psui3905/ncbi_genes_summary huggingface dataset:
GET3, Official Symbol GET3provided by HGNC Official Full Name guided entry of tail-anchored proteins factor 3, ATPaseprovided by HGNC Primary source HGNC:HGNC:752 See related Ensembl:ENSG00000198356 MIM:601913; AllianceGenome:HGNC:752 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 ARSA1; ASNA1; CMD2H; TRC40; ARSA-I; ASNA-I Summary This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in kidney (RPKM 39.3), thyroid (RPKM 34.9) and 25 other tissues See more Orthologs mouse all
GET4, Official Symbol GET4provided by HGNC Official Full Name guided entry of tail-anchored proteins factor 4provided by HGNC Primary source HGNC:HGNC:21690 See related Ensembl:ENSG00000239857 MIM:612056; AllianceGenome:HGNC:21690 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 CEE; CDG2Y; TRC35; CGI-20; C7orf20 Summary Enables chaperone binding activity. Involved in cytoplasmic sequestering of protein; maintenance of unfolded protein involved in ERAD pathway; and tail-anchored membrane protein insertion into ER membrane. Located in chromosome; cytosol; and nuclear lumen. Part of BAT3 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 20.0), adrenal (RPKM 15.8) and 25 other tissues See more Orthologs mouse all
GFAP, Official Symbol GFAPprovided by HGNC Official Full Name glial fibrillary acidic proteinprovided by HGNC Primary source HGNC:HGNC:4235 See related Ensembl:ENSG00000131095 MIM:137780; AllianceGenome:HGNC:4235 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 ALXDRD Summary This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Expression Restricted expression toward brain (RPKM 1208.4) See more Orthologs mouse all
GFER, Official Symbol GFERprovided by HGNC Official Full Name growth factor, augmenter of liver regenerationprovided by HGNC Primary source HGNC:HGNC:4236 See related Ensembl:ENSG00000127554 MIM:600924; AllianceGenome:HGNC:4236 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 ALR; HPO; HSS; ERV1; HPO1; HPO2; HERV1; MMCHD; MPMCD Summary The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in small intestine (RPKM 7.8), duodenum (RPKM 7.7) and 25 other tissues See more Orthologs mouse all
GFI1, Official Symbol GFI1provided by HGNC Official Full Name growth factor independent 1 transcriptional repressorprovided by HGNC Primary source HGNC:HGNC:4237 See related Ensembl:ENSG00000162676 MIM:600871; AllianceGenome:HGNC:4237 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 SCN2; GFI-1; GFI1A; ZNF163 Summary This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 11.4), lymph node (RPKM 2.0) and 10 other tissues See more Orthologs mouse all
GFI1B, Official Symbol GFI1Bprovided by HGNC Official Full Name growth factor independent 1B transcriptional repressorprovided by HGNC Primary source HGNC:HGNC:4238 See related Ensembl:ENSG00000165702 MIM:604383; AllianceGenome:HGNC:4238 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 BDPLT17; ZNF163B Summary This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014] Expression Biased expression in bone marrow (RPKM 8.3) and testis (RPKM 0.5) See more Orthologs mouse all
GFM1, Official Symbol GFM1provided by HGNC Official Full Name G elongation factor mitochondrial 1provided by HGNC Primary source HGNC:HGNC:13780 See related Ensembl:ENSG00000168827 MIM:606639; AllianceGenome:HGNC:13780 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 EFG; GFM; EFG1; EFGM; EGF1; hEFG1; COXPD1; mtEF-G1 Summary Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 17.7), thyroid (RPKM 16.7) and 25 other tissues See more Orthologs mouse all
GFM2, Official Symbol GFM2provided by HGNC Official Full Name GTP dependent ribosome recycling factor mitochondrial 2provided by HGNC Primary source HGNC:HGNC:29682 See related Ensembl:ENSG00000164347 MIM:606544; AllianceGenome:HGNC:29682 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 RRF; EFG2; RRF2; MRRF2; hEFG2; MST027; RRF2mt; EF-G2mt; MSTP027; mEF-G 2 Summary Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors, which is a GTPase that plays a role at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA . Its role in the regulation of normal mitochondrial function and in disease states attributed to mitochondrial dysfunction is not known. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in heart (RPKM 9.4), testis (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
