psui3905/ncbi_genes_summary huggingface dataset:
GHDC, Official Symbol GHDCprovided by HGNC Official Full Name GH3 domain containingprovided by HGNC Primary source HGNC:HGNC:24438 See related Ensembl:ENSG00000167925 MIM:608587; AllianceGenome:HGNC:24438 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 LGP1; D11LGP1 Summary Predicted to enable acid-amino acid ligase activity. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 16.7), spleen (RPKM 13.2) and 25 other tissues See more Orthologs mouse all
GHITM, Official Symbol GHITMprovided by HGNC Official Full Name growth hormone inducible transmembrane proteinprovided by HGNC Primary source HGNC:HGNC:17281 See related Ensembl:ENSG00000165678 MIM:619205; AllianceGenome:HGNC:17281 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 DERP2; MICS1; My021; PTD010; TMBIM5; HSPC282 Summary Involved in inner mitochondrial membrane organization and negative regulation of release of cytochrome c from mitochondria. Located in mitochondrion. Is integral component of mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 139.5), kidney (RPKM 133.1) and 25 other tissues See more Orthologs mouse all
GHR, Official Symbol GHRprovided by HGNC Official Full Name growth hormone receptorprovided by HGNC Primary source HGNC:HGNC:4263 See related Ensembl:ENSG00000112964 MIM:600946; AllianceGenome:HGNC:4263 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 GHBP; GHIP Summary This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011] Expression Biased expression in fat (RPKM 43.6), liver (RPKM 35.0) and 7 other tissues See more Orthologs mouse all
GHRH, Official Symbol GHRHprovided by HGNC Official Full Name growth hormone releasing hormoneprovided by HGNC Primary source HGNC:HGNC:4265 See related Ensembl:ENSG00000118702 MIM:139190; AllianceGenome:HGNC:4265 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 GRF; INN; GHRF Summary This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary gland. Variant receptors for somatoliberin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
GHRHR, Official Symbol GHRHRprovided by HGNC Official Full Name growth hormone releasing hormone receptorprovided by HGNC Primary source HGNC:HGNC:4266 See related Ensembl:ENSG00000106128 MIM:139191; AllianceGenome:HGNC:4266 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 GRFR; GHRFR; IGHD4; IGHD1B Summary This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all
GHRL, Official Symbol GHRLprovided by HGNC Official Full Name ghrelin and obestatin prepropeptideprovided by HGNC Primary source HGNC:HGNC:18129 See related Ensembl:ENSG00000157017 MIM:605353; AllianceGenome:HGNC:18129 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 MTLRP Summary This gene encodes the ghrelin-obestatin preproprotein that is cleaved to yield two peptides, ghrelin and obestatin. Ghrelin is a powerful appetite stimulant and plays an important role in energy homeostasis. Its secretion is initiated when the stomach is empty, whereupon it binds to the growth hormone secretagogue receptor in the hypothalamus which results in the secretion of growth hormone (somatotropin). Ghrelin is thought to regulate multiple activities, including hunger, reward perception via the mesolimbic pathway, gastric acid secretion, gastrointestinal motility, and pancreatic glucose-stimulated insulin secretion. It was initially proposed that obestatin plays an opposing role to ghrelin by promoting satiety and thus decreasing food intake, but this action is still debated. Recent reports suggest multiple metabolic roles for obestatin, including regulating adipocyte function and glucose metabolism. Alternative splicing results in multiple transcript variants. In addition, antisense transcripts for this gene have been identified and may potentially regulate ghrelin-obestatin preproprotein expression. [provided by RefSeq, Nov 2014] Expression Biased expression in stomach (RPKM 63.9) and duodenum (RPKM 5.6) See more Orthologs mouse all
GHRLOS, Official Symbol GHRLOSprovided by HGNC Official Full Name ghrelin opposite strand/antisense RNAprovided by HGNC Primary source HGNC:HGNC:33885 See related Ensembl:ENSG00000240288 MIM:618445; AllianceGenome:HGNC:33885 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 GHRLAS; GHRL-AS1; NCRNA00068 Summary This gene is an antisense gene of the ghrelin/obestatin prepropeptide gene. Alternatively spliced transcript variants have been identified and they may function as non-coding regulatory RNAs. [provided by RefSeq, Jan 2013] Expression Ubiquitous expression in stomach (RPKM 13.1), bone marrow (RPKM 11.6) and 24 other tissues See more
