psui3905/ncbi_genes_summary huggingface dataset:
GPRASP1, Official Symbol GPRASP1provided by HGNC Official Full Name G protein-coupled receptor associated sorting protein 1provided by HGNC Primary source HGNC:HGNC:24834 See related Ensembl:ENSG00000198932 MIM:300417; AllianceGenome:HGNC:24834 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 GASP; GASP1; GASP-1 Summary This gene encodes a member of the GPRASP (G protein-coupled receptor associated sorting protein) family. The protein may modulate lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. It targets receptors for degradation in lysosomes. The receptors interacting with this sorting protein include D2 dopamine receptor (DRD2), delta opioid receptor (OPRD1), beta-2 adrenergic receptor (ADRB2), D4 dopamine receptor (DRD4) and cannabinoid 1 receptor (CB1R). Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, May 2010] Expression Broad expression in brain (RPKM 27.6), ovary (RPKM 20.3) and 21 other tissues See more Orthologs mouse all
GPRASP2, Official Symbol GPRASP2provided by HGNC Official Full Name G protein-coupled receptor associated sorting protein 2provided by HGNC Primary source HGNC:HGNC:25169 See related Ensembl:ENSG00000158301 MIM:300969; AllianceGenome:HGNC:25169 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 DFNX7; GASP2 Summary The protein encoded by this gene is a member of a family that regulates the activity of G protein-coupled receptors (GPCRs). The encoded protein has been shown to be capable of interacting with several GPCRs, including the M1 muscarinic acetylcholine receptor and the calcitonin receptor. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] Expression Broad expression in brain (RPKM 5.6), ovary (RPKM 5.0) and 24 other tissues See more Orthologs mouse all
GPRC5A, Official Symbol GPRC5Aprovided by HGNC Official Full Name G protein-coupled receptor class C group 5 member Aprovided by HGNC Primary source HGNC:HGNC:9836 See related Ensembl:ENSG00000013588 MIM:604138; AllianceGenome:HGNC:9836 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 RAI3; TIG1; RAIG1; GPCR5A; PEIG-1 Summary This gene encodes a member of the type 3 G protein-coupling receptor family, characterized by the signature 7-transmembrane domain motif. The encoded protein may be involved in interaction between retinoid acid and G protein signalling pathways. Retinoic acid plays a critical role in development, cellular growth, and differentiation. This gene may play a role in embryonic development and epithelial cell differentiation. [provided by RefSeq, Jul 2008] Expression Biased expression in lung (RPKM 125.2), colon (RPKM 33.4) and 9 other tissues See more Orthologs mouse all
GPRC5B, Official Symbol GPRC5Bprovided by HGNC Official Full Name G protein-coupled receptor class C group 5 member Bprovided by HGNC Primary source HGNC:HGNC:13308 See related Ensembl:ENSG00000167191 MIM:605948; AllianceGenome:HGNC:13308 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 MLC3; RAIG2; RAIG-2 Summary This gene encodes a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The encoded protein may modulate insulin secretion and increased protein expression is associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015] Expression Biased expression in brain (RPKM 139.6), testis (RPKM 34.2) and 11 other tissues See more Orthologs mouse all
GPRC5C, Official Symbol GPRC5Cprovided by HGNC Official Full Name G protein-coupled receptor class C group 5 member Cprovided by HGNC Primary source HGNC:HGNC:13309 See related Ensembl:ENSG00000170412 MIM:605949; AllianceGenome:HGNC:13309 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 RAIG3; RAIG-3 Summary The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in kidney (RPKM 15.6), thyroid (RPKM 14.0) and 21 other tissues See more Orthologs mouse all
GPRC5D, Official Symbol GPRC5Dprovided by HGNC Official Full Name G protein-coupled receptor class C group 5 member Dprovided by HGNC Primary source HGNC:HGNC:13310 See related Ensembl:ENSG00000111291 MIM:607437; AllianceGenome:HGNC:13310 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 G protein-coupled receptor family; however, the specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
GPRC5D-AS1, Official Symbol GPRC5D-AS1provided by HGNC Official Full Name GPRC5D and HEBP1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53599 See related Ensembl:ENSG00000247498 AllianceGenome:HGNC:53599 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in testis (RPKM 8.3), thyroid (RPKM 2.6) and 19 other tissues See more
