Spreadsheet: 513d6152-b091-4ed2-8e32-e3be31a8a9e9
Sheet: Sheet1

ENTREZ_GENE_ID | GENE_SYMBOL | [NAME] | ALIAS_GENE_SYMBOL | [NAME] | CHROMOSOME | ENTREZ_GENE_SUMMARY | cis_trans | LNG | Myers | Schadt | Stranger
48 | ACO1 | Aconitase, Aconitase 1 variant, Aconitase 1 variant (Fragment), Aconitase 1, soluble (Aconitase 1, soluble, isoform [NAME]), Aconitase 1, soluble, isoform [NAME], [NAME] hydratase, Citrate hydro-lyase, Ferritin repressor protein, IRE-BP 1, IRP1, Iron regulatory protein 1, Iron-responsive element-binding protein 1, Iron-responsive element-binding protein 1 (IRE-BP 1) (Iron regulatory protein 1) (IRP1) (Ferritin repressor protein) ([NAME] hydratase) (EC 4.2.1.3) (Citrate hydro-lyase) (Aconitase), aconitase 1, soluble, | ACO1, ACO1; IREB1, ACO1; RP11-334P12.1-002, hCG_30165, ACO1; RP11-334P12.1-003, IREB1, IREBP, IRP1, RP11-334P12.1-002, RP11-334P12.1-003, hCG_30165, | 9p22-q32 | 9 | Aconitase 1, also known as iron regulatory element binding protein 1 (IREB1), is a cytosolic protein which binds to iron-responsive elements (IREs).  IREs are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA.  The iron-induced binding to the IRE results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degrading transferrin receptor mRNA.  Thus, IREB1 plays a central role in cellular iron homeostasis.  It was also shown to have aconitase activity, and hence grouped with the aconitase family of enzymes., | [NAME] | 1 | 0 | 1 | 0
51205 | ACP6 | Acid phosphatase 6, lysophosphatidic, Acid phosphatase-like protein 1, Lysophosphatidic acid phosphatase type 6 precursor, [NAME] acid phosphatase type 6 precursor (EC 3.1.3.2) (Acid phosphatase 6, lysophosphatidic) (Acid phosphatase-like protein 1) (PACPL1), PACPL1, | ACP6; ACPL1, LPAP; UNQ205/PRO231, ACPL1, Acp6, Lpap, PACPL1, UNQ205/PRO231, | 1q21 | 1 |  | [NAME] | 1 | 1 | 1 | 0
161823 | ADAL | Adenosine deaminase-like protein (EC 3.5.4.-), adenosine deaminase-like, | Adal, DKFZp313B2137, FLJ44620, | 15q15.3 | 15 |  | [NAME] | 1 | 0 | 1 | 0
175 | AGA | AGA, Aspartylglucosaminidase, Aspartylglucosaminidase alpha subunit, Aspartylglucosaminidase alpha subunit (Fragment), Aspartylglucosaminidase beta subunit, Aspartylglucosaminidase beta subunit (Fragment), [NAME], Aspartylglycosaminuria (Fragment), GA protein, GA protein (Fragment), [NAME], N(4)-(Beta-N-acetylglucosaminyl)-L-asparaginase precursor, N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase, | AGU, ASRG, [NAME], GA, | 4q32-q33 | 4 | Aspartylglucosaminidase is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins.  The lysosomal storage disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme., | [NAME] | 1 | 0 | 1 | 0
11216 | AKAP10 | A kinase (PRKA) anchor protein 10, A kinase anchor protein 10, mitochondrial precursor, D-AKAP-2, Dual specificity A kinase-anchoring protein 2, PRKA10, Protein kinase A-anchoring protein 10, | AKAP10, D-AKAP2, MGC9414, PRKA10, | 17p11.1 | 17 | The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the [NAME] family. The encoded protein interacts with both the type I and type II regulatory subunits of PKA; therefore, it is a dual-specific AKAP. This protein is highly enriched in mitochondria. It contains RGS (regulator of G protein signalling) domains, in addition to a PKA-RII subunit-binding domain. The mitochondrial localization and the presence of RGS domains may have important implications for the function of this protein in PKA and G protein signal transduction., | [NAME] | 1 | 0 | 0 | 1
10270 | AKAP8 | A kinase (PRKA) anchor protein 8, A-kinase anchor protein 8, A-kinase anchor protein 95 kDa, AKAP 95, Akap8 protein, Putative uncharacterized protein DKFZp586B1222, Putative uncharacterized protein DKFZp586B1222 (Fragment), | Akap8, Akap95, DKFZp586B1222, | 19p13.1 | 19 | The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the [NAME] family. The encoded protein is located in the nucleus during interphase and is distinctly redistributed during mitosis. This protein has a cell cycle-dependent interaction with the RII subunit of PKA., | [NAME] | 1 | 0 | 1 | 0
126133 | ALDH16A1 | ALDH16A1 protein, [NAME] dehydrogenase 16 family, member [NAME], [NAME] dehydrogenase family 16 member [NAME], FLJ00209 protein, FLJ00209 protein (Fragment), | FLJ00209, MGC10204, aldh16a1, | 19q13.33 | 19 |  | [NAME] | 1 | 0 | 1 | 0
267 | AMFR | AMF receptor, AMFR protein, Autocrine motility factor receptor precursor, isoform 1, Autocrine motility factor receptor precursor, isoform 1 (AMF receptor), Autocrine motility factor receptor, isoform 2, Autocrine motility factor receptor, isoform 2 (EC 6.3.2.-) (AMF receptor) (gp78) (RING finger protein 45), Gp78, RING finger protein 45, autocrine motility factor receptor, | AMFR; RNF45, RNF45, amfr, gp78, | 16q21 | 16 | Autocrine motility factor is a tumor motility-stimulating protein secreted by tumor cells. The protein encoded by this gene is a glycosylated transmembrane protein and a receptor for autocrine motility factor. The receptor, which shows some sequence similarity to tumor protein p53, is localized to the leading and trailing edges of carcinoma cells., | [NAME] | 1 | 0 | 1 | 0
282679 | AQP11 | AQP-11, Aquaporin-11, Aquaporin-11 (AQP-11), aquaporin 11, | AQP11; AQPX1; PSEC0027, [NAME], Aqp11, PSEC0027, | 11q14.1 | 11 |  | [NAME] | 1 | 0 | 0 | 1
93974 | ATPIF1 | ATP synthase inhibitor protein, ATPIF1 protein, ATPase inhibitor, mitochondrial precursor, ATPase inhibitory factor 1, ATPase inhibitory factor 1, isoform [NAME], Putative uncharacterized protein DKFZp564G0422, | ATPIF1, ATPIF1; ATPI, [NAME], DKFZp564G0422, IP, MGC1167, [NAME], RP5-1092A3.1-001, atpI, hCG_19574, |  | 1 | This gene encodes a mitochondrial ATPase inhibitor. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified., | [NAME] | 1 | 1 | 1 | 0
8705 | B3GALT4 | B3GALT4 protein, Beta-1,3-GalTase 4, Beta-1,3-galactosyltransferase 4, Beta-1,3-galactosyltransferase 4 (EC 2.4.1.62) (Beta-1,3-GalTase 4) (Beta3Gal-T4) (b3Gal-T4) (Ganglioside galactosyltransferase) (UDP- galactose:beta-N-acetyl-galactosamine-beta-1,3-galactosyltransferase) (GAL-T2) (GalT4), Beta3Gal-T4, [NAME] protein, GAL-T2, GalT4, Ganglioside galactosyltransferase, UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4, UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 (B3GALT4 protein), UDP-galactose:beta-N-acetyl-galactosamine-beta-1,3-galactosyltransferase, b3Gal-T4, | B3GALT4, B3GALT4; DAQB-314F24.4-001, XXbac-BCX165D10.7-001, [NAME], hCG_17511, B3GALT4; GALT4, DAQB-314F24.4, DAQB-314F24.4-001, DJ1033B10.3, [NAME], GalT4, [NAME], [NAME], beta3GALT4, beta3Gal-T4, hCG_17511, | 6p21.3 | 6 | This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis., | [NAME] | 1 | 0 | 1 | 0
145173 | B3GALTL | beta 1,3-galactosyltransferase-like, | B3GALTL, B3GTL, B3Glc-T, Gal-T, beta3Glc-T, | 13q12.3 | 13 |  | [NAME] | 1 | 1 | 1 | 1
613 | BCR | BCR, [NAME]-abl mRNA of acute lymphocytic leukaemia (ALL) patients, [NAME]-abl mRNA of acute lymphocytic leukaemia (ALL) patients (Fragment), Breakpoint cluster region protein, Breakpoint cluster region protein (Fragment), CDNA FLJ46653 fis, clone TRACH3005173, highly similar to Breakpoint cluster region protein, Renal carcinoma antigen NY-REN-26, breakpoint cluster region, | ALL, D22S11, D22S662, [NAME], bcr, [NAME], cml, phl, | 22q11 | 22 | A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene., | [NAME] | 1 | 0 | 1 | 0
54014 | BRWD1 | Bromodomain and WD repeat-containing protein 1, Bromodomain and WD repeat-containing protein 1 (WD repeat-containing protein 9), WD repeat protein, WD repeat protein (Fragment), WD repeat-containing protein 9, bromodomain and WD repeat domain containing 1, | BRWD1; [NAME], WDR9, Brwd1, [NAME], FLJ43918, N143, Wdr9, | 21q22.2 | 21 | This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats, and the function of this protein is not known. This gene is located within the [NAME] syndrome region-2 on chromosome 21. Alternative splicing of this gene generates 3 transcript variants diverging at the 3' ends., | [NAME] | 1 | 0 | 1 | 0
84154 | BXDC1 | Brix domain containing 1 (Brix domain containing 1, isoform [NAME]), [NAME] domain containing 1 (Fragment), [NAME] domain containing 1, isoform [NAME], [NAME] domain-containing protein 1, brix domain containing 1, | BXDC1; RP11-397G5.1-001, hCG_33893, [NAME]; RP11-397G5.1-002, BXDC1; RP11-397G5.1-003, Bxdc1, [NAME], RP11-397G5.1-001, RP11-397G5.1-002, RP11-397G5.1-003, RPF2, bA397G5.4, hCG_33893, | 6q21 | 6 |  | [NAME] | 1 | 0 | 1 | 1
55148 | C14orf130 | Uncharacterized protein C14orf130, chromosome 14 open reading frame 130, | C14orf130, FLJ10483, MGC9518, | 14q32.12 | 14 |  | [NAME] | 1 | 0 | 1 | 1
56985 | C17orf48 | Uncharacterized protein C17orf48, chromosome 17 open reading frame 48, | C17orf48, C17orf48; MDS006, Nbla03831, MDS006, NBLA03831, | 17p13.1 | 17 |  | [NAME] | 1 | 0 | 1 | 0
64149 | C17orf75 | OK/SW-CL.19, [NAME], chromosome 17 open reading frame 75, | C17orf75, NJMU-R1, OK/SW-cl.19, | 17q11.2 | 17 |  | [NAME] | 1 | 0 | 1 | 0