GFOD1, Official Symbol GFOD1provided by HGNC Official Full Name Gfo/Idh/MocA-like oxidoreductase domain containing 1provided by HGNC Primary source HGNC:HGNC:21096 See related Ensembl:ENSG00000145990 MIM:619932; AllianceGenome:HGNC:21096 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 ADG-90; C6orf114 Summary Predicted to enable nucleotide binding activity and oxidoreductase activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 7.3), fat (RPKM 5.7) and 21 other tissues See more Orthologs mouse all
GFOD2, Official Symbol GFOD2provided by HGNC Official Full Name Gfo/Idh/MocA-like oxidoreductase domain containing 2provided by HGNC Primary source HGNC:HGNC:28159 See related Ensembl:ENSG00000141098 MIM:619933; AllianceGenome:HGNC:28159 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 nucleotide binding activity and oxidoreductase activity. Predicted to be involved in extracellular matrix organization. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 4.4), brain (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
GFPT1, Official Symbol GFPT1provided by HGNC Official Full Name glutamine--fructose-6-phosphate transaminase 1provided by HGNC Primary source HGNC:HGNC:4241 See related Ensembl:ENSG00000198380 MIM:138292; AllianceGenome:HGNC:4241 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 GFA; GFAT; GFPT; MSLG; CMS12; GFAT1; CMSTA1; GFAT 1; GFAT1m; GFPT1L Summary This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008] Expression Broad expression in thyroid (RPKM 39.4), colon (RPKM 28.0) and 25 other tissues See more Orthologs mouse all
GFPT2, Official Symbol GFPT2provided by HGNC Official Full Name glutamine-fructose-6-phosphate transaminase 2provided by HGNC Primary source HGNC:HGNC:4242 See related Ensembl:ENSG00000131459 MIM:603865; AllianceGenome:HGNC:4242 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 GFAT; GFAT2; GFAT 2 Summary Predicted to enable glutamine-fructose-6-phosphate transaminase (isomerizing) activity. Predicted to be involved in UDP-N-acetylglucosamine metabolic process; fructose 6-phosphate metabolic process; and protein N-linked glycosylation. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in cytosol. Implicated in type 2 diabetes mellitus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in appendix (RPKM 10.6), gall bladder (RPKM 9.6) and 23 other tissues See more Orthologs mouse all
GFRA1, Official Symbol GFRA1provided by HGNC Official Full Name GDNF family receptor alpha 1provided by HGNC Primary source HGNC:HGNC:4243 See related Ensembl:ENSG00000151892 MIM:601496; AllianceGenome:HGNC:4243 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 GDNFR; RET1L; RETL1; RHDA4; TRNR1; GDNFRA; GFRalpha-1; GFR-ALPHA-1; GDNFR-alpha-1 Summary This gene encodes a member of the glial cell line-derived neurotrophic factor receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature receptor. Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. This receptor is a glycosylphosphatidylinositol (GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprung disease. 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 Ubiquitous expression in fat (RPKM 5.5), brain (RPKM 4.5) and 23 other tissues See more Orthologs mouse all
GFRA2, Official Symbol GFRA2provided by HGNC Official Full Name GDNF family receptor alpha 2provided by HGNC Primary source HGNC:HGNC:4244 See related Ensembl:ENSG00000168546 MIM:601956; AllianceGenome:HGNC:4244 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 NTNRA; RETL2; TRNR2; GDNFRB; NRTNR-ALPHA Summary Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This encoded protein acts preferentially as a receptor for NTN compared to its other family member, GDNF family receptor alpha 1. This gene is a candidate gene for RET-associated diseases. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Expression Broad expression in spleen (RPKM 6.1), thyroid (RPKM 5.3) and 19 other tissues See more Orthologs mouse all
GFRA3, Official Symbol GFRA3provided by HGNC Official Full Name GDNF family receptor alpha 3provided by HGNC Primary source HGNC:HGNC:4245 See related Ensembl:ENSG00000146013 MIM:605710; AllianceGenome:HGNC:4245 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 GDNFR3 Summary The protein encoded by this gene is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor and a member of the GDNF receptor family. It forms a signaling receptor complex with RET tyrosine kinase receptor and binds the ligand, artemin. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 2.5), colon (RPKM 2.3) and 18 other tissues See more Orthologs mouse all
GFRA4, Official Symbol GFRA4provided by HGNC Official Full Name GDNF family receptor alpha 4provided by HGNC Primary source HGNC:HGNC:13821 See related Ensembl:ENSG00000125861 MIM:618679; AllianceGenome:HGNC:13821 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 The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for persephin, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for RET-associated diseases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
