psui3905/ncbi_genes_summary huggingface dataset:
LYZ, Official Symbol LYZprovided by HGNC Official Full Name lysozymeprovided by HGNC Primary source HGNC:HGNC:6740 See related Ensembl:ENSG00000090382 MIM:153450; AllianceGenome:HGNC:6740 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LZM; LYZF1 Summary This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014] Expression Biased expression in stomach (RPKM 5710.8), salivary gland (RPKM 4398.2) and 8 other tissues See more Orthologs all
LYZL1, Official Symbol LYZL1provided by HGNC Official Full Name lysozyme like 1provided by HGNC Primary source HGNC:HGNC:30502 See related Ensembl:ENSG00000120563 AllianceGenome:HGNC:30502 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LYC2; LYZD1; KAAG648; PRO1278; bA534G20.1 Summary Predicted to enable lysozyme activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 12.4) See more Orthologs all
LYZL2, Official Symbol LYZL2provided by HGNC Official Full Name lysozyme like 2provided by HGNC Primary source HGNC:HGNC:29613 See related Ensembl:ENSG00000151033 MIM:612748; AllianceGenome:HGNC:29613 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LYZD2 Summary Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL2 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM, Apr 2009] Expression Restricted expression toward testis (RPKM 14.7) See more Orthologs all
LYZL4, Official Symbol LYZL4provided by HGNC Official Full Name lysozyme like 4provided by HGNC Primary source HGNC:HGNC:28387 See related Ensembl:ENSG00000157093 MIM:612750; AllianceGenome:HGNC:28387 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LYC4; LYZA Summary Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL4 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM, Apr 2009] Expression Restricted expression toward testis (RPKM 6.7) See more Orthologs mouse all
LYZL6, Official Symbol LYZL6provided by HGNC Official Full Name lysozyme like 6provided by HGNC Primary source HGNC:HGNC:29614 See related Ensembl:ENSG00000275722 MIM:612751; AllianceGenome:HGNC:29614 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LYC1; LYZB; UNQ754; PRO1485; TKAL754; HEL-S-6a Summary This gene encodes a member of the C-type lysozyme/alpha-lactalbumin family. C-type lysozymes are bacteriolytic factors that play a role in host defense, whereas alpha-lactalbumins mediate lactose biosynthesis. The encoded protein contains catalytic residues characteristic of C-type lysozymes and may play a role in male reproduction. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011] Expression Restricted expression toward testis (RPKM 15.7) See more Orthologs mouse all
LZIC, Official Symbol LZICprovided by HGNC Official Full Name leucine zipper and CTNNBIP1 domain containingprovided by HGNC Primary source HGNC:HGNC:17497 See related Ensembl:ENSG00000162441 MIM:610458; AllianceGenome:HGNC:17497 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable beta-catenin binding activity. Predicted to be involved in response to ionizing radiation. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 8.7), colon (RPKM 7.1) and 25 other tissues See more Orthologs mouse all
LZTFL1, Official Symbol LZTFL1provided by HGNC Official Full Name leucine zipper transcription factor like 1provided by HGNC Primary source HGNC:HGNC:6741 See related Ensembl:ENSG00000163818 MIM:606568; AllianceGenome:HGNC:6741 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BBS17 Summary This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. [provided by RefSeq, Aug 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Broad expression in testis (RPKM 18.3), thyroid (RPKM 11.9) and 24 other tissues See more Orthologs mouse all
LZTR1, Official Symbol LZTR1provided by HGNC Official Full Name leucine zipper like post translational regulator 1provided by HGNC Primary source HGNC:HGNC:6742 See related Ensembl:ENSG00000099949 MIM:600574; AllianceGenome:HGNC:6742 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NS2; NS10; BTBD29; LZTR-1; SWNTS2 Summary This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 12.6), ovary (RPKM 12.5) and 25 other tissues See more Orthologs mouse all
LZTS1, Official Symbol LZTS1provided by HGNC Official Full Name leucine zipper tumor suppressor 1provided by HGNC Primary source HGNC:HGNC:13861 See related Ensembl:ENSG00000061337 MIM:606551; AllianceGenome:HGNC:13861 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as F37; FEZ1 Summary This gene encodes a tumor suppressor protein that is ubiquitously expressed in normal tissues. In uveal melanomas, expression of this protein is silenced in rapidly metastasizing and metastatic tumor cells but has normal expression in slowly metastasizing or nonmetastasizing tumor cells. This protein may have a role in cell-cycle control by interacting with the Cdk1/cyclinB1 complex. This gene is located on chromosomal region 8p22. Loss of heterozygosity (LOH) in the 8p arm is a common characteristic of many types of cancer. [provided by RefSeq, Nov 2009] Expression Broad expression in testis (RPKM 4.1), brain (RPKM 3.1) and 19 other tissues See more Orthologs mouse all