83636 | C19orf12 | Uncharacterized protein C19orf12, chromosome 19 open reading frame 12, | C19orf12, DKFZP762D096, MGC10922, | 19q12 | 19 |  | [NAME] | 1 | 0 | 1 | 0
79594 | C1orf166 | RING finger protein C1orf166 (Putative NF-kappa-B-activating protein 266), chromosome 1 open reading frame 166, | C1orf166, [NAME], RP11-401M16.2, | 1p36.12 | 1 |  | [NAME] | 1 | 0 | 1 | 0
170493 | C20orf22 | abhydrolase domain containing 12 | ABHD12A; BEM46L2; C20orf22; dJ965G21.2; DKFZp434P106; ABHD12 | 20p11.21 | 20 |  | [NAME] | 1 | 0 | 0 | 1
54059 | C21orf57 | Chromosome 21 open reading frame 57, Chromosome 21 open reading frame 57 (Chromosome 21 open reading frame 57, isoform CRA_b), Chromosome 21 open reading frame 57, isoform CRA_b, Putative metalloprotease C21orf57, | C21orf57, C21orf57; hCG_401258, FLJ46907, hCG_401258, | 21q22.3 | 21 |  | [NAME] | 1 | 0 | 1 | 0
57150 | C6orf162 | Uncharacterized protein C6orf162, chromosome 6 open reading frame 162, | C6orf162, [NAME]; DC18, DC18, DKFZP586E1923, dJ102H19.2, | 6q15-q16.1 | 6 |  | [NAME] | 1 | 0 | 1 | 1
55776 | C6orf64 | Uncharacterized protein C6orf64, chromosome 6 open reading frame 64, | C6orf64, DKFZp434H012, FLJ11101, | 6p21.2 | 6 |  | [NAME] | 1 | 0 | 0 | 1
54981 | C9orf95 | Chromosome 9 open reading frame 95, Chromosome 9 open reading frame 95 (Chromosome 9 open reading frame 95, isoform [NAME]), Chromosome 9 open reading frame 95, isoform [NAME], Nicotinamide riboside kinase 1, Nicotinamide riboside kinase 1 (EC 2.7.1.-), | C9orf95, C9orf95; RP11-235O14.2-001, hCG_1743460, C9orf95; RP11-235O14.2-002, FLJ20559, NRK1, [NAME]; C9orf95, RP11-235O14.2, RP11-235O14.2-001, RP11-235O14.2-002, bA235O14.2, hCG_1743460, | 9q21.13 | 9 | Nicotinamide adenine dinucleotide (NAD+) is essential for life in all organisms, both as a coenzyme for oxidoreductases and as a source of ADP-ribosyl groups used in various reactions. Nicotinic acid and nicotinamide, collectively known as niacin, are the vitamin precursors of NAD+. Nicotinamide riboside kinases, such as NRK1, function to synthesize NAD+ through nicotinamide mononucleotide using nicotinamide riboside as the precursor ([NAME] and [NAME], 2004).[supplied by OMIM], | [NAME] | 1 | 1 | 1 | 1
10645 | CAMKK2 | CAMKK beta protein, CaM-KK beta, [NAME]-kinase kinase beta, CaMKK beta, Calcium/calmodulin-dependent protein kinase kinase 2, Calcium/calmodulin-dependent protein kinase kinase beta, calcium/calmodulin-dependent protein kinase kinase 2, beta, | CAMKKB, [NAME], Camkk2, KIAA0787, MGC15254, | 12q24.2 | 12 | The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Seven transcript variants encoding six distinct isoforms have been identified for this gene. Additional splice variants have been described but their full-length nature has not been determined. The identified isoforms exhibit a distinct ability to  undergo autophosphorylation and to phosphorylate the downstream kinases., | [NAME] | 1 | 0 | 1 | 1
22900 | CARD8 | Apoptotic protein NDPP1, CARD-inhibitor of NF-kappa-B-activating ligand, Caspase recruitment domain-containing protein 8, Caspase recruitment domain-containing protein 8 (Apoptotic protein NDPP1) (DACAR) (CARD-inhibitor of NF-kappa-B-activating ligand) (CARDINAL) (Tumor up-regulated CARD-containing antagonist of CASP9) (TUCAN), DACAR, Putative uncharacterized protein DKFZp686B22249, TUCAN, Tumor up-regulated CARD-containing antagonist of CASP9, cardinal, caspase recruitment domain family, member 8, | CARD8, CARD8; KIAA0955, NDPP1, CARDINAL, DACAR, DKFZp686B22249, DKFZp779L0366, KIAA0955, MGC57162, Ndpp1, TUCAN, | 19q13.32 | 19 | Caspase recruitment domain (CARD)-containing proteins, such as CARD8, are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB; see [NAME] 164011) in the context of apoptosis or inflammation, respectively (Bouchier-Hayes et al., 2001).[supplied by OMIM], | [NAME] | 1 | 0 | 1 | 1
374969 | CCDC23 | Coiled-coil domain-containing protein 23, coiled-coil domain containing 23, | CCDC23, | 1p34.2 | 1 |  | [NAME] | 1 | 1 | 1 | 0
977 | CD151 | CD151 antigen, CD151 antigen (Platelet-endothelial tetraspan antigen 3) (PETA-3) (GP27) (Membrane glycoprotein SFA-1) (Tetraspanin-24) (Tspan-24), CD151 antigen (Raph blood group), isoform CRA_b, CD151 antigen variant, CD151 molecule (Raph blood group), CDNA FLJ26859 fis, clone PRS08290, Gp27, Membrane [NAME], PETA-3, Platelet-endothelial tetraspan antigen 3, Tetraspanin-24, Tspan-24, | CD151, CD151; TSPAN24, [NAME], PETA-3, [NAME], Tspan24, gp27, hCG_1993428, rapH, | 11p15.5 | 11 | The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate [NAME]. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene., | [NAME] | 1 | 0 | 1 | 1
966 | CD59 | 1F5 antigen, 20 kDa homologous restriction factor, CD59 antigen, complement regulatory protein, isoform CRA_b, CD59 glycoprotein precursor, CD59 glycoprotein precursor (Membrane attack complex inhibition factor) (MACIF) (MAC-inhibitory protein) (MAC-IP) (Protectin) (MEM43 antigen) (Membrane inhibitor of reactive lysis) (MIRL) (20 kDa homologous restriction factor) (HRF-20) (HRF20) (1F5 antigen), CD59 molecule, complement regulatory protein, CD59 protein, HRF-20, HRF20, MAC-IP, MAC-inhibitory protein, [NAME], MEM43 antigen, MIRL, Membrane attack complex inhibition factor, Membrane inhibitor of reactive lysis, Protectin, | 16.3A5, CD59; MIC11, MIN1, MIN2, MIN3, MSK21, Cd59, EJ16, EJ30, EL32, G344, MGC2354, MIC11, MIN2, MSK21, PROTECTIN, hCG_2033390, min1, min3, p18-20, | 11p13 | 11 |  | [NAME] | 1 | 0 | 1 | 0
55755 | CDK5RAP2 | CDK5 activator-binding protein C48, CDK5 regulatory subunit associated protein 2, CDK5 regulatory subunit-associated protein 2, Centrosome protein Cep215, Centrosome-associated protein 215, Putative uncharacterized protein DKFZp686D1070, Putative uncharacterized protein DKFZp686E2242, Putative uncharacterized protein DKFZp686E2242 (Fragment), Putative uncharacterized protein DKFZp686M1993, Putative uncharacterized protein DKFZp686M1993 (Fragment), | C48, CDK5RAP2, CDK5RAP2; RP11-412P1.1-005, Cep215, DKFZp686B1070, DKFZp686D1070, DKFZp686E2242, DKFZp686M1993, [NAME], [NAME], RP11-412P1.1, RP11-412P1.1-005, RP11-412P1.1-008, RP11-412P1.1-013, RP11-412P1.1-014, | 9q33.2 | 9 | Neuronal CDC2-like kinase, which is involved in the regulation of neuronal differentiation, is composed of a catalytic subunit, CDK5, and an activating subunit, p25NCK5A. The protein encoded by this gene binds to [NAME] and therefore may be involved in neuronal differentiation. The encoded protein may also be a substrate of neuronal CDC2-like kinase. Multiple transcript variants exist for this gene, but the full-length nature of only two has been determined., | [NAME] | 1 | 1 | 1 | 1
8760 | CDS2 | CDP-DAG synthase 2, CDP-DG synthetase 2, CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2, CDP-diacylglycerol synthase 2, CDP-diglyceride pyrophosphorylase 2, CDP-diglyceride synthetase 2, CDS 2, CTP:phosphatidate cytidylyltransferase 2, [NAME] cytidylyltransferase 2, [NAME] cytidylyltransferase 2 (EC 2.7.7.41) (CDP-diglyceride synthetase 2) (CDP-diglyceride pyrophosphorylase 2) (CDP- diacylglycerol synthase 2) (CDS 2) (CTP:phosphatidate cytidylyltransferase 2) (CDP-DAG synthase 2) (CDP-DG synthetase 2), | CDS2, FLJ38111, RP4-680N4.2, | 20p13 | 20 | Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13., | [NAME] | 1 | 0 | 1 | 0
55125 | CEP192 | Centrosomal protein of 192 kDa (Protein Cep192), KIAA1569 protein, KIAA1569 protein (Fragment), centrosomal protein 192kDa, | CEP192; KIAA1569; PP8407, Cep192, KIAA1569, | 18p11.21 | 18 |  | [NAME] | 1 | 0 | 1 | 0
27341 | CGI-96 | ribosomal RNA processing 7 homolog A (S. cerevisiae) | CGI-96; BK126B4.3; [NAME]; MGC150423; RRP7A | 22q13.2-q13.31 | 22 |  | [NAME] | 1 | 0 | 0 | 1
56548 | CHST7 | C6ST-2, Carbohydrate sulfotransferase 7, Carbohydrate sulfotransferase 7 (EC 2.8.2.17) (EC 2.8.2.-) (Chondroitin 6-sulfotransferase 2) (C6ST-2) (N-acetylglucosamine 6-O- sulfotransferase 1) (GlcNAc6ST-4) (Galactose/N-acetylglucosamine/N- acetylglucosamine 6-O-sulfotransferase 5) (GST-5), Chondroitin 6-sulfotransferase 2, GST-5, Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 5, GlcNAc6ST-4, N-acetylglucosamine 6-O-sulfotransferase 1, carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7, | C6ST-2, Chst7, RP1-71L16.8, | Xp11.23 | X | This gene belongs to the sulfotransferase gene family. Sulfotransferases generate sulfated glycosaminoglycan (GAG) moities during chondroitin sulfate biosynthesis. They create considerable structural diversity among chondroitin sulfates by transferring sulfate with remarkable specificity for the underlying oligosaccharide substrate. This gene product mainly transfers sulfate to N-acetylgalactosamine. The regulated expression of each member of this gene family may be an important determinant of sulfated GAGs expression and the associated function of chondroitin sulfates as regulators of many biologic processes. This gene is part of a gene cluster on chromosome Xp11.23., | [NAME] | 1 | 1 | 0 | 0