GHSR, Official Symbol GHSRprovided by HGNC Official Full Name growth hormone secretagogue receptorprovided by HGNC Primary source HGNC:HGNC:4267 See related Ensembl:ENSG00000121853 MIM:601898; AllianceGenome:HGNC:4267 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 GHDP Summary This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all
GID4, Official Symbol GID4provided by HGNC Official Full Name GID complex subunit 4 homologprovided by HGNC Primary source HGNC:HGNC:28453 See related Ensembl:ENSG00000141034 MIM:617699; AllianceGenome:HGNC:28453 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 VID2; VID24; C17orf39 Summary The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 9.8), esophagus (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
GID8, Official Symbol GID8provided by HGNC Official Full Name GID complex subunit 8 homologprovided by HGNC Primary source HGNC:HGNC:15857 See related Ensembl:ENSG00000101193 MIM:611625; AllianceGenome:HGNC:15857 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 TWA1; C20orf11 Summary Predicted to enable protein homodimerization activity. Involved in positive regulation of canonical Wnt signaling pathway and positive regulation of cell population proliferation. Located in cell junction; cytosol; and nucleoplasm. Part of ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 17.5), ovary (RPKM 15.5) and 25 other tissues See more Orthologs mouse all
GIGYF1, Official Symbol GIGYF1provided by HGNC Official Full Name GRB10 interacting GYF protein 1provided by HGNC Primary source HGNC:HGNC:9126 See related Ensembl:ENSG00000146830 MIM:612064; AllianceGenome:HGNC:9126 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 GYF1; PERQ1 Summary This gene encodes a member of the gyf family of adaptor proteins. The encoded protein contains a gyf protein interaction domain. It binds growth factor receptor bound 10, another adaptor protein that binds activated insulin-like growth factor 1 and insulin receptors and regulates receptor signaling. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in testis (RPKM 15.6), endometrium (RPKM 14.8) and 25 other tissues See more Orthologs mouse all
GIGYF2, Official Symbol GIGYF2provided by HGNC Official Full Name GRB10 interacting GYF protein 2provided by HGNC Primary source HGNC:HGNC:11960 See related Ensembl:ENSG00000204120 MIM:612003; AllianceGenome:HGNC:11960 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 GYF2; PERQ2; PERQ3; PARK11; TNRC15 Summary This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] Expression Ubiquitous expression in testis (RPKM 16.1), thyroid (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
GIMAP1, Official Symbol GIMAP1provided by HGNC Official Full Name GTPase, IMAP family member 1provided by HGNC Primary source HGNC:HGNC:23237 See related Ensembl:ENSG00000213203 MIM:608084; AllianceGenome:HGNC:23237 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 IAN2; IMAP1; HIMAP1; IMAP38 Summary This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene is thought to be involved in the differentiation of T helper (Th) cells of the Th1 lineage, and the related mouse gene has been shown to be critical for the development of mature B and T lymphocytes. Read-through transcription exists between this gene and the downstream GIMAP5 (GTPase, IMAP family member 5) gene. [provided by RefSeq, Dec 2010] Expression Broad expression in spleen (RPKM 16.0), lymph node (RPKM 10.4) and 20 other tissues See more Orthologs all
GIMAP1-GIMAP5, Official Symbol GIMAP1-GIMAP5provided by HGNC Official Full Name GIMAP1-GIMAP5 readthroughprovided by HGNC Primary source HGNC:HGNC:51257 See related Ensembl:ENSG00000281887 AllianceGenome:HGNC:51257 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 locus represents naturally occurring readthrough transcription between the neighboring GIMAP1 (GTPase, IMAP family member 1) and GIMAP5 (GTPase, IMAP family member 5) genes on chromosome 7. Alternative splicing results in multiple readthrough transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jan 2015] Expression Broad expression in lymph node (RPKM 55.4), spleen (RPKM 41.4) and 22 other tissues See more Orthologs all
GIMAP2, Official Symbol GIMAP2provided by HGNC Official Full Name GTPase, IMAP family member 2provided by HGNC Primary source HGNC:HGNC:21789 See related Ensembl:ENSG00000106560 MIM:608085; AllianceGenome:HGNC:21789 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 IAN12; IMAP2; HIMAP2 Summary This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 31.9), spleen (RPKM 29.6) and 22 other tissues See more Orthologs all