GPRC6A, Official Symbol GPRC6Aprovided by HGNC Official Full Name G protein-coupled receptor class C group 6 member Aprovided by HGNC Primary source HGNC:HGNC:18510 See related Ensembl:ENSG00000173612 MIM:613572; AllianceGenome:HGNC:18510 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 GPCR; bA86F4.3 Summary Members of family C of the G protein-coupled receptor (GPCR) superfamily, such as GPRC6A, are characterized by an evolutionarily conserved amino acid-sensing motif linked to an intramembranous 7-transmembrane loop region. Several members of GPCR family C, including GPRC6A, also have a long N-terminal domain (summary by Pi et al., 2005 [PubMed 16199532]).[supplied by OMIM, Nov 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all
GPRIN1, Official Symbol GPRIN1provided by HGNC Official Full Name G protein regulated inducer of neurite outgrowth 1provided by HGNC Primary source HGNC:HGNC:24835 See related Ensembl:ENSG00000169258 MIM:611239; AllianceGenome:HGNC:24835 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 GRIN1 Summary Predicted to enable phosphoprotein binding activity. Predicted to be involved in neuron projection development. Predicted to be located in growth cone. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 11.5), duodenum (RPKM 2.2) and 5 other tissues See more Orthologs mouse all
GPRIN2, Official Symbol GPRIN2provided by HGNC Official Full Name G protein regulated inducer of neurite outgrowth 2provided by HGNC Primary source HGNC:HGNC:23730 See related Ensembl:ENSG00000204175 MIM:611240; AllianceGenome:HGNC:23730 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 GRIN2; KIAA0514 Summary Predicted to be involved in neuron projection development. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Annotation category: suggests misassembly Expression Biased expression in lung (RPKM 5.6), skin (RPKM 4.9) and 12 other tissues See more Orthologs mouse all
GPRIN3, Official Symbol GPRIN3provided by HGNC Official Full Name GPRIN family member 3provided by HGNC Primary source HGNC:HGNC:27733 See related Ensembl:ENSG00000185477 MIM:611241; AllianceGenome:HGNC:27733 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 GRIN3 Summary Predicted to be involved in neuron projection development. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in appendix (RPKM 5.7), lymph node (RPKM 5.4) and 24 other tissues See more Orthologs mouse all
GPS1, Official Symbol GPS1provided by HGNC Official Full Name G protein pathway suppressor 1provided by HGNC Primary source HGNC:HGNC:4549 See related Ensembl:ENSG00000169727 MIM:601934; AllianceGenome:HGNC:4549 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 CSN1; SGN1; COPS1 Summary This gene is known to suppress G-protein and mitogen-activated signal transduction in mammalian cells. The encoded protein shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal transduction in plant cells. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in kidney (RPKM 28.1), testis (RPKM 27.1) and 25 other tissues See more Orthologs mouse all
GPS2, Official Symbol GPS2provided by HGNC Official Full Name G protein pathway suppressor 2provided by HGNC Primary source HGNC:HGNC:4550 See related Ensembl:ENSG00000132522 MIM:601935; AllianceGenome:HGNC:4550 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 AMF-1 Summary This gene encodes a protein involved in G protein-mitogen-activated protein kinase (MAPK) signaling cascades. When overexpressed in mammalian cells, this gene could potently suppress a RAS- and MAPK-mediated signal and interfere with JNK activity, suggesting that the function of this gene may be signal repression. The encoded protein is an integral subunit of the NCOR1-HDAC3 (nuclear receptor corepressor 1-histone deacetylase 3) complex, and it was shown that the complex inhibits JNK activation through this subunit and thus could potentially provide an alternative mechanism for hormone-mediated antagonism of AP1 (activator protein 1) function. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 54.8), spleen (RPKM 24.3) and 25 other tissues See more Orthologs mouse all
GPS2P1, Official Symbol GPS2P1provided by HGNC Official Full Name G protein pathway suppressor 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:49622 See related Ensembl:ENSG00000236496 AllianceGenome:HGNC:49622 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GPS2P2, Official Symbol GPS2P2provided by HGNC Official Full Name G protein pathway suppressor 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:49623 See related Ensembl:ENSG00000230951 AllianceGenome:HGNC:49623 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GPSM1, Official Symbol GPSM1provided by HGNC Official Full Name G protein signaling modulator 1provided by HGNC Primary source HGNC:HGNC:17858 See related Ensembl:ENSG00000160360 MIM:609491; AllianceGenome:HGNC:17858 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 AGS3 Summary G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Expression Broad expression in brain (RPKM 5.1), testis (RPKM 4.7) and 24 other tissues See more Orthologs mouse all