91612 | CHURC1 | Churchill domain containing 1, Churchill protein, | C14orf52, CHCH, CHURC1, [NAME], My015, | 14q23.3 | 14 |  | [NAME] | 1 | 0 | 1 | 0
9918 | CNAP1 | [NAME] condensin I complex, subunit D2 | CNAP1; CAP-D2; hCAP-D2; KIAA0159; NCAPD2 | 12p13.3 | 12 |  | [NAME] | 1 | 0 | 0 | 1
78989 | COLEC11 | [NAME] sub-family member 11, isoform [NAME], Putative uncharacterized protein DKFZp686N1868, collectin sub-family member 11, | CL-K1-I, CL-K1-II, CL-K1-IIa, CL-K1-IIb, COLEC11, DKFZp686N1868, [NAME], UNQ596, hCG_17278, | 2p25.3 | 2 |  | [NAME] | 1 | 0 | 1 | 0
80315 | CPEB4 | cytoplasmic polyadenylation element binding protein 4, | KIAA1673, [NAME], | 5q21 | 5 |  | [NAME] | 1 | 0 | 0 | 1
9419 | CRIPT | Cysteine-rich PDZ-binding protein, | CRIPT, HSPC139, hCG_17029, | 2p21 | 2 |  | [NAME] | 1 | 0 | 1 | 1
285440 | CYP4V2 | CYP4V2 protein, Cytochrome P450 4V2, Cytochrome P450 4V2 (EC 1.14.-.-), cytochrome P450, family 4, subfamily V, polypeptide 2, | CYP4AH1, CYP4V2, [NAME], bcd, | 4q35.2 | 4 |  | [NAME] | 1 | 0 | 1 | 0
23002 | DAAM1 | Disheveled-associated activator of morphogenesis 1, dishevelled associated activator of morphogenesis 1, | DAAM1, DAAM1; KIAA0666, FLJ41657, KIAA0666, | 14q23.1 | 14 | Functions of the cell cortex, including motility, adhesion, and cytokinesis, are mediated by the reorganization of the actin cytoskeleton and recent evidence suggests a role for the Formin homology (FH) proteins in these processes. The protein encoded by this gene contains FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. Wnt/Fz signaling activates the small GTPase Rho, a key regulator of cytoskeleton architecture, to control cell polarity and movement during development. Activation requires Dvl-Rho complex formation, an assembly mediated by this gene product, which is thought to function as a scaffolding protein. Evidence of alternative splicing has been observed for this gene but the full-length nature of these variants has not been determined., | [NAME] | 1 | 0 | 1 | 0
317781 | DDX51 | ATP-dependent RNA helicase DDX51 (EC 3.6.1.-) (DEAD box protein 51), DEAD (Asp-Glu-Ala-Asp) box polypeptide 51, | DDX51, DKFZp686N2081, MGC42193, | 12q24.33 | 12 |  | [NAME] | 1 | 0 | 0 | 1
57696 | DDX55 | ATP-dependent RNA helicase DDX55 (EC 3.6.1.-) (DEAD box protein 55), CDNA FLJ23639 fis, clone CAS11535, DEAD (Asp-Glu-Ala-Asp) box polypeptide 55, Ddx55 protein, | DDX55, DDX55; KIAA1595, FLJ16577, MGC33209, kiaa1595, | 12q24.31 | 12 | This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been confirmed., | [NAME] | 1 | 0 | 1 | 0
26063 | [NAME] | 2,4-dienoyl CoA reductase 2, peroxisomal, 2,4-dienoyl-CoA reductase 2, Peroxisomal 2,4-dienoyl-CoA reductase, Peroxisomal 2,4-dienoyl-CoA reductase (EC 1.3.1.34) (2,4-dienoyl-CoA reductase 2) (pDCR), Putative uncharacterized protein DKFZp547I137, Putative uncharacterized protein DKFZp547I137 (Fragment), pDCR, | AL023881.1, AL023881.1-008, DKFZp547I137, Decr2, Decr2; [NAME], pdcr, | 16p13.3 | 16 |  | [NAME] | 1 | 0 | 1 | 0
25895 | [NAME] | family with sequence similarity 119, member B | [NAME]; FAM119B | 12q14.1 | 12 |  | [NAME] | 1 | 0 | 0 | 1
29103 | DNAJC15 | DnaJ (Hsp40) homolog, subfamily C, member 15, [NAME] homolog subfamily C member 15 (Methylation-controlled J protein) (MCJ) (Cell growth-inhibiting gene 22 protein), | DNAJC15; DNAJD1; GIG22, HSD18, Dnajc15, Dnajd1, [NAME], MCJ, | 13q14.1 | 13 |  | [NAME] | 1 | 0 | 1 | 0
10570 | DPYSL4 | CRMP-3, [NAME] response mediator protein 3, DRP-4, Dihydropyrimidinase-related protein 4, Dihydropyrimidinase-related protein 4 (DRP-4) ([NAME] response mediator protein 3) (CRMP-3) (UNC33-like phosphoprotein 4) (ULIP4 protein), ULIP4 protein, UNC33-like phosphoprotein 4, dihydropyrimidinase-like 4, | CRMP3, DPYSL4; CRMP3, ULIP4, DRP-4, Dpysl4, RP11-140A10.4, Ulip4, | 10q26 | 10 |  | [NAME] | 1 | 0 | 0 | 1
51227 | DSCR5 | phosphatidylinositol glycan anchor biosynthesis, class P | DCRC; DSRC; DSCR5; DCRC-S; PIGP | 21q22.2 | 21 | This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] | [NAME] | 1 | 0 | 0 | 1
8892 | EIF2B2 | Full-length cDNA clone CS0DI071YM04 of Placenta of Homo sapiens, S20I15, [NAME], Translation initiation factor [NAME] subunit beta, Translation initiation factor [NAME] subunit beta (eIF-2B GDP-GTP exchange factor subunit beta) (S20I15) ([NAME]), [NAME] GDP-GTP exchange factor subunit beta, eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa, human, | EIF-2Bbeta, EIF2B, EIF2B2, EIF2B2; EIF2BB, EIF2BB, hCG_22350, | 14q24.3 | 14 | Eukaryotic initiation factor-2B (EIF2B) is a GTP exchange protein essential for protein synthesis. It consists of alpha (EIF2B1; [NAME] 606686), beta (EIF2B2), gamma (EIF2B3; [NAME] 606273), delta (EIF2B4; [NAME] 606687), and epsilon (EIF2B5; [NAME] 603945) subunits. EIF2B activates its EIF2 (see [NAME] 603907) substrate by exchanging EIF2-bound GDP for GTP.[supplied by OMIM], | [NAME] | 1 | 0 | 1 | 1
1984 | EIF5A | Eukaryotic translation initiation factor 5A-1 (eIF-5A-1) (eIF-5A1) (Eukaryotic initiation factor 5A isoform 1) (eIF-5A) (eIF-4D) (Rev- binding factor), UORF, UORF A, UORF A (UORF), eukaryotic translation initiation factor 5A, | EIF5A1, EIF5A1; EIF5A, EIF5AP1, MGC104255, MGC99547, eIF-5A, eIF5A, uORF, uORF A, | 10q23.317p13-p12 | 17 |  | [NAME] | 1 | 0 | 0 | 1
2235 | FECH | CDNA FLJ35097 fis, clone PLACE6006222, highly similar to FERROCHELATASE, Ferrochelatase, Ferrochelatase (EC 4.99.1.1), Ferrochelatase (Fragment), Ferrochelatase, mitochondrial precursor, Ferrochelatase, mitochondrial precursor (EC 4.99.1.1) (Protoheme ferro-lyase) (Heme synthetase), Heme synthetase, [NAME] ferro-lyase, ferrochelatase (protoporphyria), | DKFZp686P18130, EPP, FCE, FECH, | 18q21.3 | 18 | Ferrochelatase is localized to the mitochondrion where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Defects in ferrochelatase are associated with protoporphyria. Two transcript variants encoding different isoforms have been found for this gene., | [NAME] | 1 | 0 | 1 | 1
283234 | [NAME] | coiled-coil domain containing 88B | BRLZ; HkRP3; CCDC88; FLJ00354; [NAME]; DKFZp434G0920; CCDC88B | 11q12.3 | 11 |  | [NAME] | 1 | 0 | 0 | 1
79672 | FN3KRP | FN3KRP protein, Fructosamine-3-kinase-related protein, Ketosamine-3-kinase, Ketosamine-3-kinase (EC 2.7.1.-) (Fructosamine-3-kinase-related protein), | FLJ12171, Fn3krp, | 17q25.3 | 17 |  | [NAME] | 1 | 1 | 0 | 1
117246 | FTSJ3 | CDNA FLJ14557 fis, clone NT2RM2001896, weakly similar to CELL DIVISION PROTEIN FTSJ, FtsJ homolog 3 (E. coli), Putative rRNA methyltransferase 3, Putative rRNA methyltransferase 3 (EC 2.1.1.-) (rRNA (uridine-2'-O-)- methyltransferase 3), rRNA (uridine-2'-O-)-methyltransferase 3, | EPCS3, [NAME], [NAME], [NAME]; SB92, SB92, | 17q23 | 17 | Although the function of this gene is not known, the existence of this gene is supported by mRNA and EST data. A possible function of the encoded protein can be inferred from amino acid sequence similarity to the E.coli FtsJ protein and to a mouse protein possibly involved in embryogenesis., | [NAME] | 1 | 0 | 1 | 1
10457 | GPNMB | GPNMB protein, [NAME] protein ([NAME] ([NAME]) nmb, isoform [NAME]) ([NAME] ([NAME]) nmb) (Putative uncharacterized protein [NAME]), [NAME] ([NAME]) nmb, isoform [NAME], [NAME] nmb-like protein, Putative uncharacterized protein GPNMB, [NAME] glycoprotein HGFIN, [NAME] glycoprotein NMB precursor, [NAME] glycoprotein NMB precursor ([NAME] glycoprotein HGFIN), glycoprotein (transmembrane) nmb, | GPNMB, GPNMB; HGFIN, NMB; UNQ1725/PRO9925, [NAME]; hCG_37976, HGFIN, NMB, UNQ1725/PRO9925, hCG_37976, | 7p15 | 7 | The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. [NAME] shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. [NAME] may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene., | [NAME] | 1 | 0 | 0 | 1
2944 | GSTM1 | GST class-mu 1, GSTM1 protein, [NAME] protein (Fragment), GSTM1-1, GSTM1a-1a, GSTM1b-1b, GTH4, [NAME] M1 (Glutathione S-transferase M1 transcript variant 2) (EC 2.5.1.18), [NAME] M1 transcript variant 2, Glutathione S-transferase Mu 1, Glutathione S-transferase Mu 1 (EC 2.5.1.18) (GSTM1-1) (GST class-mu 1) (GSTM1a-1a) (GSTM1b-1b) (HB subunit 4) (GTH4), HB subunit 4, MU class glutathione S-transferase, MU class glutathione S-transferase (Fragment), glutathione S-transferase M1, | GST1, GSTM1-1, GSTM1; GST1, GSTM1a-1a, GSTM1b-1b, GTH4, [NAME], H-B, [NAME], MU-1, Mu, gstm1, | 1p13.3 | 1 | Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, [NAME], omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene., | [NAME] | 1 | 0 | 1 | 1
2947 | GSTM3 | Brain, GST class-mu 3, GSTM3 protein, GSTM3 protein (Glutathione S-transferase M3) (Brain), [NAME], Glutathione S-transferase M3, Glutathione S-transferase M3 variant, [NAME] Mu 3, Glutathione S-transferase Mu 3 (EC 2.5.1.18) (GSTM3-3) (GST class-mu 3) (hGSTM3-3), glutathione S-transferase M3 (brain), hGSTM3-3, | [NAME], GSTM3-3, [NAME]; [NAME], [NAME]; RP4-735C1.2-001, hCG_40244, GTM3, [NAME], [NAME], MGC3704, RP4-735C1.2-001, gstB, hCG_40244, | 1p13.3 | 1 | Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, [NAME], omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Mutations of this class mu gene have been linked with a slight increase in a number of cancers, likely due to exposure with environmental toxins., | [NAME] | 1 | 0 | 1 | 1