GIMAP3P, Official Symbol GIMAP3Pprovided by HGNC Official Full Name GTPase, IMAP family member 3 pseudogeneprovided by HGNC Primary source HGNC:HGNC:30975 See related Ensembl:ENSG00000177590 AllianceGenome:HGNC:30975 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IAN4P; GIMAP3
GIMAP4, Official Symbol GIMAP4provided by HGNC Official Full Name GTPase, IMAP family member 4provided by HGNC Primary source HGNC:HGNC:21872 See related Ensembl:ENSG00000133574 MIM:608087; AllianceGenome:HGNC:21872 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 IAN1; IAN-1; IMAP4; MSTP062 Summary This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The encoded protein of this gene may be negatively regulated by T-cell acute lymphocytic leukemia 1 (TAL1). In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 64.9), spleen (RPKM 59.9) and 22 other tissues See more Orthologs mouse all
GIMAP5, Official Symbol GIMAP5provided by HGNC Official Full Name GTPase, IMAP family member 5provided by HGNC Primary source HGNC:HGNC:18005 See related Ensembl:ENSG00000196329 MIM:608086; AllianceGenome:HGNC:18005 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 IAN4; IAN5; IROD; IAN-5; IMAP3; NCPH2; HIMAP3; IAN4L1 Summary This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene encodes an antiapoptotic protein that functions in T-cell survival. Polymorphisms in this gene are associated with systemic lupus erythematosus. Read-through transcription exists between this gene and the neighboring upstream GIMAP1 (GTPase, IMAP family member 1) gene. [provided by RefSeq, Dec 2010] Expression Broad expression in lymph node (RPKM 61.1), spleen (RPKM 41.6) and 21 other tissues See more Orthologs all
GIMAP6, Official Symbol GIMAP6provided by HGNC Official Full Name GTPase, IMAP family member 6provided by HGNC Primary source HGNC:HGNC:21918 See related Ensembl:ENSG00000133561 MIM:616960; AllianceGenome:HGNC:21918 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 IAN2; IAN6; IAN-2; IAN-6 Summary This gene encodes a member of the GTPases of immunity-associated proteins (GIMAP) family. GIMAP proteins contain GTP-binding and coiled-coil motifs, and may play roles in the regulation of cell survival. Decreased expression of this gene may play a role in non-small cell lung cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is found in a cluster with seven additional GIMAP genes on the long arm of chromosome 7. [provided by RefSeq, Sep 2011] Expression Broad expression in spleen (RPKM 29.7), lymph node (RPKM 22.3) and 23 other tissues See more Orthologs all
GIMAP7, Official Symbol GIMAP7provided by HGNC Official Full Name GTPase, IMAP family member 7provided by HGNC Primary source HGNC:HGNC:22404 See related Ensembl:ENSG00000179144 MIM:616961; AllianceGenome:HGNC:22404 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 IAN7; hIAN7 Summary This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 74.8), spleen (RPKM 59.3) and 19 other tissues See more Orthologs all
GIMAP8, Official Symbol GIMAP8provided by HGNC Official Full Name GTPase, IMAP family member 8provided by HGNC Primary source HGNC:HGNC:21792 See related Ensembl:ENSG00000171115 MIM:616962; AllianceGenome:HGNC:21792 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 IAN6; IAN9; IANT; IAN-9 Summary This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 22.2), lung (RPKM 17.5) and 22 other tissues See more Orthologs mouse all
GIMD1, Official Symbol GIMD1provided by HGNC Official Full Name GIMAP family P-loop NTPase domain containing 1provided by HGNC Primary source HGNC:HGNC:44141 See related Ensembl:ENSG00000250298 AllianceGenome:HGNC:44141 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 GTP binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in duodenum (RPKM 13.2), small intestine (RPKM 7.6) and 1 other tissue See more Orthologs mouse all
GIN1, Official Symbol GIN1provided by HGNC Official Full Name gypsy retrotransposon integrase 1provided by HGNC Primary source HGNC:HGNC:25959 See related Ensembl:ENSG00000145723 AllianceGenome:HGNC:25959 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 GIN-1; TGIN1; ZH2C2 Summary Predicted to enable nucleic acid binding activity. Predicted to be involved in DNA integration. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 1.7), thyroid (RPKM 1.6) and 25 other tissues See more Orthologs mouse all
