psui3905/ncbi_genes_summary huggingface dataset:
CNP, Official Symbol CNPprovided by HGNC Official Full Name 2',3'-cyclic nucleotide 3' phosphodiesteraseprovided by HGNC Primary source HGNC:HGNC:2158 See related Ensembl:ENSG00000173786 MIM:123830; AllianceGenome:HGNC:2158 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 CNP1; HLD20 Summary Predicted to enable 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity. Involved in substantia nigra development. Located in several cellular components, including extracellular space; microtubule; and plasma membrane. Implicated in hypomyelinating leukodystrophy 20; multiple sclerosis; and schizophrenia. Biomarker of alcoholic liver cirrhosis; multiple sclerosis; and restless legs syndrome. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: CNP (Gene ID: 1267) and NPPC (Gene ID: 4880) share the CNP symbol/alias in common. CNP is a widely used alternative name for C-type natriuretic peptide (NPPC), which can be confused with the official symbol for 2',3'-cyclic-nucleotide 3'-phosphodiesterase (CNP). [06 Jul 2018] Expression Broad expression in brain (RPKM 130.3), kidney (RPKM 16.0) and 18 other tissues See more Orthologs mouse all
CNPPD1, Official Symbol CNPPD1provided by HGNC Official Full Name cyclin Pas1/PHO80 domain containing 1provided by HGNC Primary source HGNC:HGNC:25220 See related Ensembl:ENSG00000115649 AllianceGenome:HGNC:25220 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 CGI-57; C2orf24 Summary Predicted to enable cyclin-dependent protein serine/threonine kinase regulator activity. Predicted to be involved in regulation of cyclin-dependent protein serine/threonine kinase activity. Predicted to be integral component of membrane. Predicted to be part of cyclin-dependent protein kinase holoenzyme complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 36.9), adrenal (RPKM 24.4) and 25 other tissues See more Orthologs mouse all
CNPY1, Official Symbol CNPY1provided by HGNC Official Full Name canopy FGF signaling regulator 1provided by HGNC Primary source HGNC:HGNC:27786 See related Ensembl:ENSG00000146910 MIM:612493; AllianceGenome:HGNC:27786 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 Cnpy1 is expressed in the midbrain-hindbrain (MHB) boundary in zebrafish, binds FGFR1 (MIM 136350), and plays a role in FGF signaling (Hirate and Okamoto, 2006 [PubMed 16488878]).[supplied by OMIM, Dec 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
CNPY2, Official Symbol CNPY2provided by HGNC Official Full Name canopy FGF signaling regulator 2provided by HGNC Primary source HGNC:HGNC:13529 See related Ensembl:ENSG00000257727 MIM:605861; AllianceGenome:HGNC:13529 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 MSAP; TMEM4; ZSIG9; HP10390 Summary Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 22.5), adrenal (RPKM 21.4) and 25 other tissues See more Orthologs mouse all
CNPY3, Official Symbol CNPY3provided by HGNC Official Full Name canopy FGF signaling regulator 3provided by HGNC Primary source HGNC:HGNC:11968 See related Ensembl:ENSG00000137161 MIM:610774; AllianceGenome:HGNC:11968 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 CAG4A; DEE60; ERDA5; TNRC5; EIEE60; PRAT4A Summary This gene encodes a protein that binds members of the toll-like receptor protein family and functions as a chaperone to aid in folding and export of these proteins. Alternative splicing results in multiple transcript variants. Naturally occuring readthrough transcription occurs between this locus and the downstream GNMT (glycine N-methyltransferase) gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in spleen (RPKM 21.7), bone marrow (RPKM 19.8) and 25 other tissues See more Orthologs mouse all
CNPY4, Official Symbol CNPY4provided by HGNC Official Full Name canopy FGF signaling regulator 4provided by HGNC Primary source HGNC:HGNC:28631 See related Ensembl:ENSG00000166997 MIM:610047; AllianceGenome:HGNC:28631 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 PRAT4B Summary Predicted to enable signaling receptor binding activity. Involved in positive regulation of protein localization to plasma membrane. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 13.2), ovary (RPKM 11.6) and 24 other tissues See more Orthologs mouse all
