psui3905/ncbi_genes_summary huggingface dataset:
CBFA2T2, Official Symbol CBFA2T2provided by HGNC Official Full Name CBFA2/RUNX1 partner transcriptional co-repressor 2provided by HGNC Primary source HGNC:HGNC:1536 See related Ensembl:ENSG00000078699 MIM:603672; AllianceGenome:HGNC:1536 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 EHT; p85; MTGR1; ZMYND3 Summary In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 6.7), testis (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
CBFA2T3, Official Symbol CBFA2T3provided by HGNC Official Full Name CBFA2/RUNX1 partner transcriptional co-repressor 3provided by HGNC Primary source HGNC:HGNC:1537 See related Ensembl:ENSG00000129993 MIM:603870; AllianceGenome:HGNC:1537 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 ETO2; MTG16; MTGR2; ZMYND4; RUNX1T3 Summary This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] Expression Broad expression in spleen (RPKM 6.2), lymph node (RPKM 3.7) and 24 other tissues See more Orthologs mouse all
CBFB, Official Symbol CBFBprovided by HGNC Official Full Name core-binding factor subunit betaprovided by HGNC Primary source HGNC:HGNC:1539 See related Ensembl:ENSG00000067955 MIM:121360; AllianceGenome:HGNC:1539 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 CLCD2; PEBP2B Summary The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 12.7), appendix (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
CBL, Official Symbol CBLprovided by HGNC Official Full Name Cbl proto-oncogeneprovided by HGNC Primary source HGNC:HGNC:1541 See related Ensembl:ENSG00000110395 MIM:165360; AllianceGenome:HGNC:1541 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 CBL2; NSLL; C-CBL; RNF55; FRA11B Summary This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016] Expression Broad expression in testis (RPKM 12.3), lymph node (RPKM 6.0) and 23 other tissues See more Orthologs mouse all
CBLB, Official Symbol CBLBprovided by HGNC Official Full Name Cbl proto-oncogene Bprovided by HGNC Primary source HGNC:HGNC:1542 See related Ensembl:ENSG00000114423 MIM:604491; AllianceGenome:HGNC:1542 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 Cbl-b; RNF56; ADMIO3; Nbla00127 Summary This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded protein is involved in the regulation of immune response by limiting T-cell receptor, B-cell receptor, and high affinity immunoglobulin epsilon receptor activation. Studies in mouse suggest that this gene is involved in antifungal host defense and that its inhibition leads to increased fungal killing. Manipulation of this gene may be beneficial in implementing immunotherapies for a variety of conditions, including cancer, autoimmune diseases, allergies, and infections. [provided by RefSeq, Sep 2017] Expression Ubiquitous expression in lymph node (RPKM 6.7), gall bladder (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
CBLC, Official Symbol CBLCprovided by HGNC Official Full Name Cbl proto-oncogene Cprovided by HGNC Primary source HGNC:HGNC:15961 See related Ensembl:ENSG00000142273 MIM:608453; AllianceGenome:HGNC:15961 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 CBL-3; RNF57; CBL-SL Summary This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] Expression Biased expression in duodenum (RPKM 19.1), small intestine (RPKM 14.9) and 11 other tissues See more Orthologs mouse all
CBLIF, Official Symbol CBLIFprovided by HGNC Official Full Name cobalamin binding intrinsic factorprovided by HGNC Primary source HGNC:HGNC:4268 See related Ensembl:ENSG00000134812 MIM:609342; AllianceGenome:HGNC:4268 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 IF; GIF; INF; IFMH; TCN3 Summary This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008] Annotation information Note: GIF (Gene ID: 2694) and MT3 (Gene ID: 4504) share the GIF symbol/alias in common. GIF is a widely used alternative name for metallothionein 3 (MT3), which can be confused with the official symbol for GIF (gastric intrinsic factor, GeneID 2694). [01 Jun 2018] Expression Restricted expression toward stomach (RPKM 444.5) See more Orthologs all
CBLL1, Official Symbol CBLL1provided by HGNC Official Full Name Cbl proto-oncogene like 1provided by HGNC Primary source HGNC:HGNC:21225 See related Ensembl:ENSG00000105879 MIM:606872; AllianceGenome:HGNC:21225 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 HAKAI; RNF188 Summary This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in colon (RPKM 9.2), testis (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