GINM1, Official Symbol GINM1provided by HGNC Official Full Name glycosylated integral membrane protein 1provided by HGNC Primary source HGNC:HGNC:21074 See related Ensembl:ENSG00000055211 AllianceGenome:HGNC:21074 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 C6orf72 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 51.1), kidney (RPKM 49.2) and 25 other tissues See more Orthologs mouse all
GINS1, Official Symbol GINS1provided by HGNC Official Full Name GINS complex subunit 1provided by HGNC Primary source HGNC:HGNC:28980 See related Ensembl:ENSG00000101003 MIM:610608; AllianceGenome:HGNC:28980 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 PSF1; IMD55 Summary The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM, Mar 2008] Expression Broad expression in testis (RPKM 4.5), lymph node (RPKM 2.0) and 19 other tissues See more Orthologs mouse all
GINS2, Official Symbol GINS2provided by HGNC Official Full Name GINS complex subunit 2provided by HGNC Primary source HGNC:HGNC:24575 See related Ensembl:ENSG00000131153 MIM:610609; AllianceGenome:HGNC:24575 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 PSF2; Pfs2; HSPC037 Summary The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3 (GINS3; MIM 610610). The formation of this complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008] Expression Broad expression in bone marrow (RPKM 11.1), lymph node (RPKM 10.1) and 20 other tissues See more Orthologs mouse all
GINS3, Official Symbol GINS3provided by HGNC Official Full Name GINS complex subunit 3provided by HGNC Primary source HGNC:HGNC:25851 See related Ensembl:ENSG00000181938 MIM:610610; AllianceGenome:HGNC:25851 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 PSF3 Summary This gene encodes a protein subunit of the GINS heterotetrameric complex, which is essential for the initiation of DNA replication and replisome progression in eukaryotes. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 4.0), testis (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
GINS4, Official Symbol GINS4provided by HGNC Official Full Name GINS complex subunit 4provided by HGNC Primary source HGNC:HGNC:28226 See related Ensembl:ENSG00000147536 MIM:610611; AllianceGenome:HGNC:28226 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 SLD5 Summary The yeast heterotetrameric GINS complex is made up of Sld5, Psf1 (GINS1; MIM 610608), Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008] Expression Broad expression in lymph node (RPKM 2.4), appendix (RPKM 2.0) and 23 other tissues See more Orthologs mouse all
GIP, Official Symbol GIPprovided by HGNC Official Full Name gastric inhibitory polypeptideprovided by HGNC Primary source HGNC:HGNC:4270 See related Ensembl:ENSG00000159224 MIM:137240; AllianceGenome:HGNC:4270 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 an incretin hormone and belongs to the glucagon superfamily. The encoded protein is important in maintaining glucose homeostasis as it is a potent stimulator of insulin secretion from pancreatic beta-cells following food ingestion and nutrient absorption. This gene stimulates insulin secretion via its G protein-coupled receptor activation of adenylyl cyclase and other signal transduction pathways. It is a relatively poor inhibitor of gastric acid secretion. [provided by RefSeq, Jul 2008] Expression Biased expression in duodenum (RPKM 96.0) and small intestine (RPKM 33.9) See more Orthologs mouse all
GIPC1, Official Symbol GIPC1provided by HGNC Official Full Name GIPC PDZ domain containing family member 1provided by HGNC Primary source HGNC:HGNC:1226 See related Ensembl:ENSG00000123159 MIM:605072; AllianceGenome:HGNC:1226 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 NIP; GIPC; IIP-1; OPDM2; TIP-2; SEMCAP; C19orf3; Hs.6454; GLUT1CBP; RGS19IP1; SYNECTIN; SYNECTIIN Summary GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009] Expression Broad expression in colon (RPKM 53.4), esophagus (RPKM 31.8) and 23 other tissues See more Orthologs mouse all
GIPC2, Official Symbol GIPC2provided by HGNC Official Full Name GIPC PDZ domain containing family member 2provided by HGNC Primary source HGNC:HGNC:18177 See related Ensembl:ENSG00000137960 MIM:619089; AllianceGenome:HGNC:18177 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 SEMCAP2; SEMCAP-2 Summary Enables identical protein binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 20.2), small intestine (RPKM 19.8) and 18 other tissues See more Orthologs mouse all