CNR1, Official Symbol CNR1provided by HGNC Official Full Name cannabinoid receptor 1provided by HGNC Primary source HGNC:HGNC:2159 See related Ensembl:ENSG00000118432 MIM:114610; AllianceGenome:HGNC:2159 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 CB1; CNR; CB-R; CB1A; CB1R; CANN6; CB1K5 Summary This gene encodes one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the guanine-nucleotide-binding protein (G-protein) coupled receptor family, which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two receptors have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. Multiple transcript variants encoding two different protein isoforms have been described for this gene. [provided by RefSeq, May 2009] Expression Biased expression in brain (RPKM 6.2), fat (RPKM 2.7) and 12 other tissues See more Orthologs mouse all
CNR2, Official Symbol CNR2provided by HGNC Official Full Name cannabinoid receptor 2provided by HGNC Primary source HGNC:HGNC:2160 See related Ensembl:ENSG00000188822 MIM:605051; AllianceGenome:HGNC:2160 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 CB2; CX5; CB-2 Summary The cannabinoid delta-9-tetrahydrocannabinol is the principal psychoactive ingredient of marijuana. The proteins encoded by this gene and the cannabinoid receptor 1 (brain) (CNR1) gene have the characteristics of a guanine nucleotide-binding protein (G-protein)-coupled receptor for cannabinoids. They inhibit adenylate cyclase activity in a dose-dependent, stereoselective, and pertussis toxin-sensitive manner. These proteins have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. The cannabinoid receptors are members of family 1 of the G-protein-coupled receptors. [provided by RefSeq, Jul 2008] Expression Biased expression in lymph node (RPKM 3.7), spleen (RPKM 3.4) and 4 other tissues See more Orthologs mouse all
CNRIP1, Official Symbol CNRIP1provided by HGNC Official Full Name cannabinoid receptor interacting protein 1provided by HGNC Primary source HGNC:HGNC:24546 See related Ensembl:ENSG00000119865 MIM:618538; AllianceGenome:HGNC:24546 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 CRIP1; CRIP-1; C2orf32 Summary This gene encodes a protein that interacts with the C-terminal tail of cannabinoid receptor 1. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013] Expression Broad expression in brain (RPKM 31.7), ovary (RPKM 14.7) and 21 other tissues See more Orthologs mouse all
CNST, Official Symbol CNSTprovided by HGNC Official Full Name consortin, connexin sorting proteinprovided by HGNC Primary source HGNC:HGNC:26486 See related Ensembl:ENSG00000162852 MIM:613439; AllianceGenome:HGNC:26486 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 C1orf71; PPP1R64 Summary Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010] Expression Ubiquitous expression in adrenal (RPKM 10.5), brain (RPKM 9.5) and 25 other tissues See more Orthologs mouse all
CNTD1, Official Symbol CNTD1provided by HGNC Official Full Name cyclin N-terminal domain containing 1provided by HGNC Primary source HGNC:HGNC:26847 See related Ensembl:ENSG00000176563 MIM:618166; AllianceGenome:HGNC:26847 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 CNTD; COSA1 Summary Predicted to be involved in reciprocal meiotic recombination. Predicted to act upstream of or within spermatogenesis. Predicted to be active in site of double-strand break. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 15.0), duodenum (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
CNTF, Official Symbol CNTFprovided by HGNC Official Full Name ciliary neurotrophic factorprovided by HGNC Primary source HGNC:HGNC:2169 See related Ensembl:ENSG00000242689 MIM:118945; AllianceGenome:HGNC:2169 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 HCNTF Summary The protein encoded by this gene is a polypeptide hormone whose actions appear to be restricted to the nervous system where it promotes neurotransmitter synthesis and neurite outgrowth in certain neuronal populations. The protein is a potent survival factor for neurons and oligodendrocytes and may be relevant in reducing tissue destruction during inflammatory attacks. A mutation in this gene, which results in aberrant splicing, leads to ciliary neurotrophic factor deficiency, but this phenotype is not causally related to neurologic disease. A read-through transcript variant composed of the upstream ZFP91 gene and CNTF sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. [provided by RefSeq, Oct 2010] Expression Broad expression in bone marrow (RPKM 2.5), testis (RPKM 0.8) and 20 other tissues See more Orthologs mouse all