GPSM2, Official Symbol GPSM2provided by HGNC Official Full Name G protein signaling modulator 2provided by HGNC Primary source HGNC:HGNC:29501 See related Ensembl:ENSG00000121957 MIM:609245; AllianceGenome:HGNC:29501 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 LGN; CMCS; PINS; DFNB82 Summary The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in skin (RPKM 9.6), esophagus (RPKM 8.8) and 24 other tissues See more Orthologs mouse all
GPSM3, Official Symbol GPSM3provided by HGNC Official Full Name G protein signaling modulator 3provided by HGNC Primary source HGNC:HGNC:13945 See related Ensembl:ENSG00000213654 MIM:618558; AllianceGenome:HGNC:13945 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 G18; NG1; AGS4; G18.2; C6orf9; G18.1a; G18.1b Summary Predicted to enable GTPase regulator activity. Predicted to be involved in positive regulation of inflammatory response. Predicted to act upstream of or within positive regulation of cytokine production involved in inflammatory response and positive regulation of leukocyte chemotaxis. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 56.7), lymph node (RPKM 55.9) and 21 other tissues See more Orthologs mouse all
GPT, Official Symbol GPTprovided by HGNC Official Full Name glutamic--pyruvic transaminaseprovided by HGNC Primary source HGNC:HGNC:4552 See related Ensembl:ENSG00000167701 MIM:138200; AllianceGenome:HGNC:4552 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 ALT; AAT1; ALT1; GPT1; SGPT Summary This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 2009] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process. Expression Biased expression in liver (RPKM 18.5), kidney (RPKM 12.6) and 12 other tissues See more Orthologs mouse all
GPT2, Official Symbol GPT2provided by HGNC Official Full Name glutamic--pyruvic transaminase 2provided by HGNC Primary source HGNC:HGNC:18062 See related Ensembl:ENSG00000166123 MIM:138210; AllianceGenome:HGNC:18062 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 ALT2; GPT 2; MRT49; NEDSPM Summary This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Expression Broad expression in fat (RPKM 41.2), pancreas (RPKM 29.0) and 15 other tissues See more Orthologs mouse all
GPX1, Official Symbol GPX1provided by HGNC Official Full Name glutathione peroxidase 1provided by HGNC Primary source HGNC:HGNC:4553 See related Ensembl:ENSG00000233276 MIM:138320; AllianceGenome:HGNC:4553 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 GPXD; GSHPX1 Summary The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Other studies indicate that H2O2 is also essential for growth-factor mediated signal transduction, mitochondrial function, and maintenance of thiol redox-balance; therefore, by limiting H2O2 accumulation, glutathione peroxidases are also involved in modulating these processes. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is the most abundant, is ubiquitously expressed and localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. It is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. This gene contains an in-frame GCG trinucleotide repeat in the coding region, and three alleles with 4, 5 or 6 repeats have been found in the human population. The allele with 4 GCG repeats has been significantly associated with breast cancer risk in premenopausal women. Alternatively spliced transcript variants have been found for this gene. Pseudogenes of this locus have been identified on chromosomes X and 21. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in fat (RPKM 212.4), spleen (RPKM 100.0) and 24 other tissues See more Orthologs mouse all
GPX1P2, Official Symbol GPX1P2provided by HGNC Official Full Name glutathione peroxidase pseudogene 2provided by HGNC Primary source HGNC:HGNC:4561 See related AllianceGenome:HGNC:4561 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 GPXL1; GPXL2; GPXP2; GPXP2P
GPX2, Official Symbol GPX2provided by HGNC Official Full Name glutathione peroxidase 2provided by HGNC Primary source HGNC:HGNC:4554 See related Ensembl:ENSG00000176153 MIM:138319; AllianceGenome:HGNC:4554 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 GPRP; GPx-2; GI-GPx; GPRP-2; GPx-GI; GSHPx-2; GSHPX-GI Summary The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is predominantly expressed in the gastrointestinal tract (also in liver in human), is localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. Overexpression of this gene is associated with increased differentiation and proliferation in colorectal cancer. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016] Expression Biased expression in gall bladder (RPKM 164.4), stomach (RPKM 114.6) and 8 other tissues See more Orthologs mouse all