2949 | GSTM5 | CDNA FLJ45317 fis, clone BRHIP3005673, highly similar to [NAME] Mu 5, GST class-mu 5, GSTM5-5, [NAME], Glutathione S-transferase M5 (Glutathione S-transferase M5, isoform [NAME]), [NAME] (Glutathione S-transferase M5, isoform [NAME]), [NAME], isoform [NAME], [NAME], isoform [NAME], Glutathione S-transferase Mu 5, [NAME] Mu 5 (EC 2.5.1.18) (GSTM5-5) (GST class-mu 5), | GSTM5-5, GSTM5; RP4-735C1.1-001, hCG_40245, GSTM5; RP4-735C1.1-002, hCG_40245, GSTM5; RP4-735C1.1-004, GTM5, Gstm5, RP4-735C1.1-001, RP4-735C1.1-002, RP4-735C1.1-004, hCG_40245, | 1p13.3 | 1 | Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, [NAME], omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds., | [NAME] | 1 | 0 | 1 | 0
119391 | GSTO2 | GSTO-2, Glutathione transferase omega-2, [NAME] transferase omega-2 (EC 2.5.1.18) (GSTO-2), glutathione S-transferase omega 2, | GSTO2, RP11-127L20.2, RP11-127L20.2-002, bA127L20.1, | 10q25.1 | 10 |  | [NAME] | 1 | 0 | 1 | 0
60558 | GUF1 | GTP-binding protein GUF1 homolog, [NAME] homolog (S. cerevisiae), | FLJ13220, GUF1, | 4p13 | 4 |  | [NAME] | 1 | 0 | 1 | 0
79618 | HMBOX1 | Homeobox-containing protein 1, homeobox containing 1, | FLJ21616, HMBOX1, HNF1LA, PBHNF, | 8p21.1 | 8 |  | [NAME] | 1 | 1 | 1 | 0
57407 | HSCARG | NmrA-like family domain containing 1 | HSCARG; SDR48A1; FLJ25918; NMRAL1 | 16p13.3 | 16 |  | [NAME] | 1 | 0 | 0 | 1
51144 | HSD17B12 | HSD17B12 protein, HSD17B12 protein (Hydroxysteroid (17-beta) dehydrogenase 12, isoform [NAME]), Hydroxysteroid (17-beta) dehydrogenase 12, isoform [NAME], hydroxysteroid (17-beta) dehydrogenase 12, | HSD17B12; hCG_16453, Hsd17b12, hCG_16453, [NAME], | 11p11.2 | 11 | The enzyme 17-beta hydroxysteroid dehydrogenase-12 (HSD17B12) uses NADPH to reduce 3-ketoacyl-CoA to 3-hydroxyacyl-CoA during the second step of fatty acid elongation.[supplied by OMIM], | [NAME] | 1 | 0 | 0 | 1
8372 | HYAL3 | Hyal-1, Hyaluronidase-1 precursor, Hyaluronidase-1 precursor (EC 3.2.1.35) (Hyal-1) (Hyaluronoglucosaminidase-1) (LUCA-1), Hyaluronidase-3 precursor (EC 3.2.1.35) (Hyal-3) (Hyaluronoglucosaminidase-3) (LUCA-3), Hyaluronoglucosaminidase-1, LUCA-1, hyaluronoglucosaminidase 1, hyaluronoglucosaminidase 3, | HYAL-1, HYAL1, HYAL1; LUCA1, [NAME], [NAME]; [NAME], LUCA-3, LUCA1, LUCA14, [NAME], MGC45987, Minna14, Nat6, | 3p21.3 3p21.3-p21.2 | 3 | This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. [NAME] is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene., This gene encodes a protein which is similar in structure to hyaluronidases. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. [NAME] is thought to be involved in cell proliferation, migration and differentiation. However, this protein has not yet been shown to have hyaluronidase activity. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression., | [NAME] | 1 | 0 | 1 | 0
55540 | IL17RB | Cytokine receptor CRL4, IL-17 receptor B, IL-17 receptor homolog 1, IL-17B receptor, IL-17RB, IL-17Rh1, IL17Rh1, Interleukin-17 receptor B precursor, Interleukin-17 receptor B precursor (IL-17 receptor B) (IL-17RB) (Interleukin-17B receptor) (IL-17B receptor) (IL-17 receptor homolog 1) (IL-17Rh1) (IL17Rh1) (Cytokine receptor CRL4), Interleukin-17B receptor, interleukin 17 receptor B, | CRL4, Evi27, IL17BR, IL17RB, IL17RB; EVI27, IL17BR; UNQ2501/PRO19612, IL17RH1, MGC5245, UNQ2501/PRO19612, | 3p21.1 | 3 | The protein encoded by this gene is a cytokine receptor. This receptor specifically binds to IL17B and IL17E, but does not bind to IL17 and IL17C. This receptor has been shown to mediate the activation of NF-kappaB and the production of IL8 induced by IL17E. The expression of the rat counterpart of this gene was found to be significantly up-regulated during intestinal inflammation, which suggested the immunoregulatory activity of this receptor., | [NAME] | 1 | 0 | 1 | 0
54758 | KLHDC4 | CDNA FLJ13924 fis, clone Y79AA1000540, weakly similar to CELL POLARITY PROTEIN TEA1, FLJ00104 protein, FLJ00104 protein (Fragment), HCG1980662, [NAME] domain containing 4, isoform [NAME], Putative uncharacterized protein, Putative uncharacterized protein DKFZp434G0522, Putative uncharacterized protein DKFZp434G0522 (Kelch domain containing 4, isoform [NAME]), kelch domain containing 4, | DKFZp434G0522, DKFZp434G0522; KLHDC4; hCG_20391, FLJ00104, KLHDC4, hCG_1980662, [NAME], | 16q24.3 | 16 |  | [NAME] | 1 | 0 | 1 | 0
11019 | LIAS | LS, [NAME], Lipoate synthase, Lipoic acid synthase, Lipoic acid synthetase, Lipoyl synthase, mitochondrial precursor, | HUSSY-01, LIP1, Las, MGC23245, lias, | 4p14 | 4 | The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified., | [NAME] | 1 | 0 | 1 | 0
3980 | LIG3 | CDNA FLJ43865 fis, clone TESTI4007810, highly similar to DNA ligase III, DNA ligase, DNA ligase 3, DNA ligase III, [NAME] protein, Polydeoxyribonucleotide synthase [ATP] 3, ligase III, DNA, ATP-dependent, | hCG_27675, lig3, | 17q11.2-q12 | 17 | This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized., | [NAME] | 1 | 0 | 1 | 0
400566 | LOC400566 | CDNA FLJ46819 fis, clone TSTOM2000235, LOC400566 protein, hypothetical gene supported by AK128660, | LOC400566, | 17p13.3 | 17 |  | [NAME] | 1 | 0 | 0 | 1
79442 | LRRC2 | Leucine rich repeat containing 2, Leucine rich repeat containing 2 variant, Leucine-rich repeat-containing protein 2, | LRRC2, | 3p21.31 | 3 |  | [NAME] | 1 | 0 | 1 | 0
9884 | LRRC37A | Leucine-rich repeat-containing protein 37A, Putative uncharacterized protein DKFZp686N1231, leucine rich repeat containing 37A, | DKFZp686N1231, [NAME], Lrrc37a, | 17q21.31 | 17 |  | [NAME] | 1 | 0 | 1 | 0
10746 | MAP3K2 | CDNA FLJ14439 fis, clone HEMBB1000781, highly similar to Homo sapiens mitogen-activated protein kinase kinase kinase MEKK2 mRNA, MAP3K2 protein, MAPK/ERK kinase kinase 2, [NAME] kinase 2, MEKK 2, Mitogen-activated protein kinase kinase kinase 2, Mitogen-activated protein kinase kinase kinase 2 (EC 2.7.11.25) (MAPK/ERK kinase kinase 2) (MEK kinase 2) (MEKK 2), | MAP3K2; [NAME], MEKK2, [NAME], Map3k2, Mekk2, Mekk2b, | 2q14.3 | 2 | The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase preferentially activates other kinases involved in the MAP kinase signaling pathway. This kinase has been shown to directly phosphorylate and activate [NAME] B kinases, and thus plays a role in NF-kappa B signaling pathway. This kinase has also been found to bind and activate protein kinase C-related kinase 2, which suggests its involvement in a regulated signaling process., | [NAME] | 1 | 0 | 1 | 0
4137 | MAPT | CDNA FLJ31424 fis, clone NT2NE2000392, [NAME]-associated protein tau, [NAME]-associated protein tau (Neurofibrillary tangle protein) (Paired helical filament-tau) (PHF-tau), Neurofibrillary tangle protein, PHF-tau, Paired helical filament-tau, | DDPAC, [NAME], FTDP-17, MAPT, MAPT; MAPTL, MTBT1, TAU, MAPTL, MGC138549, MSTD, MTBT1, MTBT2, PPND, tau, | 17q21.1 | 17 | This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, [NAME]'s disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy., | [NAME] | 1 | 1 | 0 | 0
84245 | MGC3207 | methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) | MTNA; MGC3207; Ypr118w; MRI1 | 19p13.13 | 19 |  | [NAME] | 1 | 0 | 0 | 1
4255 | MGMT | 6-O-methylguanine-DNA methyltransferase, MGMT, Methylated-DNA--protein-cysteine methyltransferase, Methylated-DNA--protein-cysteine methyltransferase (EC 2.1.1.63) (6-O- methylguanine-DNA methyltransferase) (MGMT) (O-6-methylguanine-DNA- alkyltransferase), [NAME]-methylguanine-DNA methyltransferase, [NAME]-methylguanine-DNA methyltransferase (O-6-methylguanine-DNA methyltransferase, isoform [NAME]), [NAME]-methylguanine-DNA methyltransferase, isoform [NAME], O-6-methylguanine-DNA-alkyltransferase, O6-methylguanine-DNA methyltransferase, O6-methylguanine-DNA methyltransferase (Fragment), | MGMT, MGMT; RP11-109A6.1-001, hCG_39601, RP11-109A6.1, RP11-109A6.1-001, hCG_39601, | 10q26 | 10 |  | [NAME] | 1 | 0 | 1 | 1
84545 | MRPL43 | 39S ribosomal protein [NAME], mitochondrial precursor, 39S ribosomal protein [NAME], mitochondrial precursor (L43mt) (MRP-L43) (Mitochondrial ribosomal protein bMRP36a), L43mt, MRP-L43, MRPL43 protein, Mitochondrial ribosomal protein [NAME], isoform [NAME], Mitochondrial ribosomal protein [NAME], isoform CRA_b, Mitochondrial ribosomal protein bMRP36a, mitochondrial ribosomal protein [NAME], | [NAME], [NAME], MRPL43, RP11-108L7.13, RP11-108L7.13-001, RP11-108L7.13-004, RP11-108L7.13-006, RP11-108L7.13-007, RP11-108L7.13-008, RP11-108L7.13-009, bMRP36a, hCG_24670, | 10q24.31 | 10 | Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms., | [NAME] | 1 | 0 | 1 | 1