LZTS1-AS1, Official Symbol LZTS1-AS1provided by HGNC Official Full Name LZTS1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:43630 See related Ensembl:ENSG00000253733 AllianceGenome:HGNC:43630 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
LZTS2, Official Symbol LZTS2provided by HGNC Official Full Name leucine zipper tumor suppressor 2provided by HGNC Primary source HGNC:HGNC:29381 See related Ensembl:ENSG00000107816 MIM:610454; AllianceGenome:HGNC:29381 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LAPSER1 Summary The protein encoded by this gene belongs to the leucine zipper tumor suppressor family of proteins, which function in transcription regulation and cell cycle control. This family member can repress beta-catenin-mediated transcriptional activation and is a negative regulator of the Wnt signaling pathway. It negatively regulates microtubule severing at centrosomes, and is necessary for central spindle formation and cytokinesis completion. It is implicated in cancer, where it may inhibit cell proliferation and decrease susceptibility to tumor development. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in endometrium (RPKM 12.4), fat (RPKM 11.4) and 25 other tissues See more Orthologs mouse all
LZTS3, Official Symbol LZTS3provided by HGNC Official Full Name leucine zipper tumor suppressor family member 3provided by HGNC Primary source HGNC:HGNC:30139 See related Ensembl:ENSG00000088899 MIM:610484; AllianceGenome:HGNC:30139 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PROSAPIP1 Summary Predicted to enable PDZ domain binding activity and protein self-association. Predicted to be involved in protein homooligomerization and regulation of dendritic spine morphogenesis. Predicted to be located in postsynaptic density. Predicted to be active in dendritic spine. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 17.2), kidney (RPKM 9.1) and 19 other tissues See more Orthologs mouse all
M1AP, Official Symbol M1APprovided by HGNC Official Full Name meiosis 1 associated proteinprovided by HGNC Primary source HGNC:HGNC:25183 See related Ensembl:ENSG00000159374 MIM:619098; AllianceGenome:HGNC:25183 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as D6Mm5e; SPGF48; C2orf65; SPATA37 Summary This gene encodes a protein that is likely to function in progression of meiosis. A similar protein in mouse plays a role in gametogenesis in both sexes. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] Expression Biased expression in testis (RPKM 3.3), bone marrow (RPKM 2.4) and 8 other tissues See more Orthologs mouse all
M6PR, Official Symbol M6PRprovided by HGNC Official Full Name mannose-6-phosphate receptor, cation dependentprovided by HGNC Primary source HGNC:HGNC:6752 See related Ensembl:ENSG00000003056 MIM:154540; AllianceGenome:HGNC:6752 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SMPR; MPR46; CD-MPR; MPR 46; MPR-46; CD-M6PR Summary This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function through the specific transport of mannose-6-phosphate-containing acid hydrolases from the Golgi complex to lysosomes. The encoded protein functions as a homodimer and requires divalent cations for ligand binding. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, May 2011] Expression Ubiquitous expression in appendix (RPKM 59.8), lymph node (RPKM 57.5) and 25 other tissues See more Orthologs mouse all
MAB21L1, Official Symbol MAB21L1provided by HGNC Official Full Name mab-21 like 1provided by HGNC Primary source HGNC:HGNC:6757 See related Ensembl:ENSG00000180660 MIM:601280; AllianceGenome:HGNC:6757 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as COFG; CAGR1; Nbla00126 Summary This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008] Orthologs mouse all
MAB21L2, Official Symbol MAB21L2provided by HGNC Official Full Name mab-21 like 2provided by HGNC Primary source HGNC:HGNC:6758 See related Ensembl:ENSG00000181541 MIM:604357; AllianceGenome:HGNC:6758 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MCOPS14; MCSKS14 Summary This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008] Orthologs mouse all