GIPC3, Official Symbol GIPC3provided by HGNC Official Full Name GIPC PDZ domain containing family member 3provided by HGNC Primary source HGNC:HGNC:18183 See related Ensembl:ENSG00000179855 MIM:608792; AllianceGenome:HGNC:18183 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 DFNB15; DFNB72; DFNB95; C19orf64 Summary The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in esophagus (RPKM 3.1), fat (RPKM 3.0) and 23 other tissues See more Orthologs mouse all
GIPR, Official Symbol GIPRprovided by HGNC Official Full Name gastric inhibitory polypeptide receptorprovided by HGNC Primary source HGNC:HGNC:4271 See related Ensembl:ENSG00000010310 MIM:137241; AllianceGenome:HGNC:4271 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 PGQTL2 Summary This gene encodes a G-protein coupled receptor for gastric inhibitory polypeptide (GIP), which was originally identified as an activity in gut extracts that inhibited gastric acid secretion and gastrin release, but subsequently was demonstrated to stimulate insulin release in the presence of elevated glucose. Mice lacking this gene exhibit higher blood glucose levels with impaired initial insulin response after oral glucose load. Defect in this gene thus may contribute to the pathogenesis of diabetes. [provided by RefSeq, Oct 2011] Expression Broad expression in stomach (RPKM 5.3), fat (RPKM 1.5) and 16 other tissues See more Orthologs mouse all
GIT1, Official Symbol GIT1provided by HGNC Official Full Name GIT ArfGAP 1provided by HGNC Primary source HGNC:HGNC:4272 See related Ensembl:ENSG00000108262 MIM:608434; AllianceGenome:HGNC:4272 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 p95-APP1 Summary Enables gamma-tubulin binding activity. Involved in positive regulation of microtubule nucleation and regulation of cytokinesis. Located in several cellular components, including focal adhesion; microtubule cytoskeleton; and mitochondrion. Implicated in attention deficit hyperactivity disorder. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 58.9), brain (RPKM 28.4) and 23 other tissues See more Orthologs mouse all
GIT2, Official Symbol GIT2provided by HGNC Official Full Name GIT ArfGAP 2provided by HGNC Primary source HGNC:HGNC:4273 See related Ensembl:ENSG00000139436 MIM:608564; AllianceGenome:HGNC:4273 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 PKL; CAT2; CAT-2 Summary This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT proteins traffic between cytoplasmic complexes, focal adhesions, and the cell periphery, and interact with Pak interacting exchange factor beta (PIX) to form large oligomeric complexes that transiently recruit other proteins. GIT proteins regulate cytoskeletal dynamics and participate in receptor internalization and membrane trafficking. This gene has been shown to repress lamellipodial extension and focal adhesion turnover, and is thought to regulate cell motility. This gene undergoes extensive alternative splicing to generate multiple isoforms, but the full-length nature of some of these variants has not been determined. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding. [provided by RefSeq, Sep 2008] Expression Ubiquitous expression in spleen (RPKM 15.0), lymph node (RPKM 13.1) and 25 other tissues See more Orthologs mouse all
GJA1, Official Symbol GJA1provided by HGNC Official Full Name gap junction protein alpha 1provided by HGNC Primary source HGNC:HGNC:4274 See related Ensembl:ENSG00000152661 MIM:121014; AllianceGenome:HGNC:4274 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 HSS; CMDR; CX43; EKVP; GJAL; ODDD; AVSD3; EKVP3; HLHS1; PPKCA Summary This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014] Expression Broad expression in skin (RPKM 198.8), adrenal (RPKM 176.9) and 17 other tissues See more Orthologs mouse all
GJA10, Official Symbol GJA10provided by HGNC Official Full Name gap junction protein alpha 10provided by HGNC Primary source HGNC:HGNC:16995 See related Ensembl:ENSG00000135355 MIM:611924; AllianceGenome:HGNC:16995 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 CX62 Summary Connexins, such as GJA10, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] Orthologs mouse all
GJA3, Official Symbol GJA3provided by HGNC Official Full Name gap junction protein alpha 3provided by HGNC Primary source HGNC:HGNC:4277 See related Ensembl:ENSG00000121743 MIM:121015; AllianceGenome:HGNC:4277 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 CX46; CZP3; CTRCT14 Summary The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010] Expression Biased expression in heart (RPKM 3.2), placenta (RPKM 1.8) and 3 other tissues See more Orthologs mouse all