CNTFR, Official Symbol CNTFRprovided by HGNC Official Full Name ciliary neurotrophic factor receptorprovided by HGNC Primary source HGNC:HGNC:2170 See related Ensembl:ENSG00000122756 MIM:118946; AllianceGenome:HGNC:2170 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 member of the type 1 cytokine receptor family. The encoded protein is the ligand-specific component of a tripartite receptor for ciliary neurotrophic factor, which plays a critical role in neuronal cell survival, differentiation and gene expression. Binding of ciliary neurotrophic factor to the encoded protein recruits the transmembrane components of the receptor, gp130 and leukemia inhibitory factor receptor, facilitating signal transduction. Single nucleotide polymorphisms in this gene may be associated with variations in muscle strength, as well as early onset of eating disorders. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011] Expression Biased expression in fat (RPKM 23.5), brain (RPKM 9.3) and 10 other tissues See more Orthologs mouse all
CNTFR-AS1, Official Symbol CNTFR-AS1provided by HGNC Official Full Name CNTFR antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48712 See related Ensembl:ENSG00000237159 AllianceGenome:HGNC:48712 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 Biased expression in testis (RPKM 2.9), fat (RPKM 0.7) and 1 other tissue See more
CNTLN, Official Symbol CNTLNprovided by HGNC Official Full Name centleinprovided by HGNC Primary source HGNC:HGNC:23432 See related Ensembl:ENSG00000044459 MIM:611870; AllianceGenome:HGNC:23432 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 C9orf39; C9orf101; bA340N12.1 Summary Enables protein domain specific binding activity; protein kinase binding activity; and protein-macromolecule adaptor activity. Involved in centriole-centriole cohesion and protein localization to organelle. Located in cytosol; microtubule organizing center; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 1.5), testis (RPKM 1.4) and 24 other tissues See more Orthologs mouse all
CNTN1, Official Symbol CNTN1provided by HGNC Official Full Name contactin 1provided by HGNC Primary source HGNC:HGNC:2171 See related Ensembl:ENSG00000018236 MIM:600016; AllianceGenome:HGNC:2171 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 F3; GP135; MYPCN; CMYP12 Summary The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Expression Biased expression in brain (RPKM 51.8), ovary (RPKM 13.6) and 10 other tissues See more Orthologs mouse all
CNTN2, Official Symbol CNTN2provided by HGNC Official Full Name contactin 2provided by HGNC Primary source HGNC:HGNC:2172 See related Ensembl:ENSG00000184144 MIM:190197; AllianceGenome:HGNC:2172 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 AXT; TAX; TAX1; FAME5; TAG-1 Summary This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016] Expression Biased expression in brain (RPKM 36.2) and testis (RPKM 4.9) See more Orthologs mouse all
CNTN3, Official Symbol CNTN3provided by HGNC Official Full Name contactin 3provided by HGNC Primary source HGNC:HGNC:2173 See related Ensembl:ENSG00000113805 MIM:601325; AllianceGenome:HGNC:2173 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 PCS; PANG; BIG-1 Summary Predicted to be involved in cell adhesion and nervous system development. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in neuron projection. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 2.7), prostate (RPKM 1.8) and 18 other tissues See more Orthologs mouse all
CNTN4, Official Symbol CNTN4provided by HGNC Official Full Name contactin 4provided by HGNC Primary source HGNC:HGNC:2174 See related Ensembl:ENSG00000144619 MIM:607280; AllianceGenome:HGNC:2174 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 AXCAM; BIG-2 Summary This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] Expression Broad expression in endometrium (RPKM 2.7), thyroid (RPKM 2.4) and 21 other tissues See more Orthologs all
CNTN4-AS2, Official Symbol CNTN4-AS2provided by HGNC Official Full Name CNTN4 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:39986 See related Ensembl:ENSG00000227588 AllianceGenome:HGNC:39986 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
CNTN5, Official Symbol CNTN5provided by HGNC Official Full Name contactin 5provided by HGNC Primary source HGNC:HGNC:2175 See related Ensembl:ENSG00000149972 MIM:607219; AllianceGenome:HGNC:2175 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 NB-2; HNB-2s Summary The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Expression Biased expression in placenta (RPKM 1.0), thyroid (RPKM 1.0) and 5 other tissues See more Orthologs mouse all