GPX3, Official Symbol GPX3provided by HGNC Official Full Name glutathione peroxidase 3provided by HGNC Primary source HGNC:HGNC:4555 See related Ensembl:ENSG00000211445 MIM:138321; AllianceGenome:HGNC:4555 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 GPx-P; GSHPx-3; GSHPx-P Summary The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is secreted, and is abundantly found in plasma. Downregulation of expression of this gene by promoter hypermethylation has been observed in a wide spectrum of human malignancies, including thyroid cancer, hepatocellular carcinoma and chronic myeloid leukemia. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016] Expression Biased expression in kidney (RPKM 4558.9), thyroid (RPKM 1037.2) and 3 other tissues See more Orthologs mouse all
GPX4, Official Symbol GPX4provided by HGNC Official Full Name glutathione peroxidase 4provided by HGNC Primary source HGNC:HGNC:4556 See related Ensembl:ENSG00000167468 MIM:138322; AllianceGenome:HGNC:4556 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 MCSP; SMDS; GPx-4; PHGPx; snGPx; GSHPx-4; snPHGPx Summary The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme has a high preference for lipid hydroperoxides and protects cells against membrane lipid peroxidation and cell death. It is also required for normal sperm development; thus, it has been identified as a 'moonlighting' protein because of its ability to serve dual functions as a peroxidase, as well as a structural protein in mature spermatozoa. Mutations in this gene are associated with Sedaghatian type of spondylometaphyseal dysplasia (SMDS). This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Transcript variants resulting from alternative splicing or use of alternate promoters have been described to encode isoforms with different subcellular localization. [provided by RefSeq, Dec 2018] Expression Broad expression in fat (RPKM 347.9), testis (RPKM 229.8) and 24 other tissues See more Orthologs mouse all
GPX5, Official Symbol GPX5provided by HGNC Official Full Name glutathione peroxidase 5provided by HGNC Primary source HGNC:HGNC:4557 See related Ensembl:ENSG00000224586 MIM:603435; AllianceGenome:HGNC:4557 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 EGLP; GPx-5; GSHPx-5; HEL-S-75p Summary This gene belongs to the glutathione peroxidase family. It is specifically expressed in the epididymis in the mammalian male reproductive tract, and is androgen-regulated. Unlike several other characterized glutathione peroxidases, this enzyme is not a selenoprotein, lacking the selenocysteine residue. Thus, it is selenium-independent, and has been proposed to play a role in protecting the membranes of spermatozoa from the damaging effects of lipid peroxidation and/or preventing premature acrosome reaction. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2016] Expression Restricted expression toward testis (RPKM 1.2) See more Orthologs mouse all
GPX6, Official Symbol GPX6provided by HGNC Official Full Name glutathione peroxidase 6provided by HGNC Primary source HGNC:HGNC:4558 See related Ensembl:ENSG00000198704 MIM:607913; AllianceGenome:HGNC:4558 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 GPX5p; GPXP3; GPx-6; GSHPx-6; dJ1186N24; dJ1186N24.1 Summary The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. Expression of this gene has been observed in embryos and olfactory epithelium; however, the exact function of this gene is not known. This isozyme is a selenoprotein in humans, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The orthologs of this gene in mouse and rat (and some other species) contain a cysteine (Cys) residue in place of the Sec residue, and their corresponding mRNAs lack SECIS element. [provided by RefSeq, Jul 2017] Expression Low expression observed in reference dataset See more Orthologs mouse all
GPX7, Official Symbol GPX7provided by HGNC Official Full Name glutathione peroxidase 7provided by HGNC Primary source HGNC:HGNC:4559 See related Ensembl:ENSG00000116157 MIM:615784; AllianceGenome:HGNC:4559 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 GPX6; CL683; GPx-7; NPGPx; GSHPx-7 Summary Enables catalase activity. Predicted to be involved in cellular response to oxidative stress. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 15.6), thyroid (RPKM 9.2) and 24 other tissues See more Orthologs mouse all
GPX8, Official Symbol GPX8provided by HGNC Official Full Name glutathione peroxidase 8 (putative)provided by HGNC Primary source HGNC:HGNC:33100 See related Ensembl:ENSG00000164294 MIM:617172; AllianceGenome:HGNC:33100 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 GPx-8; UNQ847; EPLA847; GSHPx-8 Summary Enables peroxidase activity. Predicted to be involved in cellular response to oxidative stress. Predicted to be located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 14.8), endometrium (RPKM 12.4) and 20 other tissues See more Orthologs mouse all