CBLL2, Official Symbol CBLL2provided by HGNC Official Full Name Cbl proto-oncogene like 2provided by HGNC Primary source HGNC:HGNC:26371 See related Ensembl:ENSG00000175809 AllianceGenome:HGNC:26371 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 CT138; HAKAIL; ZNF645 Summary This gene encodes a member of the zinc finger domain-containing protein family. This family member contains both a RING-type and a C2H2-type of zinc finger domain, and it may function as an E3 ubiquitin-protein ligase. Protein localization suggests a role in human sperm production and quality control. [provided by RefSeq, Aug 2011] Orthologs all
CBLN1, Official Symbol CBLN1provided by HGNC Official Full Name cerebellin 1 precursorprovided by HGNC Primary source HGNC:HGNC:1543 See related Ensembl:ENSG00000102924 MIM:600432; AllianceGenome:HGNC:1543 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 This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008] Expression Biased expression in fat (RPKM 8.8), testis (RPKM 8.3) and 9 other tissues See more Orthologs mouse all
CBLN2, Official Symbol CBLN2provided by HGNC Official Full Name cerebellin 2 precursorprovided by HGNC Primary source HGNC:HGNC:1544 See related Ensembl:ENSG00000141668 MIM:600433; AllianceGenome:HGNC:1544 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 be involved in maintenance of synapse structure and spontaneous synaptic transmission. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in extracellular space. Predicted to be active in glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 6.0), small intestine (RPKM 0.7) and 3 other tissues See more Orthologs mouse all
CBLN3, Official Symbol CBLN3provided by HGNC Official Full Name cerebellin 3 precursorprovided by HGNC Primary source HGNC:HGNC:20146 See related Ensembl:ENSG00000139899 MIM:612978; AllianceGenome:HGNC:20146 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 PRO1486 Summary Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. However, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM, Aug 2009] Expression Broad expression in spleen (RPKM 5.3), lymph node (RPKM 4.6) and 23 other tissues See more Orthologs mouse all
CBLN4, Official Symbol CBLN4provided by HGNC Official Full Name cerebellin 4 precursorprovided by HGNC Primary source HGNC:HGNC:16231 See related Ensembl:ENSG00000054803 MIM:615029; AllianceGenome:HGNC:16231 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 CBLNL1 Summary This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 2012] Expression Biased expression in adrenal (RPKM 11.4), brain (RPKM 6.3) and 3 other tissues See more Orthologs mouse all
CBR1, Official Symbol CBR1provided by HGNC Official Full Name carbonyl reductase 1provided by HGNC Primary source HGNC:HGNC:1548 See related Ensembl:ENSG00000159228 MIM:114830; AllianceGenome:HGNC:1548 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 CBR; hCBR1; PG-9-KR; SDR21C1 Summary The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013] Expression Broad expression in duodenum (RPKM 163.2), small intestine (RPKM 98.7) and 19 other tissues See more Orthologs mouse all
CBR3, Official Symbol CBR3provided by HGNC Official Full Name carbonyl reductase 3provided by HGNC Primary source HGNC:HGNC:1549 See related Ensembl:ENSG00000159231 MIM:603608; AllianceGenome:HGNC:1549 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 hCBR3; SDR21C2; HEL-S-25 Summary Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols. The enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in esophagus (RPKM 6.1), skin (RPKM 5.7) and 22 other tissues See more Orthologs mouse all
CBR3-AS1, Official Symbol CBR3-AS1provided by HGNC Official Full Name CBR3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:43664 See related Ensembl:ENSG00000236830 AllianceGenome:HGNC:43664 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 PlncRNA1; PlncRNA-1 Expression Ubiquitous expression in prostate (RPKM 4.6), salivary gland (RPKM 3.1) and 25 other tissues See more