GJA4, Official Symbol GJA4provided by HGNC Official Full Name gap junction protein alpha 4provided by HGNC Primary source HGNC:HGNC:4278 See related Ensembl:ENSG00000187513 MIM:121012; AllianceGenome:HGNC:4278 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 CX37 Summary This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 24.9), fat (RPKM 18.0) and 17 other tissues See more Orthologs mouse all
GJA5, Official Symbol GJA5provided by HGNC Official Full Name gap junction protein alpha 5provided by HGNC Primary source HGNC:HGNC:4279 See related Ensembl:ENSG00000265107 MIM:121013; AllianceGenome:HGNC:4279 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 CX40; ATFB11 Summary This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008] Expression Biased expression in placenta (RPKM 23.7), lung (RPKM 11.2) and 11 other tissues See more Orthologs mouse all
GJA8, Official Symbol GJA8provided by HGNC Official Full Name gap junction protein alpha 8provided by HGNC Primary source HGNC:HGNC:4281 See related Ensembl:ENSG00000121634 MIM:600897; AllianceGenome:HGNC:4281 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 CAE; CAE1; CX50; CZP1; MP70; CTRCT1 Summary This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009] Expression Restricted expression toward testis (RPKM 2.4) See more Orthologs mouse all
GJA9, Official Symbol GJA9provided by HGNC Official Full Name gap junction protein alpha 9provided by HGNC Primary source HGNC:HGNC:19155 See related Ensembl:ENSG00000131233 MIM:611923; AllianceGenome:HGNC:19155 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 CX58; CX59; GJA10 Summary Connexins, such as GJA9, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] Expression Biased expression in testis (RPKM 4.0), skin (RPKM 0.6) and 6 other tissues See more Orthologs all
GJB1, Official Symbol GJB1provided by HGNC Official Full Name gap junction protein beta 1provided by HGNC Primary source HGNC:HGNC:4283 See related Ensembl:ENSG00000169562 MIM:304040; AllianceGenome:HGNC:4283 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 CMTX; CX32; CMTX1 Summary This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008] Expression Biased expression in liver (RPKM 81.6), kidney (RPKM 24.7) and 10 other tissues See more Orthologs mouse all
GJB2, Official Symbol GJB2provided by HGNC Official Full Name gap junction protein beta 2provided by HGNC Primary source HGNC:HGNC:4284 See related Ensembl:ENSG00000165474 MIM:121011; AllianceGenome:HGNC:4284 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 HID; KID; PPK; BAPS; CX26; DFNA3; DFNB1; NSRD1; DFNA3A; DFNB1A Summary This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008] Expression Biased expression in esophagus (RPKM 338.5) and skin (RPKM 18.9) See more Orthologs mouse all
GJB3, Official Symbol GJB3provided by HGNC Official Full Name gap junction protein beta 3provided by HGNC Primary source HGNC:HGNC:4285 See related Ensembl:ENSG00000188910 MIM:603324; AllianceGenome:HGNC:4285 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 EKV; CX31; DFNA2; EKVP1; DFNA2B Summary This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 23.0), esophagus (RPKM 12.6) and 4 other tissues See more Orthologs mouse all
GJB4, Official Symbol GJB4provided by HGNC Official Full Name gap junction protein beta 4provided by HGNC Primary source HGNC:HGNC:4286 See related Ensembl:ENSG00000189433 MIM:605425; AllianceGenome:HGNC:4286 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 EKV; EKVP2; CX30.3 Summary This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009] Expression Biased expression in skin (RPKM 10.4), gall bladder (RPKM 1.6) and 2 other tissues See more Orthologs mouse all
GJB5, Official Symbol GJB5provided by HGNC Official Full Name gap junction protein beta 5provided by HGNC Primary source HGNC:HGNC:4287 See related Ensembl:ENSG00000189280 MIM:604493; AllianceGenome:HGNC:4287 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 CX31.1 Summary This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012] Expression Biased expression in skin (RPKM 23.3), esophagus (RPKM 21.2) and 2 other tissues See more Orthologs mouse all
GJB6, Official Symbol GJB6provided by HGNC Official Full Name gap junction protein beta 6provided by HGNC Primary source HGNC:HGNC:4288 See related Ensembl:ENSG00000121742 MIM:604418; AllianceGenome:HGNC:4288 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 ED2; EDH; HED; CX30; HED2; DFNA3; ECTD2; DFNA3B; DFNB1B Summary Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008] Expression Biased expression in esophagus (RPKM 49.4), bone marrow (RPKM 18.1) and 3 other tissues See more Orthologs mouse all