MAB21L3, Official Symbol MAB21L3provided by HGNC Official Full Name mab-21 like 3provided by HGNC Primary source HGNC:HGNC:26787 See related Ensembl:ENSG00000173212 AllianceGenome:HGNC:26787 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as D5; C1orf161 Expression Biased expression in esophagus (RPKM 2.5), skin (RPKM 1.9) and 7 other tissues See more Orthologs mouse all
MAB21L4, Official Symbol MAB21L4provided by HGNC Official Full Name mab-21 like 4provided by HGNC Primary source HGNC:HGNC:26216 See related Ensembl:ENSG00000172478 AllianceGenome:HGNC:26216 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C2orf54 Expression Biased expression in esophagus (RPKM 32.6), skin (RPKM 11.1) and 3 other tissues See more Orthologs mouse all
MACC1, Official Symbol MACC1provided by HGNC Official Full Name MET transcriptional regulator MACC1provided by HGNC Primary source HGNC:HGNC:30215 See related Ensembl:ENSG00000183742 MIM:612646; AllianceGenome:HGNC:30215 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 7A5; SH3BP4L Summary MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).[supplied by OMIM, Mar 2009] Expression Broad expression in small intestine (RPKM 6.2), duodenum (RPKM 5.1) and 17 other tissues See more Orthologs mouse all
MACC1-AS1, Official Symbol MACC1-AS1provided by HGNC Official Full Name MACC1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41257 See related Ensembl:ENSG00000228598 AllianceGenome:HGNC:41257 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
MACF1, Official Symbol MACF1provided by HGNC Official Full Name microtubule actin crosslinking factor 1provided by HGNC Primary source HGNC:HGNC:13664 See related Ensembl:ENSG00000127603 MIM:608271; AllianceGenome:HGNC:13664 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ACF7; LIS9; MACF; OFC4; ABP620; KIAA0754; Lnc-PMIF Summary This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013] Expression Ubiquitous expression in lung (RPKM 17.3), ovary (RPKM 13.9) and 25 other tissues See more Orthologs mouse all
MACIR, Official Symbol MACIRprovided by HGNC Official Full Name macrophage immunometabolism regulatorprovided by HGNC Primary source HGNC:HGNC:25052 See related Ensembl:ENSG00000181751 MIM:616608; AllianceGenome:HGNC:25052 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C5orf30 Summary This gene, MACIR (previously known as C5orf30), has been associated with rheumatoid arthritis, functioning as a negative regulator of tissue damage and modulating the activity of synovial fibroblasts and macrophages. The encoded protein is highly conserved in vertebrate genomes but has no significant similarity to any other human protein. [provided by RefSeq, Dec 2019] Expression Broad expression in colon (RPKM 11.1), brain (RPKM 10.1) and 23 other tissues See more Orthologs mouse all
MACO1, Official Symbol MACO1provided by HGNC Official Full Name macoilin 1provided by HGNC Primary source HGNC:HGNC:25572 See related Ensembl:ENSG00000204178 MIM:610301; AllianceGenome:HGNC:25572 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TMEM57; MACOILIN Summary Predicted to enable actin filament binding activity and microtubule binding activity. Involved in neuronal signal transduction. Located in rough endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 13.0), bone marrow (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
MACORIS, Official Symbol MACORISprovided by HGNC Official Full Name macrophage enriched lincRNA repressor of IFN-gamma signalingprovided by HGNC Primary source HGNC:HGNC:53963 See related Ensembl:ENSG00000237797 AllianceGenome:HGNC:53963 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
MACROD1, Official Symbol MACROD1provided by HGNC Official Full Name mono-ADP ribosylhydrolase 1provided by HGNC Primary source HGNC:HGNC:29598 See related Ensembl:ENSG00000133315 MIM:610400; AllianceGenome:HGNC:29598 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LRP16 Summary Enables ADP-ribosylglutamate hydrolase activity and deacetylase activity. Involved in cellular response to DNA damage stimulus; peptidyl-glutamate ADP-deribosylation; and purine nucleoside metabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 9.5), prostate (RPKM 2.7) and 22 other tissues See more Orthologs mouse all
MACROD2, Official Symbol MACROD2provided by HGNC Official Full Name mono-ADP ribosylhydrolase 2provided by HGNC Primary source HGNC:HGNC:16126 See related Ensembl:ENSG00000172264 MIM:611567; AllianceGenome:HGNC:16126 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C2orf133; C20orf133 Summary The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017] Expression Broad expression in lung (RPKM 4.7), brain (RPKM 4.0) and 20 other tissues See more Orthologs mouse all