CBR4, Official Symbol CBR4provided by HGNC Official Full Name carbonyl reductase 4provided by HGNC Primary source HGNC:HGNC:25891 See related Ensembl:ENSG00000145439 MIM:619394; AllianceGenome:HGNC:25891 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 SDR45C1 Summary Enables several functions, including 3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity; NADPH binding activity; and NADPH dehydrogenase (quinone) activity. Involved in fatty acid biosynthetic process; glycoside metabolic process; and protein tetramerization. Located in mitochondrial matrix. Part of oxidoreductase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lung (RPKM 23.4), fat (RPKM 17.8) and 25 other tissues See more Orthologs mouse all
CBS, Official Symbol CBSprovided by HGNC Official Full Name cystathionine beta-synthaseprovided by HGNC Primary source HGNC:HGNC:1550 See related Ensembl:ENSG00000160200 MIM:613381; AllianceGenome:HGNC:1550 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 CBSL; HIP4 Summary The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016] Expression Biased expression in liver (RPKM 30.2), brain (RPKM 11.6) and 6 other tissues See more Orthologs mouse all
CBX1, Official Symbol CBX1provided by HGNC Official Full Name chromobox 1provided by HGNC Primary source HGNC:HGNC:1551 See related Ensembl:ENSG00000108468 MIM:604511; AllianceGenome:HGNC:1551 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 CBX; M31; MOD1; Hp1beta; p25beta; HP1-BETA; HP1Hsbeta; HP1Hs-beta Summary This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 37.6), brain (RPKM 33.7) and 24 other tissues See more Orthologs mouse all
CBX2, Official Symbol CBX2provided by HGNC Official Full Name chromobox 2provided by HGNC Primary source HGNC:HGNC:1552 See related Ensembl:ENSG00000173894 MIM:602770; AllianceGenome:HGNC:1552 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 M33; CDCA6; SRXY5 Summary This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010] Expression Biased expression in testis (RPKM 5.1), placenta (RPKM 1.0) and 13 other tissues See more Orthologs mouse all
CBX3, Official Symbol CBX3provided by HGNC Official Full Name chromobox 3provided by HGNC Primary source HGNC:HGNC:1553 See related Ensembl:ENSG00000122565 MIM:604477; AllianceGenome:HGNC:1553 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 HECH; HP1gamma; HP1-GAMMA; HP1Hs-gamma Summary At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane protein found in the inner nuclear membrane. The dual binding functions of the encoded protein may explain the association of heterochromatin with the inner nuclear membrane. This protein binds histone H3 tails methylated at Lys-9 sites. This protein is also recruited to sites of ultraviolet-induced DNA damage and double-strand breaks. Two transcript variants encoding the same protein but differing in the 5' UTR, have been found for this gene.[provided by RefSeq, Mar 2011] Expression Ubiquitous expression in lymph node (RPKM 47.3), testis (RPKM 43.1) and 25 other tissues See more Orthologs mouse all
CBX3P2, Official Symbol CBX3P2provided by HGNC Official Full Name CBX3 pseudogene 2provided by HGNC Primary source HGNC:HGNC:42874 See related Ensembl:ENSG00000266405 AllianceGenome:HGNC:42874 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in endometrium (RPKM 1.4), ovary (RPKM 1.3) and 23 other tissues See more
CBX3P6, Official Symbol CBX3P6provided by HGNC Official Full Name CBX3 pseudogene 6provided by HGNC Primary source HGNC:HGNC:42878 See related AllianceGenome:HGNC:42878 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CBX3P8, Official Symbol CBX3P8provided by HGNC Official Full Name CBX3 pseudogene 8provided by HGNC Primary source HGNC:HGNC:42880 See related AllianceGenome:HGNC:42880 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CBX4, Official Symbol CBX4provided by HGNC Official Full Name chromobox 4provided by HGNC Primary source HGNC:HGNC:1554 See related Ensembl:ENSG00000141582 MIM:603079; AllianceGenome:HGNC:1554 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 PC2; NBP16 Summary Enables SUMO binding activity; SUMO ligase activity; and enzyme binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nuclear body. Part of PRC1 complex. Implicated in hepatocellular carcinoma. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 17.4), spleen (RPKM 5.9) and 24 other tissues See more Orthologs mouse all
CBX5, Official Symbol CBX5provided by HGNC Official Full Name chromobox 5provided by HGNC Primary source HGNC:HGNC:1555 See related Ensembl:ENSG00000094916 MIM:604478; AllianceGenome:HGNC:1555 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 HP1; HP1A; HEL25; HP1alpha Summary This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 15.3), thyroid (RPKM 14.2) and 25 other tissues See more Orthologs mouse all