CNTN6, Official Symbol CNTN6provided by HGNC Official Full Name contactin 6provided by HGNC Primary source HGNC:HGNC:2176 See related Ensembl:ENSG00000134115 MIM:607220; AllianceGenome:HGNC:2176 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 NB3 Summary The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Biased expression in thyroid (RPKM 3.8), lung (RPKM 1.4) and 3 other tissues See more Orthologs mouse all
CNTNAP1, Official Symbol CNTNAP1provided by HGNC Official Full Name contactin associated protein 1provided by HGNC Primary source HGNC:HGNC:8011 See related Ensembl:ENSG00000108797 MIM:602346; AllianceGenome:HGNC:8011 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 CHN3; P190; CASPR; NRXN4; CNTNAP Summary The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009] Expression Broad expression in brain (RPKM 18.9), endometrium (RPKM 5.5) and 17 other tissues See more Orthologs mouse all
CNTNAP2, Official Symbol CNTNAP2provided by HGNC Official Full Name contactin associated protein 2provided by HGNC Primary source HGNC:HGNC:13830 See related Ensembl:ENSG00000174469 MIM:604569; AllianceGenome:HGNC:13830 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 CDFE; NRXN4; AUTS15; CASPR2; PTHSL1 Summary This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability. [provided by RefSeq, Jul 2017] Expression Biased expression in brain (RPKM 12.9), prostate (RPKM 4.1) and 7 other tissues See more Orthologs mouse all
CNTNAP2-AS1, Official Symbol CNTNAP2-AS1provided by HGNC Official Full Name CNTNAP2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40657 See related Ensembl:ENSG00000236795 AllianceGenome:HGNC:40657 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
CNTNAP3, Official Symbol CNTNAP3provided by HGNC Official Full Name contactin associated protein family member 3provided by HGNC Primary source HGNC:HGNC:13834 See related Ensembl:ENSG00000106714 MIM:610517; AllianceGenome:HGNC:13834 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 CASPR3; CNTNAP3A Summary The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Annotation information Annotation category: suggests misassembly Expression Broad expression in esophagus (RPKM 5.9), skin (RPKM 4.1) and 22 other tissues See more Orthologs all
CNTNAP3B, Official Symbol CNTNAP3Bprovided by HGNC Official Full Name contactin associated protein family member 3Bprovided by HGNC Primary source HGNC:HGNC:32035 See related Ensembl:ENSG00000154529 AllianceGenome:HGNC:32035 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 cell adhesion. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 5.1), fat (RPKM 3.4) and 22 other tissues See more
CNTNAP3C, Official Symbol CNTNAP3Cprovided by HGNC Official Full Name contactin associated protein family member 3Cprovided by HGNC Primary source HGNC:HGNC:53878 See related Ensembl:ENSG00000283378 AllianceGenome:HGNC:53878 Gene type protein coding RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: GeneID: 100289279 originally represented an ATPase synthase pseudogene, but was misplaced for build 38.1 and now represents a CNTNAP3-related sequence. This gene may be partial in the build 38.1 reference assembly and may or may not encode a protein. [25 Mar 2014] Annotation category: suggests misassembly Expression Broad expression in bone marrow (RPKM 2.3), esophagus (RPKM 1.9) and 22 other tissues See more Orthologs all
CNTNAP4, Official Symbol CNTNAP4provided by HGNC Official Full Name contactin associated protein family member 4provided by HGNC Primary source HGNC:HGNC:18747 See related Ensembl:ENSG00000152910 MIM:610518; AllianceGenome:HGNC:18747 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 CASPR4 Summary This gene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. This protein may also play a role in proper neurotransmission in the dopaminergic and GABAergic systems and mutations in this gene may be associated with certain psychiatric illnesses. A polymorphism in an intron of this gene may be associated with longevity. [provided by RefSeq, Apr 2016] Expression Biased expression in brain (RPKM 7.4) and adrenal (RPKM 0.3) See more Orthologs mouse all
CNTNAP5, Official Symbol CNTNAP5provided by HGNC Official Full Name contactin associated protein family member 5provided by HGNC Primary source HGNC:HGNC:18748 See related Ensembl:ENSG00000155052 MIM:610519; AllianceGenome:HGNC:18748 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 caspr5 Summary This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 3.7), gall bladder (RPKM 0.7) and 1 other tissue See more Orthologs mouse all