4552 | MTRR | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase, MSR, [NAME] synthase reductase, mitochondrial precursor, | MGC129643, MTRR, msr, | 5p15.3-p15.2 | 5 | [NAME] is an essential amino acid required for protein synthesis and one carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Patients of the cbl-E complementation group of disorders of folate/cobalamin metabolism are defective in reductive activation of methionine synthase. This gene produces two transcripts., | [NAME] | 1 | 0 | 1 | 1
9172 | MYOM2 | 165 [NAME]-associated protein, 165 [NAME]-associated protein, M-protein, Myomesin-2, Myomesin-2 (M-protein) (165 [NAME]-associated protein) (165 [NAME]-associated protein), [NAME] (M-protein) 2, 165kDa, | MYOM2, TTNAP, | 8p23.3 | 8 | The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical., | [NAME] | 1 | 0 | 1 | 1
93100 | NAPRT1 | NAPRT1 protein, Nicotinate phosphoribosyltransferase domain containing 1, Nicotinate phosphoribosyltransferase domain-containing protein 1, Nicotinate phosphoribosyltransferase domain-containing protein 1 (Nicotinate phosphoribosyltransferase-like protein), Nicotinate phosphoribosyltransferase-like protein, PP3856, | Naprt1, PP3856, | 8q24.3 | 8 |  | [NAME] | 1 | 1 | 0 | 0
9975 | NR1D2 | EAR-1R, NR1D2 protein, Nuclear receptor subfamily 1 group D member 2, Nuclear receptor subfamily 1, group D, member 2, Orphan nuclear hormone receptor BD73, Orphan nuclear receptor NR1D2 variant, Rev-erb-beta, | BD73, EAR-1r, [NAME], Hs.37288, NR1D2, RVR, | 3p24.2 | 3 |  | [NAME] | 1 | 0 | 0 | 1
55968 | NSFL1C | NSFL1 (P97) cofactor, NSFL1 (P97) cofactor (P47), [NAME] (P97) cofactor (P47), isoform CRA_d, NSFL1 cofactor p47, NSFL1 cofactor p47 (p97 cofactor p47), P47, P47 protein isoform a variant, p97 cofactor p47, | MGC3347, NSFL1C, RP4-776F14.2, RP4-776F14.2-004, RP4-776F14.2-010, [NAME], UBXD10, [NAME], [NAME], p47, | 20p13 | 20 | N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Multiple transcript variants encoding several different isoforms have been found for this gene., | [NAME] | 1 | 0 | 1 | 0
54888 | NSUN2 | NOL1/NOP2/Sun domain family, member 2, | FLJ20303, [NAME], SAKI, TRM4, [NAME], | 5p15.31 | 5 |  | [NAME] | 1 | 0 | 1 | 0
256281 | NUDT14 | Nucleoside diphosphate-linked moiety X motif 14, Nudix motif 14, UDPG pyrophosphatase, UGPPase, Uridine diphosphate glucose pyrophosphatase, [NAME] diphosphate glucose pyrophosphatase (EC 3.6.1.45) (UDPG pyrophosphatase) (UGPPase) (Nucleoside diphosphate-linked moiety X motif 14) (Nudix motif 14), nudix (nucleoside diphosphate linked moiety X)-type motif 14, | NUDT14, NUDT14; UGPP, UGPP, | 14q32.33 | 14 | UDP-glucose (UDPG) acts as the sugar donor in numerous glycosylation reactions, including those involved in the production of glycogen. NUDT14 is a UDPG pyrophosphatase (EC 3.6.1.45) that hydrolyzes UDPG to produce glucose 1-phosphate and UMP (Yagi et al., 2003).[supplied by OMIM], | [NAME] | 1 | 0 | 1 | 0
318 | NUDT2 | Ap4A hydrolase, Ap4Aase, Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical], Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] (EC 3.6.1.17) (Diadenosine 5',5'''-P1,P4-tetraphosphate asymmetrical hydrolase) (Diadenosine tetraphosphatase) (Ap4A hydrolase) (Ap4Aase) (Nucleoside diphosphate-linked moiety X motif 2) (Nudix motif 2), Diadenosine 5',5'''-P1,P4-tetraphosphate asymmetrical hydrolase, Diadenosine tetraphosphatase, Nucleoside diphosphate-linked moiety X motif 2, Nudix (Nucleoside diphosphate linked moiety X)-type motif 2 (Nudix (Nucleoside diphosphate linked moiety X)-type motif 2, isoform [NAME]), [NAME] (Nucleoside diphosphate linked moiety X)-type motif 2, isoform [NAME], Nudix motif 2, nudix (nucleoside diphosphate linked moiety X)-type motif 2, | APAH1, MGC10404, [NAME], NUDT2; APAH1, NUDT2; RP11-573M23.2-004, hCG_19439, RP11-573M23.2-004, hCG_19439, | 9p13 | 9 | This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and three transcript variants, all encoding the same protein, have been identified., | [NAME] | 1 | 0 | 1 | 1
10762 | NUP50 | DC41, HCG1989366, isoform [NAME], [NAME], [NAME] (Fragment), NUP50 protein, Nuclear pore-associated protein 60 kDa-like, Nucleoporin 50 kDa, Nucleoporin 50 kDa (Nuclear pore-associated protein 60 kDa-like), Nucleoporin 50kDa, | [NAME], NPAP60L, NUP50, NUP50; NPAP60L; PRO1146, Npap60, Pro1146, hCG_1989366, | 22q13.31 | 22 | The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene., | [NAME] | 1 | 0 | 1 | 1
5134 | PDCD2 | PDCD2 protein, Programmed cell death 2 isoform 1, Programmed cell death 2 isoform 2, Programmed cell death protein 2, Zinc finger MYND domain-containing protein 7, Zinc finger protein Rp-8, programmed cell death 2, | MGC12347, [NAME], RP1-191N21.2-002, Rp8, ZMYND7, | 6q27 | 6 | This gene encodes a nuclear protein expressed in a variety of tissues. The rat homolog, Rp8, is transiently expressed in immature thymocytes and is thought to be involved in programmed cell death. Expression of the human gene has been shown to be repressed by BCL6, a transcriptional repressor required for lymph node germinal center development, suggesting that BCL6 regulates apoptosis by its effects on PDCD2. This gene is closely linked on chromosome 6 to the gene for TBP, the TATA binding protein. Two transcripts encoding different proteins have been identified., | [NAME] | 1 | 0 | 1 | 0
5190 | PEX6 | PAF-2, [NAME], [NAME] (Peroxisomal biogenesis factor 6, isoform [NAME]), [NAME] (Peroxisomal biogenesis factor 6, isoform CRA_d), Peroxin-6, Peroxisomal biogenesis factor 6, Peroxisomal biogenesis factor 6 (Peroxisomal biogenesis factor 6, isoform [NAME]), Peroxisomal biogenesis factor 6 variant, Peroxisomal biogenesis factor 6, isoform [NAME], Peroxisomal biogenesis factor 6, isoform [NAME], Peroxisomal biogenesis factor 6, isoform CRA_d, Peroxisomal-type ATPase 1, Peroxisome assembly factor 2, Peroxisome assembly factor 2 (PAF-2) (Peroxisomal-type ATPase 1) (Peroxin-6) (Peroxisomal biogenesis factor 6), | PAF-2, PEX6, PEX6; PXAAA1, PEX6; RP1-125M3.3-001, hCG_17647, PEX6; hCG_17647, PXAAA1, Paf2, RP1-125M3.3-001, hCG_17647, | 6p21.1 | 6 |  | [NAME] | 1 | 0 | 1 | 1
10443 | PFAAP5 | NEDD4 binding protein 2-like 2 | [NAME]; PFAAP5; 92M18.3; FLJ36195; [NAME]; FLJ43077; N4BP2L2 | 13q13.1 | 13 |  | [NAME] | 1 | 0 | 0 | 1
84680 | PHACS | 1-aminocyclopropane-1-carboxylate synthase, 1-aminocyclopropane-1-carboxylate synthase, isoform [NAME], CDNA FLJ33087 fis, clone TRACH2000472, weakly similar to 1-AMINOCYCLOPROPANE-1-CARBOXYLATE SYNTHASE 2, Putative 1-aminocyclopropane-1-carboxylate synthase, | Phacs, acs, hCG_1785059, | 11p11 | 11 |  | [NAME] | 1 | 0 | 0 | 1
23556 | PIGN | phosphatidylinositol glycan anchor biosynthesis, class N, | [NAME], MDC4, MGC26427, PIG-N, PIGN, | 18q21.33 | 18 | This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported., | [NAME] | 1 | 1 | 1 | 1
10531 | PITRM1 | Pitrilysin metallopeptidase 1, Presequence protease, mitochondrial precursor (EC 3.4.24.-) (hPreP) (Pitrilysin metalloproteinase 1) (Metalloprotease 1) (hMP1), Putative uncharacterized protein DKFZp686F08225, Putative uncharacterized protein DKFZp686F08225 (Fragment), | DKFZp686F08225, KIAA1104, MGC138192, MGC141929, MP1, PITRM1; KIAA1104, MP1, RP11-298E9.1, hmp1, [NAME], | 10p15.2 | 10 |  | [NAME] | 1 | 0 | 1 | 0
5441 | POLR2L | DNA-directed [NAME] polymerases I, II, and III subunit RPABC5 (RNA polymerases I, II, and III subunit ABC5) (DNA-directed RNA polymerase III subunit L) (RPB10) (DNA-directed RNA polymerase II 7.6 kDa polypeptide) (RPB7.6), POLR2L protein, polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa, | Polr2l, RBP10, RPABC5, RPB10, RPB10beta, RPB7.6, hRPB7.6, hsRPB10b, | 11p15 | 11 | This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases., | [NAME] | 1 | 0 | 1 | 0
5468 | PPARG | CREB3L2-PPARgamma, Nuclear receptor subfamily 1 group C member 3, PPAR-gamma, Peroxisome proliferative activated receptor gamma, Peroxisome proliferative activated receptor gamma (Fragment), Peroxisome proliferative activated receptor gamma isoform 2 variant, Peroxisome proliferative activated receptor gamma isoform 2 variant (Fragment), Peroxisome proliferator activated-receptor gamma, Peroxisome proliferator activated-receptor gamma (Fragment), Peroxisome proliferator-activated receptor, Peroxisome proliferator-activated receptor gamma (PPAR-gamma) (Nuclear receptor subfamily 1 group C member 3), Peroxisome proliferator-activated receptor gamma 1, Peroxisome proliferator-activated receptor gamma 1 (Peroxisome proliferator-activated receptor) (Fragment), peroxisome proliferator-activated receptor gamma, | NR1C3, PPARG, PPARG1, PPARG; NR1C3, PPARg2, ppar gamma2, | 3p25 | 3 | This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of [NAME] differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described., | [NAME] | 1 | 0 | 0 | 1