CBX6, Official Symbol CBX6provided by HGNC Official Full Name chromobox 6provided by HGNC Primary source HGNC:HGNC:1556 See related Ensembl:ENSG00000183741 MIM:617438; AllianceGenome:HGNC:1556 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 single-stranded RNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleus. Part of PcG protein complex. Biomarker of glioblastoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 28.2), ovary (RPKM 14.0) and 24 other tissues See more Orthologs mouse all
CBX7, Official Symbol CBX7provided by HGNC Official Full Name chromobox 7provided by HGNC Primary source HGNC:HGNC:1557 See related Ensembl:ENSG00000100307 MIM:608457; AllianceGenome:HGNC:1557 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 contains the CHROMO (CHRomatin Organization MOdifier) domain. The encoded protein is a component of the Polycomb repressive complex 1 (PRC1), and is thought to control the lifespan of several normal human cells. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in ovary (RPKM 27.3), endometrium (RPKM 25.8) and 25 other tissues See more Orthologs mouse all
CBX8, Official Symbol CBX8provided by HGNC Official Full Name chromobox 8provided by HGNC Primary source HGNC:HGNC:15962 See related Ensembl:ENSG00000141570 MIM:617354; AllianceGenome:HGNC:15962 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 PC3; RC1 Summary Enables methylated histone binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in chromatin and nucleoplasm. Part of PRC1 complex. Biomarker of esophagus squamous cell carcinoma and glioblastoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 4.1), placenta (RPKM 2.1) and 25 other tissues See more Orthologs mouse all
CBY1, Official Symbol CBY1provided by HGNC Official Full Name chibby 1, beta catenin antagonistprovided by HGNC Primary source HGNC:HGNC:1307 See related Ensembl:ENSG00000100211 MIM:607757; AllianceGenome:HGNC:1307 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 CBY; arb1; PGEA1; C22orf2; Chibby1; PIGEA14; PIGEA-14; HS508I15A Summary Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcriptional activation by competing with transcription factors for binding to beta-catenin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 16.6), adrenal (RPKM 16.3) and 25 other tissues See more Orthologs mouse all
CBY1P1, Official Symbol CBY1P1provided by HGNC Official Full Name CBY1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54769 See related Ensembl:ENSG00000236832 AllianceGenome:HGNC:54769 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CBY2, Official Symbol CBY2provided by HGNC Official Full Name chibby family member 2provided by HGNC Primary source HGNC:HGNC:30720 See related Ensembl:ENSG00000174015 MIM:618614; AllianceGenome:HGNC:30720 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 NURIT; SPERT Summary Enables identical protein binding activity. Predicted to be located in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 11.6) See more Orthologs mouse all
CBY3, Official Symbol CBY3provided by HGNC Official Full Name chibby family member 3provided by HGNC Primary source HGNC:HGNC:33278 See related Ensembl:ENSG00000204659 AllianceGenome:HGNC:33278 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 Expression Broad expression in testis (RPKM 1.5), spleen (RPKM 0.4) and 18 other tissues See more Orthologs mouse all
CC2D1A, Official Symbol CC2D1Aprovided by HGNC Official Full Name coiled-coil and C2 domain containing 1Aprovided by HGNC Primary source HGNC:HGNC:30237 See related Ensembl:ENSG00000132024 MIM:610055; AllianceGenome:HGNC:30237 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 Lgd2; MRT3; TAPE; Aki-1; FREUD-1; Freud-1/Aki1 Summary This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in a nonsyndromic form of cognitive disability (MRT3). [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in duodenum (RPKM 16.8), small intestine (RPKM 12.5) and 25 other tissues See more Orthologs mouse all
CC2D1B, Official Symbol CC2D1Bprovided by HGNC Official Full Name coiled-coil and C2 domain containing 1Bprovided by HGNC Primary source HGNC:HGNC:29386 See related Ensembl:ENSG00000154222 AllianceGenome:HGNC:29386 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 Lgd1 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 5.5), lung (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