GFRAL, Official Symbol GFRALprovided by HGNC Official Full Name GDNF family receptor alpha likeprovided by HGNC Primary source HGNC:HGNC:32789 See related Ensembl:ENSG00000187871 MIM:617837; AllianceGenome:HGNC:32789 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 GRAL; UNQ9356; C6orf144; bA360D14.1 Summary Enables glial cell-derived neurotrophic factor receptor activity and receptor tyrosine kinase binding activity. Involved in glial cell-derived neurotrophic factor receptor signaling pathway; positive regulation of MAPK cascade; and positive regulation of protein kinase B signaling. Located in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
GFUS, Official Symbol GFUSprovided by HGNC Official Full Name GDP-L-fucose synthaseprovided by HGNC Primary source HGNC:HGNC:12390 See related Ensembl:ENSG00000104522 MIM:137020; AllianceGenome:HGNC:12390 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 FX; P35B; TSTA3; SDR4E1 Summary Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in stomach (RPKM 48.7), skin (RPKM 31.8) and 25 other tissues See more Orthologs mouse all
GFY, Official Symbol GFYprovided by HGNC Official Full Name golgi associated olfactory signaling regulatorprovided by HGNC Primary source HGNC:HGNC:44663 See related Ensembl:ENSG00000261949 MIM:618696; AllianceGenome:HGNC:44663 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 Goofy Summary Predicted to be involved in sensory perception of smell. Predicted to act upstream of or within non-motile cilium assembly and protein localization to non-motile cilium. Predicted to be located in Golgi apparatus. Predicted to be integral component of Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
GGA1, Official Symbol GGA1provided by HGNC Official Full Name golgi associated, gamma adaptin ear containing, ARF binding protein 1provided by HGNC Primary source HGNC:HGNC:17842 See related Ensembl:ENSG00000100083 MIM:606004; AllianceGenome:HGNC:17842 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 Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 36.8), spleen (RPKM 8.3) and 23 other tissues See more Orthologs mouse all
GGA2, Official Symbol GGA2provided by HGNC Official Full Name golgi associated, gamma adaptin ear containing, ARF binding protein 2provided by HGNC Primary source HGNC:HGNC:16064 See related Ensembl:ENSG00000103365 MIM:606005; AllianceGenome:HGNC:16064 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 VEAR Summary This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 28.0), thyroid (RPKM 15.2) and 25 other tissues See more Orthologs mouse all
GGA3, Official Symbol GGA3provided by HGNC Official Full Name golgi associated, gamma adaptin ear containing, ARF binding protein 3provided by HGNC Primary source HGNC:HGNC:17079 See related Ensembl:ENSG00000125447 MIM:606006; AllianceGenome:HGNC:17079 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 Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010] Expression Ubiquitous expression in spleen (RPKM 11.9), lymph node (RPKM 11.0) and 25 other tissues See more Orthologs mouse all
GGACT, Official Symbol GGACTprovided by HGNC Official Full Name gamma-glutamylamine cyclotransferaseprovided by HGNC Primary source HGNC:HGNC:25100 See related Ensembl:ENSG00000134864 MIM:613378; AllianceGenome:HGNC:25100 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 A2LD1 Summary The protein encoded by this gene aids in the proteolytic degradation of crosslinked fibrin by breaking down isodipeptide L-gamma-glutamyl-L-epsilon-lysine, a byproduct of fibrin degradation. The reaction catalyzed by the encoded gamma-glutamylaminecyclotransferase produces 5-oxo-L-proline and a free alkylamine. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Aug 2010] Expression Biased expression in kidney (RPKM 12.0), fat (RPKM 1.8) and 13 other tissues See more Orthologs mouse all
GGCT, Official Symbol GGCTprovided by HGNC Official Full Name gamma-glutamylcyclotransferaseprovided by HGNC Primary source HGNC:HGNC:21705 See related Ensembl:ENSG00000006625 MIM:137170; AllianceGenome:HGNC:21705 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 GGC; GCTG; CRF21; C7orf24 Summary The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in cell proliferation, and the expression of this gene is a potential marker for cancer. Pseudogenes of this gene are located on the long arm of chromosome 5 and the short arm of chromosomes 2 and 20. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in skin (RPKM 24.5), colon (RPKM 21.5) and 25 other tissues See more Orthologs mouse all