53938 | PPIL3 | CyPJ, [NAME], Cyclophilin-like protein PPIL3, PPIase, Peptidyl-prolyl cis-trans isomerase-like 3, Peptidyl-prolyl cis-trans isomerase-like 3 (EC 5.2.1.8) (PPIase) (Rotamase) (Cyclophilin-like protein PPIL3) ([NAME]) (CyPJ), Peptidylprolyl isomerase (Cyclophilin)-like 3, isoform [NAME], Peptidylprolyl isomerase-like 3 isoform B, Peptidylprolyl isomerase-like protein 3 isoform PPIL3d, Rotamase, peptidylprolyl isomerase (cyclophilin)-like 3, | CYPJ, Ppil3, hCG_16559, | 2q33.1 | 2 | This gene encodes a member of the [NAME] family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events. Transcript variants derived from alternative splicing and/or alternative polyadenylation exist; some of these variants encode different isoforms., | [NAME] | 1 | 0 | 1 | 1
5709 | [NAME] | 26S proteasome non-ATPase regulatory subunit 3 (26S proteasome regulatory subunit S3) (Proteasome subunit p58), CDNA FLJ31237 fis, clone KIDNE2004846, highly similar to 26S PROTEASOME REGULATORY SUBUNIT S3, CDNA FLJ36887 fis, clone BNGH42005504, highly similar to 26S PROTEASOME REGULATORY SUBUNIT S3, Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6, Hepatocellular carcinoma-associated antigen 67, PH and SEC7 domain-containing protein 3, [NAME] protein, Pleckstrin homology and SEC7 domain-containing protein 3, Proteasome subunit p58, proteasome (prosome, macropain) 26S subunit, non-ATPase, 3, | EFA6R, HCA67, [NAME], [NAME], Psd3, Rpn3, S3, p58, | 17q12-q21.1 | 17 | The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid., | [NAME] | 1 | 0 | 1 | 1
53917 | RAB24 | CDNA FLJ11699 fis, clone HEMBA1005047, highly similar to RAS-RELATED PROTEIN RAB-24, CDNA FLJ11699 fis, clone HEMBA1005047, highly similar to RAS-RELATED PROTEIN RAB-24 (RAB24, member RAS oncogene family, isoform [NAME]), PP4748, PP4748 (RAB24, member RAS oncogene family, isoform CRA_d), RAB24, member RAS oncogene family, RAB24, member RAS oncogene family, isoform [NAME], RAB24, member RAS oncogene family, isoform CRA_d, [NAME]-related protein Rab-24, | RAB24; hCG_2039395, hCG_2039395, rab24, | 5q35.3 | 5 |  | [NAME] | 1 | 0 | 0 | 1
117177 | [NAME] | RAB3A interacting protein (rabin3), RAB3A-interacting protein, RAB3A-interacting protein (Rabin-3) (SSX2-interacting protein), Rabin-3, SSX2-interacting protein, | [NAME], [NAME], [NAME], [NAME], RABIN3, | 12q14.3 | 12 |  | [NAME] | 1 | 0 | 1 | 0
9135 | RABEP1 | Rab GTPase-binding effector protein 1, Rab GTPase-binding effector protein 1 (Rabaptin-5) (Rabaptin-5alpha) (Rabaptin-4) (Renal carcinoma antigen NY-REN-17), Rabaptin, RAB GTPase binding effector protein 1, Rabaptin-4, Rabaptin-5, Rabaptin-5alpha, Renal carcinoma antigen NY-REN-17, | RABEP1, RABEP1; RABPT5, RABPT5A, Rab5ep, Rabpt5, Rabpt5a, | 17p13.2 | 17 |  | [NAME] | 1 | 0 | 1 | 1
26001 | RNF167 | E3 ubiquitin-protein ligase RNF167 precursor (EC 6.3.2.-) (RING finger protein 167) (RING105), Putative uncharacterized protein, ring finger protein 167, | 5730408C10Rik, DKFZP566H073, [NAME], RNF167, RNF167; LP2254, | 17p13.2 | 17 |  | [NAME] | 1 | 1 | 1 | 0
140691 | [NAME] | tripartite motif-containing 69 | Trif; HSD34; [NAME]; TRIM69 | 15q21.1 | 15 | This gene encodes a member of the RING-B-box-coiled-coil (RBCC) family and encodes a protein with an N-terminal RING finger motif, a PRY domain and a C-terminal SPRY domain. The mouse ortholog of this gene is specifically expressed in germ cells at the round spermatid stages during spermatogenesis and, when overexpressed, induces apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] | [NAME] | 1 | 0 | 0 | 1
6228 | RPS23 | 40S ribosomal protein S23, Ribosomal protein S23, | FLJ35016, Rps23, | 5q14.2 | 5 | Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12P family of ribosomal proteins. It is located in the cytoplasm. The protein shares significant amino acid similarity with S. cerevisiae ribosomal protein S28. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome., | [NAME] | 1 | 0 | 1 | 0
84881 | RPUSD4 | RNA pseudouridylate synthase domain containing 4, RNA pseudouridylate synthase domain-containing protein 4, | FLJ14494, Rpusd4, | 11q24.2 | 11 |  | [NAME] | 1 | 0 | 1 | 0
51435 | SCARA3 | Scavenger receptor class A member 3 (Cellular stress response gene protein), scavenger receptor class A, member 3, | APC7, CSR, CSR1, [NAME], MSRL1, SCARA3, SCARA3; CSR, | 8p21 | 8 | This gene encodes a macrophage scavenger receptor-like protein. This protein has been shown to deplete reactive oxygen species, and thus play an important role in protecting cells from oxidative stress. The expression of this gene is induced by oxidative stress. Alternatively spliced transcript variants encoding distinct isoforms have been described., | [NAME] | 1 | 0 | 1 | 0
6441 | SFTPD | Lung surfactant protein D, PSP-D, [NAME] surfactant-associated protein D precursor, [NAME] surfactant-associated protein D precursor (SP-D) (PSP-D) (Lung surfactant protein D), SP-D, Surfactant, pulmonary-associated protein D (Fragment), surfactant, pulmonary-associated protein D, | COLEC7, PSP-D, RP11-479O17.1-002, [NAME], SFTPD, SFTPD; PSPD, [NAME], SFTPD; RP11-479O17.1-002, SP-D, pspD, | 10q22.2-q23.1 | 10 |  | [NAME] | 1 | 1 | 1 | 0
6470 | SHMT1 | 14 [NAME] protein, Cytosolic serine hydroxymethyltransferase (EC 2.1.2.1) (Fragment), Glycine hydroxymethyltransferase, SHMT, Serine hydroxymethyltransferase, [NAME] hydroxymethyltransferase (EC 2.1.2.1) (Fragment), [NAME], cytosolic, [NAME] hydroxymethyltransferase, cytosolic (EC 2.1.2.1) (Serine methylase) (Glycine hydroxymethyltransferase) (SHMT), Serine methylase, cytosolic serine hydroxymethyltransferase, serine hydroxymethyltransferase 1 (soluble), | CSHMT, MGC15229, MGC24556, Shmt1, hCG_1985219, shmt, | 17p11.2 | 17 | This gene encodes the cellular form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing of this gene results in 2 transcript variants encoding 2 different isoforms. Additional transcript variants have been described, but their biological validity has not been determined., | [NAME] | 1 | 0 | 1 | 1
10572 | SIVA | SIVA1, apoptosis-inducing factor | SIVA; CD27BP; Siva-1; Siva-2; SIVA1 | 14q32.33 | 14 | This gene encodes a protein with an important role in the apoptotic (programmed cell death) pathway induced by the CD27 antigen, a member of the tumor necrosis factor receptor (TFNR) superfamily. The CD27 antigen cytoplasmic tail binds to the N-terminus of this protein. Two alternatively spliced transcript variants encoding distinct proteins have been described. [provided by RefSeq] | [NAME] | 1 | 0 | 0 | 1
220963 | SLC16A9 | Monocarboxylate transporter 9 (MCT 9) (Solute carrier family 16 member 9), solute carrier family 16, member 9 (monocarboxylic acid transporter 9), | C10orf36, FLJ43803, MCT9, SLC16A9, SLC16A9; C10orf36, MCT9, | 10q21.1 | 10 |  | [NAME] | 1 | 0 | 0 | 1
115286 | SLC25A26 | Putative uncharacterized protein DKFZp434E079, S-adenosylmethionine carrier protein, SLC25A26 protein, Solute carrier family 25 member 26, Solute carrier family 25, member 26, Solute carrier family 25, member 26, isoform [NAME], | DKFZp434E079, SAMC, SLC25A26, hCG_17883, | 3p14.1 | 3 |  | [NAME] | 1 | 0 | 1 | 0
29988 | SLC2A8 | GLUT-8, [NAME] transporter type 8, [NAME] transporter type X1, Putative uncharacterized protein, Putative uncharacterized protein (Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_d), Solute carrier family 2, (Facilitated glucose transporter) member 8 (Fragment), Solute carrier family 2, (Facilitated glucose transporter) member 8 (Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform [NAME]), Solute carrier family 2, (Facilitated glucose transporter) member 8 (Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform [NAME]), Solute carrier family 2, (Facilitated glucose transporter) member 8 variant, Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform [NAME], Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_b, Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_d, Solute carrier family 2, facilitated glucose transporter member 8, Solute carrier family 2, facilitated glucose transporter member 8 (Glucose transporter type 8) (GLUT-8) ([NAME] transporter type X1), solute carrier family 2, (facilitated glucose transporter) member 8, | [NAME], [NAME], RP11-356B19.7-005, RP11-356B19.7-006, RP11-356B19.7-008, RP11-356B19.7-011, RP11-356B19.7-012, RP11-356B19.7-014, RP11-356B19.7-015, SLC2A8; RP11-356B19.7-005, hCG_28276, SLC2A8; RP11-356B19.7-006, hCG_28276, SLC2A8; RP11-356B19.7-008, SLC2A8; RP11-356B19.7-011, SLC2A8; RP11-356B19.7-012, SLC2A8; RP11-356B19.7-014, SLC2A8; RP11-356B19.7-015, SLC2A8; hCG_28276, Slc2a8, Slc2a8; Glut8, GlutX1, hCG_28276, | 9q33.3 | 9 |  | [NAME] | 1 | 0 | 1 | 1
126969 | SLC44A3 | Choline transporter-like protein 3, Solute carrier family 44 member 3, solute carrier family 44, member 3, | CTL3, MGC45474, SLC44A3, UNQ558/PRO1115, | 1p21.3 | 1 |  | [NAME] | 1 | 0 | 1 | 0
57537 | SORCS2 | [NAME] domain-containing receptor SorCS2 precursor, sortilin-related VPS10 domain containing receptor 2, | KIAA1329, SORCS2; KIAA1329, Sorcs2, | 4p16.1 | 4 | This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The [NAME] domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the [NAME] domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein., | [NAME] | 1 | 0 | 1 | 0