CC2D2A, Official Symbol CC2D2Aprovided by HGNC Official Full Name coiled-coil and C2 domain containing 2Aprovided by HGNC Primary source HGNC:HGNC:29253 See related Ensembl:ENSG00000048342 MIM:612013; AllianceGenome:HGNC:29253 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 MKS6; RP93; JBTS9; COACH2 Summary This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] Expression Ubiquitous expression in kidney (RPKM 3.7), endometrium (RPKM 3.2) and 23 other tissues See more Orthologs mouse all
CC2D2B, Official Symbol CC2D2Bprovided by HGNC Official Full Name coiled-coil and C2 domain containing 2Bprovided by HGNC Primary source HGNC:HGNC:31666 See related Ensembl:ENSG00000188649 AllianceGenome:HGNC:31666 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 C10orf130; C10orf131 Summary Predicted to be involved in non-motile cilium assembly and protein localization to ciliary transition zone. Predicted to be active in ciliary transition zone. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.9), endometrium (RPKM 0.3) and 7 other tissues See more Orthologs mouse all
CCAR1, Official Symbol CCAR1provided by HGNC Official Full Name cell division cycle and apoptosis regulator 1provided by HGNC Primary source HGNC:HGNC:24236 See related Ensembl:ENSG00000060339 MIM:612569; AllianceGenome:HGNC:24236 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 Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; nuclear receptor coactivator activity; and transcription corepressor activity. Involved in positive regulation of cell migration and positive regulation of cell population proliferation. Acts upstream of or within positive regulation of apoptotic process. Located in nuclear envelope lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 17.5), appendix (RPKM 15.2) and 25 other tissues See more Orthologs mouse all
CCAR2, Official Symbol CCAR2provided by HGNC Official Full Name cell cycle and apoptosis regulator 2provided by HGNC Primary source HGNC:HGNC:23360 See related Ensembl:ENSG00000158941 MIM:607359; AllianceGenome:HGNC:23360 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 DBC1; DBC-1; NET35; p30DBC; p30 DBC; KIAA1967 Summary Enables RNA polymerase II complex binding activity and enzyme inhibitor activity. Involved in several processes, including regulation of cellular protein metabolic process; regulation of signal transduction; and regulation of transcription, DNA-templated. Located in several cellular components, including mitochondrial matrix; nucleoplasm; and spindle. Part of DBIRD complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 30.7), brain (RPKM 20.0) and 25 other tissues See more Orthologs mouse all
CCAT2, Official Symbol CCAT2provided by HGNC Official Full Name colon cancer associated transcript 2provided by HGNC Primary source HGNC:HGNC:47044 See related Ensembl:ENSG00000280997 MIM:619403; AllianceGenome:HGNC:47044 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NCCP1; LINC00873 Summary This gene produces a long non-coding RNA that is upregulated in colon cancer and other cancers. This transcript promotes cell proliferation and suppresses apoptosis. It negatively regulates the biogenesis of microRNA 145. [provided by RefSeq, Dec 2017]
CCBE1, Official Symbol CCBE1provided by HGNC Official Full Name collagen and calcium binding EGF domains 1provided by HGNC Primary source HGNC:HGNC:29426 See related Ensembl:ENSG00000183287 MIM:612753; AllianceGenome:HGNC:29426 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 HKLLS1 Summary This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010] Expression Biased expression in ovary (RPKM 14.7), lung (RPKM 5.5) and 8 other tissues See more Orthologs mouse all
CCDC102A, Official Symbol CCDC102Aprovided by HGNC Official Full Name coiled-coil domain containing 102Aprovided by HGNC Primary source HGNC:HGNC:28097 See related Ensembl:ENSG00000135736 AllianceGenome:HGNC:28097 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 be part of myosin complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 2.8), endometrium (RPKM 2.6) and 25 other tissues See more Orthologs mouse all