MACROD2-AS1, Official Symbol MACROD2-AS1provided by HGNC Official Full Name MACROD2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:37193 See related Ensembl:ENSG00000235914 AllianceGenome:HGNC:37193 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BA318C17.1; NCRNA00186 Expression Restricted expression toward testis (RPKM 3.1) See more
MACROD2-IT1, Official Symbol MACROD2-IT1provided by HGNC Official Full Name MACROD2 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:16201 See related Ensembl:ENSG00000227927 AllianceGenome:HGNC:16201 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C20orf68; bA467D7.4; NCRNA00227 Expression Low expression observed in reference dataset See more
MACROH2A1, Official Symbol MACROH2A1provided by HGNC Official Full Name macroH2A.1 histoneprovided by HGNC Primary source HGNC:HGNC:4740 See related Ensembl:ENSG00000113648 MIM:610054; AllianceGenome:HGNC:4740 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as H2A.y; H2A/y; H2AFY; mH2A1; H2AF12M; MACROH2A1.1; macroH2A1.2 Summary Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015] Expression Ubiquitous expression in bone marrow (RPKM 29.8), esophagus (RPKM 11.4) and 24 other tissues See more Orthologs mouse all
MACROH2A2, Official Symbol MACROH2A2provided by HGNC Official Full Name macroH2A.2 histoneprovided by HGNC Primary source HGNC:HGNC:14453 See related Ensembl:ENSG00000099284 MIM:616141; AllianceGenome:HGNC:14453 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as H2AFY2 Summary Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and may participate in stable X chromosome inactivation. [provided by RefSeq, Oct 2015] Expression Ubiquitous expression in endometrium (RPKM 13.3), prostate (RPKM 7.9) and 23 other tissues See more Orthologs mouse all
MAD1L1, Official Symbol MAD1L1provided by HGNC Official Full Name mitotic arrest deficient 1 like 1provided by HGNC Primary source HGNC:HGNC:6762 See related Ensembl:ENSG00000002822 MIM:602686; AllianceGenome:HGNC:6762 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MAD1; MVA7; PIG9; TP53I9; TXBP181 Summary MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Expression Ubiquitous expression in testis (RPKM 4.4), spleen (RPKM 4.1) and 25 other tissues See more Orthologs mouse all
MAD2L1, Official Symbol MAD2L1provided by HGNC Official Full Name mitotic arrest deficient 2 like 1provided by HGNC Primary source HGNC:HGNC:6763 See related Ensembl:ENSG00000164109 MIM:601467; AllianceGenome:HGNC:6763 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MAD2; HSMAD2 Summary MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 15.9), lymph node (RPKM 15.1) and 23 other tissues See more Orthologs mouse all
MAD2L1BP, Official Symbol MAD2L1BPprovided by HGNC Official Full Name MAD2L1 binding proteinprovided by HGNC Primary source HGNC:HGNC:21059 See related Ensembl:ENSG00000124688 MIM:618136; AllianceGenome:HGNC:21059 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMT2 Summary The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 14.5), duodenum (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
MAD2L2, Official Symbol MAD2L2provided by HGNC Official Full Name mitotic arrest deficient 2 like 2provided by HGNC Primary source HGNC:HGNC:6764 See related Ensembl:ENSG00000116670 MIM:604094; AllianceGenome:HGNC:6764 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as REV7; FANCV; MAD2B; POLZ2 Summary The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 22.7), bone marrow (RPKM 15.4) and 25 other tissues See more Orthologs mouse all
MADCAM1, Official Symbol MADCAM1provided by HGNC Official Full Name mucosal vascular addressin cell adhesion molecule 1provided by HGNC Primary source HGNC:HGNC:6765 See related Ensembl:ENSG00000099866 MIM:102670; AllianceGenome:HGNC:6765 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MACAM1 Summary The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a member of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein isoforms have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] Expression Biased expression in appendix (RPKM 6.2), spleen (RPKM 4.9) and 6 other tissues See more Orthologs mouse all
MADD, Official Symbol MADDprovided by HGNC Official Full Name MAP kinase activating death domainprovided by HGNC Primary source HGNC:HGNC:6766 See related Ensembl:ENSG00000110514 MIM:603584; AllianceGenome:HGNC:6766 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DENN; IG20; DEEAH; RabGEF; NEDDISH; RAB3GEP Summary Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 27.7), testis (RPKM 18.3) and 25 other tissues See more Orthologs mouse all