64847 | SPATA20 | CDNA: FLJ21969 fis, clone HEP05692, Spermatogenesis-associated protein 20 precursor (Sperm-specific protein 411) (Ssp411), spermatogenesis associated 20, | DKFZp686H1839, FLJ21347, FLJ21969, MGC111032, [NAME], Ssp411, Tisp78, | 17q21.33 | 17 |  | [NAME] | 1 | 0 | 1 | 0
79029 | SPATA5L1 | CDNA FLJ12286 fis, clone MAMMA1001768, weakly similar to CELL DIVISION CYCLE PROTEIN 48 HOMOLOG MJ1156, CDNA FLJ13170 fis, clone NT2RP3003809, weakly similar to SAV PROTEIN, CDNA FLJ13170 fis, clone NT2RP3003809, weakly similar to SAV PROTEIN (cDNA FLJ78251), Spermatogenesis-associated protein 5-like protein 1, cDNA FLJ78251, spermatogenesis associated 5-like 1, | FLJ12286, MGC5347, SPATA5L1, | 15q21.1 | 15 |  | [NAME] | 1 | 0 | 1 | 1
569696711 | SPTBN1 | Beta II spectrin-short isoform, Beta II spectrin-short isoform (Fragment), Beta-II spectrin, Fodrin beta chain, Putative uncharacterized protein SPTBN1, Spectrin beta chain, brain 1, Spectrin beta chain, brain 1 (Spectrin, non-erythroid beta chain 1) (Beta-II spectrin) (Fodrin beta chain), Spectrin, beta, non-erythrocytic 1 isoform 1 variant, Spectrin, beta, non-erythrocytic 1 isoform 1 variant (Fragment), Spectrin, non-erythroid beta chain 1, ribosomal protein L23a pseudogene 13, spectrin, beta, non-erythrocytic 1, | DKFZp547I014, ELF, [NAME], [NAME], SPTBN1, SPTBN1; SPTB2, betaSpII, | 2p16.22p21 | 2 | Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene., | [NAME] | 1 | 0 | 0 | 1
6711 | SPTBN1 | Beta II spectrin-short isoform, Beta II spectrin-short isoform (Fragment), Beta-II spectrin, Fodrin beta chain, Putative uncharacterized protein SPTBN1, Spectrin beta chain, brain 1, Spectrin beta chain, brain 1 (Spectrin, non-erythroid beta chain 1) (Beta-II spectrin) (Fodrin beta chain), Spectrin, beta, non-erythrocytic 1 isoform 1 variant, Spectrin, beta, non-erythrocytic 1 isoform 1 variant (Fragment), Spectrin, non-erythroid beta chain 1, ribosomal protein L23a pseudogene 13, spectrin, beta, non-erythrocytic 1, | DKFZp547I014, ELF, [NAME], [NAME], SPTBN1, SPTBN1; SPTB2, betaSpII, | 2p16.2 2p21 | 2 | Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene., | [NAME] | 1 | 0 | 1 | 1
8878 | SQSTM1 | EBI3-associated protein of 60 kDa, EBIAP, [NAME], Phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDa, SQSTM1 protein, Sequestosome-1, Sequestosome-1 (Phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDa) (Ubiquitin-binding protein p62) (EBI3-associated protein of 60 kDa) (p60) (EBIAP), [NAME]-binding protein p62, sequestosome 1, | A170, OSIL, [NAME], P62, [NAME], SQSTM1, SQSTM1; ORCA, OSIL, ZIP3, orcA, p62B, | 5q35 | 5 |  | [NAME] | 1 | 1 | 1 | 1
63826 | SRR | Putative uncharacterized protein DKFZp762A2415, Putative uncharacterized protein DKFZp762A2415 (Fragment), SRR protein, [NAME] racemase, [NAME] racemase (EC 5.1.1.-), Serine racemase variant, [NAME] racemase, isoform [NAME], | DKFZp762A2415, SRR, hCG_32982, ilv1, iso1, | 17p13 | 17 |  | [NAME] | 1 | 0 | 1 | 0
6778 | STAT6 | IL-4 Stat, STAT6, STAT6 (Fragment), STAT6B, Signal transducer and activator of transcription 6, Signal transducer and activator of transcription 6 (IL-4 Stat), Signal transducer and activator of transcription 6 nirs variant 1, Signal transducer and activator of transcription 6 nirs variant 2, signal transducer and activator of transcription 6, interleukin-4 induced, | D12S1644, IL-4-STAT, STAT6B, STAT6C, Stat6, | 12q13 | 12 | The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins., | [NAME] | 1 | 0 | 1 | 1
261729 | [NAME] | PUMPCn, Protein upregulated in metastatic prostate cancer, Six transmembrane epithelial antigen of the prostate 2, isoform [NAME], Six transmembrane prostate protein v1, Six transmembrane prostate protein v1 (Six transmembrane epithelial antigen of the prostate 2, isoform [NAME]), Six transmembrane prostate protein v2, six transmembrane epithelial antigen of the prostate 2, | IPCA1, PCANAP1, PUMPCn, STAMP1, [NAME], [NAME]; hCG_17233, STMP, UNQ6507, hCG_17233, | 7q21 | 7 | This gene is a member of the STEAP family and encodes a multi-pass membrane protein that localizes to the Golgi complex, the plasma membrane, and the vesicular tubular structures in the cytosol. A highly similar protein in mouse has both ferrireductase and cupric reductase activity, and stimulates the cellular uptake of both iron and copper in vitro. Increased transcriptional expression of the human gene is associated with prostate cancer progression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized., | [NAME] | 1 | 0 | 0 | 1
8464 | SUPT3H | S. cerevisiae, SUPT3H protein, SUPT3H protein (Fragment), Suppressor of Ty 3 homolog, Suppressor of Ty 3 homolog (S. cerevisiae) (Suppressor of Ty 3 homolog (S. cerevisiae), isoform [NAME]), Suppressor of Ty 3 homolog (S. cerevisiae), isoform [NAME], Suppressor of Ty 3 homolog (S. cerevisiae), isoform CRA_b, suppressor of Ty 3 homolog (S. cerevisiae), | RP11-169I2.1, RP11-169I2.1-004, RP11-169I2.1-005, RP11-169I2.1-006, SPT3L, SUPT3H; RP11-169I2.1-004, SUPT3H; RP11-169I2.1-006, hCG_16890, Supt3h, hCG_16890, spt3, | 6p21.1-p21.3 | 6 |  | [NAME] | 1 | 0 | 0 | 1
6834 | SURF1 | SURF-1 protein, SURF-1 protein (Fragment), Surfeit 1, Surfeit 1 (Fragment), Surfeit 1 (cDNA FLJ76045, highly similar to Homo sapiens surfeit 1 (SURF1), mRNA), Surfeit locus protein 1, cDNA FLJ76045, highly similar to Homo sapiens surfeit 1 (SURF1), mRNA, | RP11-244N20.1-001, RP11-244N20.1-003, SURF-1, SURF1; RP11-244N20.1-001, SURF1; RP11-244N20.1-003, Surf1; Surf-1, surf1, | 9q34.2 | 9 | This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with [NAME] on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency., | [NAME] | 1 | 0 | 0 | 1
6838 | SURF6 | Surfeit locus protein 6, surfeit 6, | FLJ30322, RP11-244N20.6-001, SURF-6, [NAME], [NAME]; RP11-244N20.6-001, hCG_28149, Surf6; Surf-6, hCG_28149, | 9q34.2 | 9 | This gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity. The gene demonstrates features of a housekeeping gene, being ubiquitously expressed, and the encoded protein has been localized to the nucleolus. The protein includes motifs found in both the mouse and fish orthologs, which suggests a putative function as a nucleolar-matrix protein with nucleic acid-binding properties, based on characteristics determined in mouse., | [NAME] | 1 | 0 | 0 | 1
6891 | [NAME] | ABC-transporter, [NAME], ATP-binding cassette sub-family B member 3, Antigen peptide transporter 2, Antigen peptide transporter 2 (APT2) (ATP-binding cassette sub-family B member 3) ([NAME] transporter [NAME]) ([NAME] transporter [NAME]) (Peptide supply factor 2) (PSF-2) ([NAME] transporter involved in antigen processing 2), MDR/TAP, PSF-2, Peptide supply factor 2, [NAME] transporter [NAME], [NAME] transporter [NAME], [NAME] transporter involved in antigen processing 2, TAP (Fragment), [NAME] protein (Fragment), [NAME]-associated 6.5 kDa polypeptide, Tap, Tap2 protein, Tap2 transporter isoform, [NAME] 2 ATP-binding cassette sub-family B, [NAME] 2 isoform, [NAME], ATP-binding cassette, sub-family B, Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP), isoform [NAME], [NAME], ATP-binding cassette, sub-family B (MDR/TAP), isoform [NAME], Transporter 2, ATP-binding cassette, sub-family B isoform 1 variant, cDNA FLJ77215, highly similar to Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP), mRNA, transporter 2, ATP-binding cassette, sub-family B (MDR/TAP), | ABC18, APT2, D6S217E, DAQB-69D7.2, DAQB-69D7.2-001, DAQB-69D7.2-002, DASS-193J13.1-001, DASS-193J13.1-002, PSF2, RING11, [NAME], TAP2-G, [NAME]; ABCB3, PSF2, RING11, [NAME], XXbac-BCX32M13.2-001, XXbac-BCX32M13.2-002, [NAME], [NAME], [NAME], abcb3, hCG_2001583, | 6p21.3 | 6 | The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intra-cellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the MDR/TAP subfamily.  Members of the MDR/TAP subfamily are involved in multidrug resistance.  This gene is located 7 kb telomeric to gene family member ABCB2.  The protein encoded by this gene is involved in antigen presentation.  This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum.  Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease.  Alternative splicing of this gene produces two products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules., | [NAME] | 1 | 0 | 1 | 0
51256 | TBC1D7 | CDNA [NAME] fis, clone TESTI1000096, Putative uncharacterized protein DKFZp686N2317, TBC1 domain family member 7, TBC1 domain family, member 7, TBC1 domain family, member 7 (Fragment), TBC1 domain family, member 7 (TBC1 domain family, member 7, isoform [NAME]), TBC1 domain family, member 7 variant, [NAME] domain family, member 7, isoform [NAME], TBC1 domain family, member 7, isoform [NAME], TBC1D7 protein, | DKFZp686N2317, FLJ32666, HSPC239, PIG51, [NAME], [NAME], [NAME], [NAME], [NAME], [NAME], [NAME], RP1-49A18.2-011, TBC1D7, TBC1D7; HSPC239, TBC1D7; [NAME], TBC1D7; [NAME], TBC1D7; [NAME], TBC1D7; [NAME], TBC1D7; [NAME], TBC1D7; [NAME], TBC1D7; [NAME], hCG_37421, TBC1D7; [NAME], TBC7, dJ257A7.3, hCG_37421, | 6p24.1 | 6 |  | [NAME] | 1 | 0 | 1 | 1