CNTRL, Official Symbol CNTRLprovided by HGNC Official Full Name centriolinprovided by HGNC Primary source HGNC:HGNC:1858 See related Ensembl:ENSG00000119397 MIM:605496; AllianceGenome:HGNC:1858 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 FAN; CEP1; CEP110; bA165P4.1 Summary This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 22.4), lymph node (RPKM 12.1) and 21 other tissues See more Orthologs mouse all
CNTROB, Official Symbol CNTROBprovided by HGNC Official Full Name centrobin, centriole duplication and spindle assembly proteinprovided by HGNC Primary source HGNC:HGNC:29616 See related Ensembl:ENSG00000170037 MIM:611425; AllianceGenome:HGNC:29616 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 LIP8; PP1221 Summary This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Expression Broad expression in testis (RPKM 22.1), endometrium (RPKM 9.7) and 24 other tissues See more Orthologs mouse all
COA1, Official Symbol COA1provided by HGNC Official Full Name cytochrome c oxidase assembly factor 1provided by HGNC Primary source HGNC:HGNC:21868 See related Ensembl:ENSG00000106603 MIM:614769; AllianceGenome:HGNC:21868 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 C7orf44; MITRAC15 Summary Involved in mitochondrial cytochrome c oxidase assembly and mitochondrial respiratory chain complex I assembly. Located in cytosol and mitochondrion. Is integral component of mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 6.8), appendix (RPKM 4.6) and 25 other tissues See more Orthologs all
COA3, Official Symbol COA3provided by HGNC Official Full Name cytochrome c oxidase assembly factor 3provided by HGNC Primary source HGNC:HGNC:24990 See related Ensembl:ENSG00000183978 MIM:614775; AllianceGenome:HGNC:24990 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 COX25; hCOA3; CCDC56; HSPC009; MC4DN14; MITRAC12 Summary This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in kidney (RPKM 59.3), duodenum (RPKM 48.8) and 25 other tissues See more Orthologs mouse all
COA4, Official Symbol COA4provided by HGNC Official Full Name cytochrome c oxidase assembly factor 4 homologprovided by HGNC Primary source HGNC:HGNC:24604 See related Ensembl:ENSG00000181924 MIM:608016; AllianceGenome:HGNC:24604 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 CMC3; E2IG2; CHCHD8 Summary Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 9.0), thyroid (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
COA5, Official Symbol COA5provided by HGNC Official Full Name cytochrome c oxidase assembly factor 5provided by HGNC Primary source HGNC:HGNC:33848 See related Ensembl:ENSG00000183513 MIM:613920; AllianceGenome:HGNC:33848 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 MC4DN9; Pet191; C2orf64; CEMCOX3; 6330578E17Rik Summary This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in brain (RPKM 12.5), kidney (RPKM 12.0) and 25 other tissues See more Orthologs mouse all
COA6, Official Symbol COA6provided by HGNC Official Full Name cytochrome c oxidase assembly factor 6provided by HGNC Primary source HGNC:HGNC:18025 See related Ensembl:ENSG00000168275 MIM:614772; AllianceGenome:HGNC:18025 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 C1orf31; CEMCOX4; MC4DN13 Summary This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] Expression Ubiquitous expression in duodenum (RPKM 9.1), colon (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
COA6-AS1, Official Symbol COA6-AS1provided by HGNC Official Full Name COA6 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40825 See related Ensembl:ENSG00000231663 AllianceGenome:HGNC:40825 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 Ubiquitous expression in colon (RPKM 1.9), kidney (RPKM 1.9) and 25 other tissues See more
COA7, Official Symbol COA7provided by HGNC Official Full Name cytochrome c oxidase assembly factor 7provided by HGNC Primary source HGNC:HGNC:25716 See related Ensembl:ENSG00000162377 MIM:615623; AllianceGenome:HGNC:25716 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 RESA1; SCAN3; SELRC1; C1orf163 Summary Located in mitochondrial intermembrane space and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 6.1), colon (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