GGCTP1, Official Symbol GGCTP1provided by HGNC Official Full Name GGCT pseudogene 1provided by HGNC Primary source HGNC:HGNC:54609 See related AllianceGenome:HGNC:54609 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GGCTP2, Official Symbol GGCTP2provided by HGNC Official Full Name GGCT pseudogene 2provided by HGNC Primary source HGNC:HGNC:54610 See related AllianceGenome:HGNC:54610 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GGCX, Official Symbol GGCXprovided by HGNC Official Full Name gamma-glutamyl carboxylaseprovided by HGNC Primary source HGNC:HGNC:4247 See related Ensembl:ENSG00000115486 MIM:137167; AllianceGenome:HGNC:4247 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 VKCFD1 Summary This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] Expression Ubiquitous expression in liver (RPKM 18.5), thyroid (RPKM 16.4) and 25 other tissues See more Orthologs mouse all
GGH, Official Symbol GGHprovided by HGNC Official Full Name gamma-glutamyl hydrolaseprovided by HGNC Primary source HGNC:HGNC:4248 See related Ensembl:ENSG00000137563 MIM:601509; AllianceGenome:HGNC:4248 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 GH; GATD10 Summary This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008] Expression Broad expression in kidney (RPKM 36.6), liver (RPKM 31.0) and 19 other tissues See more Orthologs mouse all
GGN, Official Symbol GGNprovided by HGNC Official Full Name gametogenetinprovided by HGNC Primary source HGNC:HGNC:18869 See related Ensembl:ENSG00000179168 MIM:609966; AllianceGenome:HGNC:18869 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 is a germ cell-specific gene that encodes proteins that interact with POG (proliferation of germ cells). Alternatively spliced transcript variants of a similar mouse gene encode at least three different proteins, namely gametogenetin protein 1a, gametogenetin protein 2, and gametogenetin protein 3, which show a perinuclear, cytoplasmic, and nucleolar localization, respectively. These proteins regulate the localization of POG and may play a role in spermatogenesis. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 12.5) See more Orthologs mouse all
GGNBP1, Official Symbol GGNBP1provided by HGNC Official Full Name gametogenetin binding protein 1 (pseudogene)provided by HGNC Primary source HGNC:HGNC:19427 See related Ensembl:ENSG00000204188 MIM:609495; AllianceGenome:HGNC:19427 Gene type pseudo RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is the ortholog of the mouse gametogenetin-binding protein 1 gene. In human, the open reading frame is disrupted by a nonsense mutation after 8-aa; consequently, this gene is currently considered to be a unitary pseudogene in human even though it is functional in other mammals. [provided by RefSeq, Aug 2009] Expression Biased expression in testis (RPKM 1.5), lymph node (RPKM 0.2) and 2 other tissues See more
GGNBP2, Official Symbol GGNBP2provided by HGNC Official Full Name gametogenetin binding protein 2provided by HGNC Primary source HGNC:HGNC:19357 See related Ensembl:ENSG00000278311 MIM:612275; AllianceGenome:HGNC:19357 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 DIF3; LZK1; DIF-3; LCRG1; ZFP403; ZNF403 Summary Predicted to be involved in spermatogenesis. Predicted to act upstream of or within several processes, including labyrinthine layer blood vessel development; negative regulation of cell population proliferation; and negative regulation of protein phosphorylation. Predicted to be located in cytoplasmic vesicle. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 42.4), bone marrow (RPKM 29.3) and 25 other tissues See more Orthologs mouse all
GGPS1, Official Symbol GGPS1provided by HGNC Official Full Name geranylgeranyl diphosphate synthase 1provided by HGNC Primary source HGNC:HGNC:4249 See related Ensembl:ENSG00000152904 MIM:606982; AllianceGenome:HGNC:4249 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 GGPPS; MDHLO; GGPPS1; MUDHLOV Summary This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, both protein-coding and non-protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010] Expression Ubiquitous expression in testis (RPKM 14.2), prostate (RPKM 11.1) and 25 other tissues See more Orthologs mouse all