10732 | TCFL5 | Cha transcription factor, E2BP-1, HPV-16 E2-binding protein 1, TCFL5 protein, Transcription factor-like 5 protein, Transcription factor-like 5 protein (Cha transcription factor) (HPV-16 E2-binding protein 1) (E2BP-1), transcription factor-like 5 (basic helix-loop-helix), | Cha, E2BP-1, E2BP1, [NAME], MGC46135, TCFL5, TCFL5; CHA, E2BP1, | 20q13.3-qter | 20 |  | [NAME] | 1 | 0 | 1 | 1
55258 | THNSL2 | Threonine synthase-like 2 (EC 4.2.3.-) (TSH2), threonine synthase-like 2 (S. cerevisiae), | FLJ10916, THNSL2, Tsh2, | 2p11.2 | 2 |  | [NAME] | 1 | 1 | 0 | 1
26519 | TIMM10 | Mitochondrial import inner membrane translocase subunit Tim10, translocase of inner mitochondrial membrane 10 homolog (yeast), | TIM10, TIM10A, [NAME], Timm10; Tim10, | 11q12.1-q12.3 | 11 | TIMM10 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM], | [NAME] | 1 | 0 | 1 | 1
58986 | TMEM8 | [NAME], [NAME] protein 8 precursor, [NAME] 6, transmembrane protein 8 (five membrane-spanning domains), | M83, TMEM6, TMEM8, | 16p13.3 | 16 |  | [NAME] | 1 | 0 | 1 | 1
283232 | TMEM80 | [NAME] protein 80, | FLJ38216, TMEM80, | 11p15.5 | 11 |  | [NAME] | 1 | 0 | 1 | 0
219931 | TPCN2 | Two pore calcium channel protein 2 (Voltage-dependent calcium channel protein TPC2), Two pore segment channel 2 variant, two pore segment channel 2, | FLJ41094, TPCN2, TPCN2; TPC2, tpc2, | 11q13.2 | 11 |  | [NAME] | 1 | 0 | 1 | 1
11277 | TREX1 | 3'-5' exonuclease [NAME], ATM and Rad3-related-interacting protein, ATR-interacting protein, ATR-interacting protein (ATM and Rad3-related-interacting protein), DNase III, Putative uncharacterized protein DKFZp762J2115, Putative uncharacterized protein DKFZp762J2115 (Fragment), TREX1 protein, Three prime repair exonuclease 1 (EC 3.1.11.2) (3'-5' exonuclease [NAME]) (DNase III), Three prime repair exonuclease 1 (Three prime repair exonuclease 1, isoform [NAME]), Three prime repair exonuclease 1, isoform [NAME], three prime repair exonuclease 1, | AGS1, AGS5, ATRIP; AGS1, CRV, DKFZp434J0310, DKFZp762J2115, [NAME], FLJ12343, HERNS, [NAME], MGC21482, MGC26740, TREX1, TREX1; hCG_1997849, atrip, hCG_1997849, | 3p21.31 3p24.3-p22.1 | 3 | This gene encodes the major 3'->5' DNA exonuclease in human cells. The protein is a non-processive exonuclease that may serve a proofreading function for a human DNA polymerase. It is also a component of the SET complex, and acts to rapidly degrade 3' ends of nicked DNA during granzyme A-mediated cell death. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, and Cree encephalitis. Multiple transcript variants encoding different isoforms have been found for this gene., | [NAME] | 1 | 0 | 1 | 0
23555 | TSPAN15 | Tetraspan NET-7, Tetraspanin-15, Tetraspanin-15 (Tspan-15) (Transmembrane 4 superfamily member 15) (Tetraspan NET-7), [NAME] superfamily member 15, Tspan-15, tetraspanin 15, | 2700063A19Rik, NET-7, NET7, TM4SF15, TSPAN15, TSPAN15; NET7, TM4SF15; UNQ677/PRO1311, UNQ677/PRO1311, | 10q21.3 | 10 | The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene., | [NAME] | 1 | 0 | 1 | 0
64927 | TTC23 | Tetratricopeptide repeat protein 23 (TPR repeat protein 23) (Cervical cancer proto-oncogene 8 protein) ([NAME]), tetratricopeptide repeat domain 23, | FLJ12572, [NAME], [NAME], TTC23, TTC23; [NAME], | 15q26.3 | 15 |  | [NAME] | 1 | 0 | 1 | 0
199746 | U2AF1L4 | CDNA FLJ35525 fis, clone SPLEN2001650, U2 small nuclear RNA auxiliary factor 1-like 4, | FLJ35525, MGC33901, U2AF1-RS3, U2AF1L3, U2AF1L3V1, U2AF1L4, U2AF1RS3, U2af26, | 19q13.12 | 19 |  | [NAME] | 1 | 0 | 1 | 0
7390 | UROS | Congenital erythropoietic porphyria, Hydroxymethylbilane hydrolyase [cyclizing], Putative uncharacterized protein, UROIIIS, UROS, Uroporphyrinogen III synthase, Uroporphyrinogen III synthase (Congenital erythropoietic porphyria) (Uroporphyrinogen III synthase (Congenital erythropoietic porphyria), isoform [NAME]), Uroporphyrinogen III synthase (Congenital erythropoietic porphyria), isoform [NAME], Uroporphyrinogen-III cosynthetase, Uroporphyrinogen-III synthase, Uroporphyrinogen-III synthase (EC 4.2.1.75) (UROS) (Uroporphyrinogen- III cosynthetase) (Hydroxymethylbilane hydrolyase [cyclizing]) (UROIIIS), uroporphyrinogen III synthase (congenital erythropoietic porphyria), | RP11-124H7.1-003, RP11-124H7.1-006, UROS, UROS; RP11-124H7.1-003, hCG_1727047, UROS; RP11-124H7.1-006, hCG_1727047, | 10q25.2-q26.3 | 10 | The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease)., | [NAME] | 1 | 0 | 1 | 1
6843 | VAMP1 | Synaptobrevin-1, VAMP-1, Vesicle-associated membrane protein 1 (VAMP-1) (Synaptobrevin-1), vesicle-associated membrane protein 1, vesicle-associated membrane protein 1 (synaptobrevin 1), | DKFZp686H12131, Syb1, VAMP-1, [NAME]; Syb1, [NAME], | 12p | 12 | Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. VAMP1 is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Multiple alternative splice variants that encode proteins with alternative carboxy ends have been described, but the full-length nature of some variants has not been defined., | [NAME] | 1 | 0 | 0 | 1
51231 | VRK3 | CDNA FLJ41898 fis, clone OCBBF2037398, CDNA FLJ43759 fis, clone TESTI2047071, [NAME]/threonine-protein kinase VRK3, [NAME]/threonine-protein kinase VRK3 (EC 2.7.11.1) (Vaccinia-related kinase 3), Vaccinia related kinase 3, Vaccinia-related kinase 3, | VRK3, | 19q13 | 19 | This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. In both human and mouse, this gene has substitutions at several residues within the ATP binding motifs that in other kinases have been shown to be required for catalysis. In vitro assays indicate the protein lacks phosphorylation activity. The protein, however, likely retains its substrate binding capability. This gene is widely expressed in human tissues and its protein localizes to the nucleus. Alternative splicing results in multiple transcripts encoding different isoforms., | [NAME] | 1 | 0 | 0 | 1
26094 | WDR21A | Full-length cDNA clone CS0DJ006YD20 of T cells (Jurkat cell line) of Homo sapiens, WD repeat domain 21A, WD repeat-containing protein 21A, human, | DKFZp434K114, MGC20547, MGC46524, WDR21A, WDR21A; WDR21, Wdr21, | 14q24.3 | 14 | This gene encodes a WD repeat-containing protein. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined., | [NAME] | 1 | 0 | 1 | 0
55255 | WDR41 | WD repeat domain 41, WD repeat-containing protein 41, | FLJ10904, MSTP048, WDR41; MSTP048, Wdr41, | 5q14.1 | 5 |  | [NAME] | 1 | 0 | 1 | 0
57599 | WDR48 | P80, WD repeat domain 48, WD repeat endosomal protein, WD repeat-containing protein 48, WD repeat-containing protein 48 (WD repeat endosomal protein) (p80), | DKFZp686G1794, KIAA1449, [NAME], WDR48, Wdr48; Kiaa1449, | 3p21.33 | 3 |  | [NAME] | 1 | 0 | 1 | 0
54853 | WDR55 | CDNA FLJ20195 fis, clone COLF0930, WD repeat domain 55, WD repeat-containing protein 55, | FLJ20195, FLJ21702, Wdr55, | 5q31.3 | 5 |  | [NAME] | 1 | 0 | 1 | 0
84936 | ZFYVE19 | MLL partner containing FYVE domain, ZFYVE19 protein variant, Zinc finger FYVE domain-containing protein 19, Zinc finger FYVE domain-containing protein 19 (MLL partner containing FYVE domain), zinc finger, FYVE domain containing 19, | FLJ14840, MPFYVE, ZFYVE19, ZFYVE19; MPFYVE, | 15q15.1 | 15 |  | [NAME] | 1 | 0 | 1 | 1
10781 | ZNF266 | HZF1, Zinc finger protein 1, Zinc finger protein 266, Zinc finger protein 266 (Zinc finger protein 1) (HZF1), | HZF1, KIAA2007, ZNF266, ZNF266; KIAA2007, | 19p13.2 | 19 |  | [NAME] | 1 | 1 | 1 | 1
64288 | ZNF323 | CDNA: FLJ23407 fis, clone HEP19601, Putative uncharacterized protein DKFZp313M0722, ZNF323 protein, Zinc finger protein 323, Zinc finger protein 323, isoform [NAME], | DKFZp313M0722, FLJ23407, [NAME], ZNF310P, ZNF323, ZNF323; ZNF310P, dJ874C20.2, hCG_1770259, | 6p21.31 | 6 |  | [NAME] | 1 | 1 | 0 | 0
79744 | ZNF419 | Zinc finger protein 419, Zinc finger protein 419 variant, Zinc finger protein 419 variant (Fragment), | FLJ23233, ZNF419, ZNF419; ZNF419A, ZNF419A, | 19q13.43 | 19 |  | [NAME] | 1 | 1 | 0 | 0
51385 | ZNF589 | KRAB domain-containing zinc finger protein SZF1, ZNF589 protein, Zinc finger protein 589 (KRAB domain-containing zinc finger protein SZF1) (Fragment), Zinc finger protein 589 (Stem cell zinc finger protein 1), zinc finger protein 589, | Szf1, ZNF589, ZNF589; SZF1, | 3p21 | 3 |  | [NAME] | 1 | 0 | 0 | 1
51042 | ZNF593 | Zinc finger protein 593, Zinc finger protein 593 (Zinc finger protein T86), Zinc finger protein T86, | RP11-96L14.6-001, ZNF593, ZNF593; RP11-96L14.6-001, hCG_40586, ZT86, hCG_40586, | 1p36.11 | 1 |  | [NAME] | 1 | 0 | 1 | 0
7637 | ZNF84 | Zinc finger protein 84, Zinc finger protein 84 (Zinc finger protein HPF2), Zinc finger protein HPF2, | HPF2, ZNF84, | 12q24.33 | 12 |  | [NAME] | 1 | 0 | 1 | 0
9479 | MAPK8IP1 | mitogen-activated protein kinase 8 interacting protein 1 | IB1; [NAME]; [NAME]; PRKM8IP; MAPK8IP1 | 11p12-p11.2 | 11 | The protein encoded by this gene is a regulator of the pancreatic beta-cell function. It is highly similar to [NAME], a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq] | trans | 1 | 0 | 1 | 0