COA8, Official Symbol COA8provided by HGNC Official Full Name cytochrome c oxidase assembly factor 8provided by HGNC Primary source HGNC:HGNC:20492 See related Ensembl:ENSG00000256053 MIM:616003; AllianceGenome:HGNC:20492 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 APOP; APOP1; APOPT1; MC4DN17; C14orf153 Summary This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Expression Ubiquitous expression in testis (RPKM 10.4), fat (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
COASY, Official Symbol COASYprovided by HGNC Official Full Name Coenzyme A synthaseprovided by HGNC Primary source HGNC:HGNC:29932 See related Ensembl:ENSG00000068120 MIM:609855; AllianceGenome:HGNC:29932 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 NBP; DPCK; PPAT; UKR1; NBIA6; PCH12; pOV-2 Summary Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane trafficking and signal transduction. This gene encodes the bifunctional protein coenzyme A synthase (CoAsy) which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this bifunctional protein catalyzes the conversion of 4'-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its dephospho-CoA kinase domain completes the final step by phosphorylating dpCoA to form CoA. Mutations in this gene are associated with neurodegeneration with brain iron accumulation (NBIA). Alternative splicing results in multiple isoforms. [provided by RefSeq, Apr 2014] Expression Ubiquitous expression in kidney (RPKM 20.2), duodenum (RPKM 19.7) and 25 other tissues See more Orthologs mouse all
COBL, Official Symbol COBLprovided by HGNC Official Full Name cordon-bleu WH2 repeat proteinprovided by HGNC Primary source HGNC:HGNC:22199 See related Ensembl:ENSG00000106078 MIM:610317; AllianceGenome:HGNC:22199 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 WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X. [provided by RefSeq, Oct 2016] Expression Broad expression in brain (RPKM 13.9), heart (RPKM 7.3) and 18 other tissues See more Orthologs mouse all
COBLL1, Official Symbol COBLL1provided by HGNC Official Full Name cordon-bleu WH2 repeat protein like 1provided by HGNC Primary source HGNC:HGNC:23571 See related Ensembl:ENSG00000082438 MIM:610318; AllianceGenome:HGNC:23571 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 COBLR1 Summary Enables cadherin binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 18.9), adrenal (RPKM 17.7) and 23 other tissues See more Orthologs mouse all
COBLP1, Official Symbol COBLP1provided by HGNC Official Full Name COBL pseudogene 1provided by HGNC Primary source HGNC:HGNC:55060 See related Ensembl:ENSG00000231270 AllianceGenome:HGNC:55060 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COCH, Official Symbol COCHprovided by HGNC Official Full Name cochlinprovided by HGNC Primary source HGNC:HGNC:2180 See related Ensembl:ENSG00000100473 MIM:603196; AllianceGenome:HGNC:2180 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 DFNA9; COCH5B2; DFNB110; COCH-5B2 Summary The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008] Expression Biased expression in pancreas (RPKM 45.5), prostate (RPKM 16.0) and 1 other tissue See more Orthologs mouse all
COG1, Official Symbol COG1provided by HGNC Official Full Name component of oligomeric golgi complex 1provided by HGNC Primary source HGNC:HGNC:6545 See related Ensembl:ENSG00000166685 MIM:606973; AllianceGenome:HGNC:6545 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 LDLB; CDG2G Summary The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 16.2), testis (RPKM 14.0) and 25 other tissues See more Orthologs mouse all
COG2, Official Symbol COG2provided by HGNC Official Full Name component of oligomeric golgi complex 2provided by HGNC Primary source HGNC:HGNC:6546 See related Ensembl:ENSG00000135775 MIM:606974; AllianceGenome:HGNC:6546 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 LDLC; CDG2Q Summary This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] Expression Ubiquitous expression in adrenal (RPKM 11.3), colon (RPKM 11.0) and 25 other tissues See more Orthologs mouse all
COG3, Official Symbol COG3provided by HGNC Official Full Name component of oligomeric golgi complex 3provided by HGNC Primary source HGNC:HGNC:18619 See related Ensembl:ENSG00000136152 MIM:606975; AllianceGenome:HGNC:18619 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 SEC34 Summary This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011] Expression Ubiquitous expression in thyroid (RPKM 12.6), prostate (RPKM 12.2) and 25 other tissues See more Orthologs mouse all