GGT1, Official Symbol GGT1provided by HGNC Official Full Name gamma-glutamyltransferase 1provided by HGNC Primary source HGNC:HGNC:4250 See related Ensembl:ENSG00000100031 MIM:612346; AllianceGenome:HGNC:4250 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 GGT; GTG; GGTD; CD224; GGT 1; D22S672; D22S732 Summary The enzyme encoded by this gene is a type I gamma-glutamyltransferase that catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme is composed of a heavy chain and a light chain, which are derived from a single precursor protein. It is expressed in tissues involved in absorption and secretion and may contribute to the etiology of diabetes and other metabolic disorders. Multiple alternatively spliced variants have been identified. There are a number of related genes present on chromosomes 20 and 22, and putative pseudogenes for this gene on chromosomes 2, 13, and 22. [provided by RefSeq, Jan 2014] Expression Biased expression in kidney (RPKM 54.5), duodenum (RPKM 22.2) and 11 other tissues See more Orthologs mouse all
GGT3P, Official Symbol GGT3Pprovided by HGNC Official Full Name gamma-glutamyltransferase 3 pseudogeneprovided by HGNC Primary source HGNC:HGNC:4252 See related Ensembl:ENSG00000197421 AllianceGenome:HGNC:4252 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GGT3 Summary Predicted to enable glutathione hydrolase activity and peptidyltransferase activity. Predicted to be involved in several processes, including peptide metabolic process; response to estradiol; and response to tumor necrosis factor. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 10.5), small intestine (RPKM 4.5) and 12 other tissues See more
GGT5, Official Symbol GGT5provided by HGNC Official Full Name gamma-glutamyltransferase 5provided by HGNC Primary source HGNC:HGNC:4260 See related Ensembl:ENSG00000099998 MIM:137168; AllianceGenome:HGNC:4260 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 GGL; GGT 5; GGTLA1; GGT-REL Summary This gene is a member of the gamma-glutamyl transpeptidase gene family, and some reports indicate that it is capable of cleaving the gamma-glutamyl moiety of glutathione. The protein encoded by this gene is synthesized as a single, catalytically-inactive polypeptide, that is processed post-transcriptionally to form a heavy and light subunit, with the catalytic activity contained within the small subunit. The encoded enzyme is able to convert leukotriene C4 to leukotriene D4, but appears to have distinct substrate specificity compared to gamma-glutamyl transpeptidase. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] Expression Ubiquitous expression in fat (RPKM 18.6), kidney (RPKM 15.2) and 24 other tissues See more Orthologs mouse all
GGT6, Official Symbol GGT6provided by HGNC Official Full Name gamma-glutamyltransferase 6provided by HGNC Primary source HGNC:HGNC:26891 See related Ensembl:ENSG00000167741 MIM:612341; AllianceGenome:HGNC:26891 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 GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008] Expression Biased expression in colon (RPKM 26.8), kidney (RPKM 22.6) and 12 other tissues See more Orthologs mouse all
GGT7, Official Symbol GGT7provided by HGNC Official Full Name gamma-glutamyltransferase 7provided by HGNC Primary source HGNC:HGNC:4259 See related Ensembl:ENSG00000131067 MIM:612342; AllianceGenome:HGNC:4259 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 GGT4; GGTL3; GGTL5; D20S101 Summary This gene is a member of a gene family that encodes enzymes involved in both the metabolism of glutathione and in the transpeptidation of amino acids. Changes in the activity of gamma-glutamyltransferase may signal preneoplastic or toxic conditions in the liver or kidney. The protein encoded by this gene consists of a heavy and a light chain, and it can interact with CT120, a plasma membrane-associated protein that is possibly involved in lung carcinogenesis. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 10.3), thyroid (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
GGTA1, Official Symbol GGTA1provided by HGNC Official Full Name glycoprotein alpha-galactosyltransferase 1 (inactive)provided by HGNC Primary source HGNC:HGNC:4253 See related Ensembl:ENSG00000204136 MIM:104175; AllianceGenome:HGNC:4253 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 GGTA; GLYT2; GGTA1P; a1/3GTP Summary Alpha-1,3-galactosyltransferase (GGTA1) is an enzyme present in most mammals except man, apes, and Old World monkeys. This gene is thought to encode a truncated, non-enzymatic form of the GGTA1 protein that lacks the C-terminal catalytic domain. Aberrant expression of the GGTA1 protein in man can lead to autoimmune diseases and sometimes germ cell tumors. [provided by RefSeq, May 2020] Expression Ubiquitous expression in salivary gland (RPKM 23.8), bone marrow (RPKM 17.7) and 24 other tissues See more Orthologs mouse all