CCDC102B, Official Symbol CCDC102Bprovided by HGNC Official Full Name coiled-coil domain containing 102Bprovided by HGNC Primary source HGNC:HGNC:26295 See related Ensembl:ENSG00000150636 AllianceGenome:HGNC:26295 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 AN; ACY1L; HsT1731; C18orf14 Expression Broad expression in placenta (RPKM 1.5), lung (RPKM 1.1) and 20 other tissues See more Orthologs all
CCDC103, Official Symbol CCDC103provided by HGNC Official Full Name coiled-coil domain containing 103provided by HGNC Primary source HGNC:HGNC:32700 See related Ensembl:ENSG00000167131 MIM:614677; AllianceGenome:HGNC:32700 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 SMH; PR46b; CILD17 Summary Enables protein homodimerization activity. Involved in axonemal dynein complex assembly; cilium movement; and determination of left/right symmetry. Predicted to be located in axoneme. Predicted to be part of outer dynein arm. Implicated in primary ciliary dyskinesia 17. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 12.6), brain (RPKM 2.7) and 7 other tissues See more Orthologs mouse all
CCDC106, Official Symbol CCDC106provided by HGNC Official Full Name coiled-coil domain containing 106provided by HGNC Primary source HGNC:HGNC:30181 See related Ensembl:ENSG00000173581 MIM:613478; AllianceGenome:HGNC:30181 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 ZNF581; HSU79303 Summary Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 7.5), brain (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
CCDC107, Official Symbol CCDC107provided by HGNC Official Full Name coiled-coil domain containing 107provided by HGNC Primary source HGNC:HGNC:28465 See related Ensembl:ENSG00000159884 AllianceGenome:HGNC:28465 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 PSEC0222 Summary This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] Expression Ubiquitous expression in fat (RPKM 29.1), adrenal (RPKM 11.8) and 25 other tissues See more Orthologs mouse all
CCDC110, Official Symbol CCDC110provided by HGNC Official Full Name coiled-coil domain containing 110provided by HGNC Primary source HGNC:HGNC:28504 See related Ensembl:ENSG00000168491 MIM:609488; AllianceGenome:HGNC:28504 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 CT52; KMHN1; KM-HN-1 Summary Predicted to be located in nucleus. Predicted to be active in cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 45.3) See more Orthologs mouse all
CCDC112, Official Symbol CCDC112provided by HGNC Official Full Name coiled-coil domain containing 112provided by HGNC Primary source HGNC:HGNC:28599 See related Ensembl:ENSG00000164221 AllianceGenome:HGNC:28599 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 MBC1 Expression Broad expression in testis (RPKM 14.0), brain (RPKM 2.9) and 22 other tissues See more Orthologs mouse all
CCDC113, Official Symbol CCDC113provided by HGNC Official Full Name coiled-coil domain containing 113provided by HGNC Primary source HGNC:HGNC:25002 See related Ensembl:ENSG00000103021 MIM:616070; AllianceGenome:HGNC:25002 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 HSPC065 Summary Involved in cilium assembly. Located in centriolar satellite and ciliary basal body. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 6.0), brain (RPKM 3.3) and 16 other tissues See more Orthologs mouse all
CCDC115, Official Symbol CCDC115provided by HGNC Official Full Name coiled-coil domain containing 115provided by HGNC Primary source HGNC:HGNC:28178 See related Ensembl:ENSG00000136710 MIM:613734; AllianceGenome:HGNC:28178 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 ccp1; CDG2O Summary The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in ovary (RPKM 17.0), thyroid (RPKM 15.4) and 25 other tissues See more Orthologs mouse all
CCDC116, Official Symbol CCDC116provided by HGNC Official Full Name coiled-coil domain containing 116provided by HGNC Primary source HGNC:HGNC:26688 See related Ensembl:ENSG00000161180 AllianceGenome:HGNC:26688 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 Located in centrosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 8.7) See more Orthologs mouse all
CCDC117, Official Symbol CCDC117provided by HGNC Official Full Name coiled-coil domain containing 117provided by HGNC Primary source HGNC:HGNC:26599 See related Ensembl:ENSG00000159873 AllianceGenome:HGNC:26599 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 dJ366L4.1 Expression Broad expression in testis (RPKM 25.5), placenta (RPKM 10.2) and 24 other tissues See more Orthologs mouse all