MADD-AS1, Official Symbol MADD-AS1provided by HGNC Official Full Name MADD antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40354 See related Ensembl:ENSG00000256746 AllianceGenome:HGNC:40354 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
MAEA, Official Symbol MAEAprovided by HGNC Official Full Name macrophage erythroblast attacher, E3 ubiquitin ligaseprovided by HGNC Primary source HGNC:HGNC:13731 See related Ensembl:ENSG00000090316 MIM:606801; AllianceGenome:HGNC:13731 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EMP; EMLP; GID9; PIG5; HLC-10; P44EMLP Summary This gene encodes a protein that mediates the attachment of erythroblasts to macrophages. This attachment promotes terminal maturation and enucleation of erythroblasts, presumably by suppressing apoptosis. The encoded protein is an integral membrane protein with the N-terminus on the extracellular side and the C-terminus on the cytoplasmic side of the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in kidney (RPKM 10.3), spleen (RPKM 10.0) and 25 other tissues See more Orthologs mouse all
MAEL, Official Symbol MAELprovided by HGNC Official Full Name maelstrom spermatogenic transposon silencerprovided by HGNC Primary source HGNC:HGNC:25929 See related Ensembl:ENSG00000143194 MIM:611368; AllianceGenome:HGNC:25929 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CT128; SPATA35 Summary Predicted to enable sequence-specific DNA binding activity. Predicted to be involved in gamete generation; negative regulation of macromolecule metabolic process; and piRNA metabolic process. Predicted to act upstream of or within several processes, including homologous chromosome pairing at meiosis; intrinsic apoptotic signaling pathway in response to DNA damage; and negative regulation of macromolecule metabolic process. Predicted to be located in piP-body. Predicted to be active in P granule and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 61.7) See more Orthologs mouse all
MAF, Official Symbol MAFprovided by HGNC Official Full Name MAF bZIP transcription factorprovided by HGNC Primary source HGNC:HGNC:6776 See related Ensembl:ENSG00000178573 MIM:177075; AllianceGenome:HGNC:6776 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CCA4; AYGRP; c-MAF; CTRCT21 Summary The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] Expression Ubiquitous expression in kidney (RPKM 1.3), endometrium (RPKM 0.9) and 24 other tissues See more Orthologs mouse all
MAF1, Official Symbol MAF1provided by HGNC Official Full Name MAF1 homolog, negative regulator of RNA polymerase IIIprovided by HGNC Primary source HGNC:HGNC:24966 See related Ensembl:ENSG00000179632 MIM:610210; AllianceGenome:HGNC:24966 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a protein that is similar to Maf1, a Saccharomyces cerevisiae protein highly conserved in eukaryotic cells. Yeast Maf1 is a negative effector of RNA polymerase III (Pol III). It responds to changes in the cellular environment and represses pol III transcription. Biochemical studies identified the initiation factor TFIIIB as a target for Maf1-dependent repression. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 39.1), ovary (RPKM 34.7) and 25 other tissues See more Orthologs mouse all
MAFA, Official Symbol MAFAprovided by HGNC Official Full Name MAF bZIP transcription factor Aprovided by HGNC Primary source HGNC:HGNC:23145 See related Ensembl:ENSG00000182759 MIM:610303; AllianceGenome:HGNC:23145 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as INSDM; hMafA; RIPE3b1 Summary MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008] Orthologs mouse all
MAFA-AS1, Official Symbol MAFA-AS1provided by HGNC Official Full Name MAFA antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51203 See related Ensembl:ENSG00000254338 AllianceGenome:HGNC:51203 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCONS_00014882 Expression Low expression observed in reference dataset See more
MAFB, Official Symbol MAFBprovided by HGNC Official Full Name MAF bZIP transcription factor Bprovided by HGNC Primary source HGNC:HGNC:6408 See related Ensembl:ENSG00000204103 MIM:608968; AllianceGenome:HGNC:6408 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KRML; MCTO; DURS3 Summary The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008] Orthologs mouse all