GRAMD1A, Official Symbol GRAMD1Aprovided by HGNC Official Full Name GRAM domain containing 1Aprovided by HGNC Primary source HGNC:HGNC:29305 See related Ensembl:ENSG00000089351 MIM:620178; AllianceGenome:HGNC:29305 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 KIAA1533 Summary Predicted to enable cholesterol binding activity and cholesterol transfer activity. Predicted to be involved in cellular response to cholesterol. Located in cytosol; organelle membrane contact site; and plasma membrane. Is extrinsic component of cytoplasmic side of plasma membrane and intrinsic component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lung (RPKM 13.7), spleen (RPKM 13.3) and 25 other tissues See more Orthologs mouse all
GRAMD1B, Official Symbol GRAMD1Bprovided by HGNC Official Full Name GRAM domain containing 1Bprovided by HGNC Primary source HGNC:HGNC:29214 See related Ensembl:ENSG00000023171 MIM:620179; AllianceGenome:HGNC:29214 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 LINC01059 Summary Predicted to enable cholesterol binding activity; cholesterol transfer activity; and phospholipid binding activity. Predicted to be involved in cellular response to cholesterol and cholesterol homeostasis. Located in endoplasmic reticulum membrane; endoplasmic reticulum-plasma membrane contact site; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in adrenal (RPKM 12.4), duodenum (RPKM 5.7) and 11 other tissues See more Orthologs mouse all
GRAMD1C, Official Symbol GRAMD1Cprovided by HGNC Official Full Name GRAM domain containing 1Cprovided by HGNC Primary source HGNC:HGNC:25252 See related Ensembl:ENSG00000178075 MIM:620180; AllianceGenome:HGNC:25252 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 cholesterol binding activity and cholesterol transfer activity. Predicted to be involved in cellular response to cholesterol. Predicted to be located in endoplasmic reticulum membrane; endoplasmic reticulum-plasma membrane contact site; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 8.8), testis (RPKM 8.7) and 21 other tissues See more Orthologs mouse all
GRAMD2A, Official Symbol GRAMD2Aprovided by HGNC Official Full Name GRAM domain containing 2Aprovided by HGNC Primary source HGNC:HGNC:27287 See related Ensembl:ENSG00000175318 MIM:620181; AllianceGenome:HGNC:27287 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 GRAMD2 Summary Enables phosphatidylinositol-4,5-bisphosphate binding activity. Involved in endoplasmic reticulum-plasma membrane tethering and regulation of store-operated calcium entry. Located in organelle membrane contact site. Is extrinsic component of cytoplasmic side of plasma membrane and intrinsic component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in placenta (RPKM 18.3), lung (RPKM 8.8) and 4 other tissues See more Orthologs mouse all
GRAMD2B, Official Symbol GRAMD2Bprovided by HGNC Official Full Name GRAM domain containing 2Bprovided by HGNC Primary source HGNC:HGNC:24911 See related Ensembl:ENSG00000155324 MIM:620182; AllianceGenome:HGNC:24911 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 GRAMD3; NS3TP2 Summary Enables identical protein binding activity. Located in cytoplasmic microtubule. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 12.1), thyroid (RPKM 10.5) and 23 other tissues See more Orthologs mouse all
GRAMD4, Official Symbol GRAMD4provided by HGNC Official Full Name GRAM domain containing 4provided by HGNC Primary source HGNC:HGNC:29113 See related Ensembl:ENSG00000075240 MIM:613691; AllianceGenome:HGNC:29113 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 DIP Summary GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011] Expression Ubiquitous expression in colon (RPKM 10.9), small intestine (RPKM 9.6) and 25 other tissues See more Orthologs mouse all