GGTA2P, Official Symbol GGTA2Pprovided by HGNC Official Full Name glycoprotein alpha-galactosyltransferase 2, pseudogeneprovided by HGNC Primary source HGNC:HGNC:4254 See related Ensembl:ENSG00000237766 AllianceGenome:HGNC:4254 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 HGT2; GLYT3; GGTA1P; GLYT2L
GGTLC1, Official Symbol GGTLC1provided by HGNC Official Full Name gamma-glutamyltransferase light chain 1provided by HGNC Primary source HGNC:HGNC:16437 See related Ensembl:ENSG00000149435 MIM:612338; AllianceGenome:HGNC:16437 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 GGTL6; GGTLA3; GGTLA4; dJ831C21.1; dJ831C21.2 Summary This gene encodes a member of the gamma-glutamyl transpeptidase (GGT) family, which are important in the metabolism of glutathione. The most ubiquitously expressed human GGT gene, GGT1, encodes a single transmembrane polypeptide that is post-translationally processed to form a heavy and a light chain. In contrast, the product of this gene only contains homology to the light chain region, and lacks a transmembrane domain. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008] Expression Biased expression in lung (RPKM 7.4), testis (RPKM 4.4) and 6 other tissues See more Orthologs all
GGTLC2, Official Symbol GGTLC2provided by HGNC Official Full Name gamma-glutamyltransferase light chain 2provided by HGNC Primary source HGNC:HGNC:18596 See related Ensembl:ENSG00000100121 MIM:612339; AllianceGenome:HGNC:18596 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 GGTL4 Summary This gene encodes a protein related to enzymes that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides. Unlike similar proteins, the encoded protein contains only the light chain portion and may not have catalytic activity. Alternative splicing results in multiple transcript variants. There are several related family members and related pseudogene for this gene situated in the same region of chromosome 22. [provided by RefSeq, Sep 2013] Expression Biased expression in kidney (RPKM 20.2), testis (RPKM 15.1) and 10 other tissues See more Orthologs all
GGTLC3, Official Symbol GGTLC3provided by HGNC Official Full Name gamma-glutamyltransferase light chain family member 3provided by HGNC Primary source HGNC:HGNC:33426 See related Ensembl:ENSG00000274252 MIM:612340; AllianceGenome:HGNC:33426 Gene type protein coding RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GGT Summary Gamma-glutamyltransferase-1 (GGT1; MIM 612346) is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. Autocatalytic cleavage of the GGT1 precursor polypeptide produces a heavy chain and a light chain that associate with each other to form the functional enzyme. Light chain-only GGTs, such as GGTLC3, contain a region corresponding to the GGT1 light chain, but they lack the membrane-anchoring heavy chain region (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]
GGTLC4P, Official Symbol GGTLC4Pprovided by HGNC Official Full Name gamma-glutamyltransferase light chain 4 pseudogeneprovided by HGNC Primary source HGNC:HGNC:33428 See related Ensembl:ENSG00000230712 AllianceGenome:HGNC:33428 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 GGT
GGTLC5P, Official Symbol GGTLC5Pprovided by HGNC Official Full Name gamma-glutamyltransferase light chain 5 pseudogeneprovided by HGNC Primary source HGNC:HGNC:33427 See related Ensembl:ENSG00000276160 AllianceGenome:HGNC:33427 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 GGT
GH1, Official Symbol GH1provided by HGNC Official Full Name growth hormone 1provided by HGNC Primary source HGNC:HGNC:4261 See related Ensembl:ENSG00000259384 MIM:139250; AllianceGenome:HGNC:4261 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 GH; GHN; GH-N; GHB5; IGHD2; hGH-N; IGHD1A; IGHD1B Summary The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008] Expression Restricted expression toward placenta (RPKM 13.6) See more Orthologs mouse all
GH2, Official Symbol GH2provided by HGNC Official Full Name growth hormone 2provided by HGNC Primary source HGNC:HGNC:4262 See related Ensembl:ENSG00000136487 MIM:139240; AllianceGenome:HGNC:4262 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 GHL; GHV; GH-V; GHB2; hGH-V Summary The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. As in the case of its pituitary counterpart, growth hormone 1, the predominant isoform of this particular family member shows similar somatogenic activity, with reduced lactogenic activity. Mutations in this gene lead to placental growth hormone/lactogen deficiency. [provided by RefSeq, Jul 2008] Expression Restricted expression toward placenta (RPKM 103.3) See more Orthologs all