MAFF, Official Symbol MAFFprovided by HGNC Official Full Name MAF bZIP transcription factor Fprovided by HGNC Primary source HGNC:HGNC:6780 See related Ensembl:ENSG00000185022 MIM:604877; AllianceGenome:HGNC:6780 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as U-MAF; hMafF Summary The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin receptor (OTR) gene and most likely heterodimerizes with other leucine zipper-containing proteins to enhance expression of the OTR gene during term pregnancy. The encoded protein can also form homodimers, and since it lacks a transactivation domain, the homodimer may act as a repressor of transcription. This gene may also be involved in the cellular stress response. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] Expression Ubiquitous expression in gall bladder (RPKM 22.1), fat (RPKM 18.9) and 25 other tissues See more Orthologs mouse all
MAFG, Official Symbol MAFGprovided by HGNC Official Full Name MAF bZIP transcription factor Gprovided by HGNC Primary source HGNC:HGNC:6781 See related Ensembl:ENSG00000197063 MIM:602020; AllianceGenome:HGNC:6781 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as hMAF Summary Globin gene expression is regulated through nuclear factor erythroid-2 (NFE2) elements located in enhancer-like locus control regions positioned many kb upstream of alpha- and beta-gene clusters (summarized by Blank et al., 1997 [PubMed 9166829]). NFE2 DNA-binding activity consists of a heterodimer containing a ubiquitous small Maf protein (MafF, MIM 604877; MafG; or MafK, MIM 600197) and the tissue-restricted protein p45 NFE2 (MIM 601490). Both subunits are members of the activator protein-1-like superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160).[supplied by OMIM, Mar 2010] Expression Ubiquitous expression in bone marrow (RPKM 12.5), brain (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
MAFK, Official Symbol MAFKprovided by HGNC Official Full Name MAF bZIP transcription factor Kprovided by HGNC Primary source HGNC:HGNC:6782 See related Ensembl:ENSG00000198517 MIM:600197; AllianceGenome:HGNC:6782 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as P18; NFE2U Summary The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are associated with powerful enhancer activity that is mediated by the transcription factor NFE2 (nuclear factor erythroid-2). NFE2 recognition sites are also present in the gene promoters of 2 heme biosynthetic enzymes, porphobilinogen deaminase (PBGD; MIM 609806) and ferrochelatase (FECH; MIM 612386). NFE2 DNA-binding activity consists of a heterodimer containing an 18-kD Maf protein (MafF, MafG (MIM 602020), or MafK) and p45 (MIM 601490). Both subunits are members of the activator protein-1 superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160). Maf homodimers suppress transcription at NFE2 sites.[supplied by OMIM, Nov 2008] Expression Ubiquitous expression in placenta (RPKM 18.5), prostate (RPKM 14.8) and 25 other tissues See more Orthologs mouse all
MAFTRR, Official Symbol MAFTRRprovided by HGNC Official Full Name MAF transcriptional regulator RNAprovided by HGNC Primary source HGNC:HGNC:51525 See related Ensembl:ENSG00000261390 MIM:616264; AllianceGenome:HGNC:51525 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as lincMAF4; linc-MAF-4 Expression Broad expression in skin (RPKM 1.0), ovary (RPKM 0.9) and 18 other tissues See more
MAG, Official Symbol MAGprovided by HGNC Official Full Name myelin associated glycoproteinprovided by HGNC Primary source HGNC:HGNC:6783 See related Ensembl:ENSG00000105695 MIM:159460; AllianceGenome:HGNC:6783 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GMA; S-MAG; SPG75; SIGLEC4A; SIGLEC-4A Summary The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is thought to be involved in the process of myelination. It is a lectin that binds to sialylated glycoconjugates and mediates certain myelin-neuron cell-cell interactions. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2010] Expression Biased expression in brain (RPKM 53.6) and ovary (RPKM 16.9) See more Orthologs mouse all
MAGEA1, Official Symbol MAGEA1provided by HGNC Official Full Name MAGE family member A1provided by HGNC Primary source HGNC:HGNC:6796 See related Ensembl:ENSG00000198681 MIM:300016; AllianceGenome:HGNC:6796 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CT1.1; MAGE1 Summary This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 3.3) See more Orthologs all
MAGEA10, Official Symbol MAGEA10provided by HGNC Official Full Name MAGE family member A10provided by HGNC Primary source HGNC:HGNC:6797 See related Ensembl:ENSG00000124260 MIM:300343; AllianceGenome:HGNC:6797 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CT1.10; MAGE10 Summary This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream melanoma antigen family A, 5 (MAGEA5) gene.[provided by RefSeq, Oct 2011] Expression Biased expression in placenta (RPKM 4.9) and testis (RPKM 1.2) See more Orthologs mouse all