GRAMD4P1, Official Symbol GRAMD4P1provided by HGNC Official Full Name GRAM domain containing 4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39653 See related Ensembl:ENSG00000227874 AllianceGenome:HGNC:39653 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GRAMD4P3, Official Symbol GRAMD4P3provided by HGNC Official Full Name GRAM domain containing 4 pseudogene 3provided by HGNC Primary source HGNC:HGNC:49138 See related Ensembl:ENSG00000278301 AllianceGenome:HGNC:49138 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GRAMD4P4, Official Symbol GRAMD4P4provided by HGNC Official Full Name GRAM domain containing 4 pseudogene 4provided by HGNC Primary source HGNC:HGNC:49139 See related Ensembl:ENSG00000274369 AllianceGenome:HGNC:49139 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GRAMD4P5, Official Symbol GRAMD4P5provided by HGNC Official Full Name GRAM domain containing 4 pseudogene 5provided by HGNC Primary source HGNC:HGNC:49140 See related Ensembl:ENSG00000259089 AllianceGenome:HGNC:49140 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GRAMD4P6, Official Symbol GRAMD4P6provided by HGNC Official Full Name GRAM domain containing 4 pseudogene 6provided by HGNC Primary source HGNC:HGNC:49141 See related AllianceGenome:HGNC:49141 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GRAMD4P7, Official Symbol GRAMD4P7provided by HGNC Official Full Name GRAM domain containing 4 pseudogene 7provided by HGNC Primary source HGNC:HGNC:49142 See related Ensembl:ENSG00000266242 AllianceGenome:HGNC:49142 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GRAMD4P8, Official Symbol GRAMD4P8provided by HGNC Official Full Name GRAM domain containing 4 pseudogene 8provided by HGNC Primary source HGNC:HGNC:49143 See related Ensembl:ENSG00000270930 AllianceGenome:HGNC:49143 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GRAP, Official Symbol GRAPprovided by HGNC Official Full Name GRB2 related adaptor proteinprovided by HGNC Primary source HGNC:HGNC:4562 See related Ensembl:ENSG00000154016 MIM:604330; AllianceGenome:HGNC:4562 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 DFNB114 Summary This gene encodes a member of the GRB2/Sem5/Drk family and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. In general, it couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. [provided by RefSeq, Jul 2012] Expression Broad expression in lymph node (RPKM 19.4), spleen (RPKM 17.2) and 19 other tissues See more Orthologs all
GRAP2, Official Symbol GRAP2provided by HGNC Official Full Name GRB2 related adaptor protein 2provided by HGNC Primary source HGNC:HGNC:4563 See related Ensembl:ENSG00000100351 MIM:604518; AllianceGenome:HGNC:4563 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 P38; GADS; GRID; GRPL; GrbX; Mona; GRB2L; GRBLG; Grf40; GRAP-2 Summary This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its SH3 domains. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014] Expression Broad expression in lymph node (RPKM 6.7), spleen (RPKM 4.1) and 17 other tissues See more Orthologs mouse all
GRAPL, Official Symbol GRAPLprovided by HGNC Official Full Name GRB2 related adaptor protein likeprovided by HGNC Primary source HGNC:HGNC:37240 See related Ensembl:ENSG00000189152 AllianceGenome:HGNC:37240 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 GRAPLDR Summary Predicted to enable receptor tyrosine kinase binding activity and signaling adaptor activity. Predicted to be involved in cell migration and signal transduction. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in spleen (RPKM 4.2), lymph node (RPKM 2.8) and 13 other tissues See more Orthologs all
GRASLND, Official Symbol GRASLNDprovided by HGNC Official Full Name glycosaminoglycan regulatory associated long non-coding RNAprovided by HGNC Primary source HGNC:HGNC:30963 See related Ensembl:ENSG00000228203 AllianceGenome:HGNC:30963 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 RNF144A-AS1 Expression Biased expression in spleen (RPKM 6.3), adrenal (RPKM 3.6) and 3 other tissues See more
GRB10, Official Symbol GRB10provided by HGNC Official Full Name growth factor receptor bound protein 10provided by HGNC Primary source HGNC:HGNC:4564 See related Ensembl:ENSG00000106070 MIM:601523; AllianceGenome:HGNC:4564 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 RSS; IRBP; MEG1; GRB-IR; Grb-10 Summary The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010] Expression Ubiquitous expression in thyroid (RPKM 6.6), kidney (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
GRB14, Official Symbol GRB14provided by HGNC Official Full Name growth factor receptor bound protein 14provided by HGNC Primary source HGNC:HGNC:4565 See related Ensembl:ENSG00000115290 MIM:601524; AllianceGenome:HGNC:4565 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 product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Expression Biased expression in kidney (RPKM 7.9), liver (RPKM 7.8) and 12 other tissues See more Orthologs mouse all
GRB2, Official Symbol GRB2provided by HGNC Official Full Name growth factor receptor bound protein 2provided by HGNC Primary source HGNC:HGNC:4566 See related Ensembl:ENSG00000177885 MIM:108355; AllianceGenome:HGNC:4566 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 ASH; Grb3-3; MST084; NCKAP2; MSTP084; EGFRBP-GRB2 Summary The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 63.6), appendix (RPKM 60.2) and 25 other tissues See more Orthologs mouse all