psui3905/ncbi_genes_summary huggingface dataset:
GNA14, Official Symbol GNA14provided by HGNC Official Full Name G protein subunit alpha 14provided by HGNC Primary source HGNC:HGNC:4382 See related Ensembl:ENSG00000156049 MIM:604397; AllianceGenome:HGNC:4382 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 HG1I Summary This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009] Expression Broad expression in thyroid (RPKM 10.6), endometrium (RPKM 6.0) and 22 other tissues See more Orthologs mouse all
GNA14-AS1, Official Symbol GNA14-AS1provided by HGNC Official Full Name GNA14 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50451 See related Ensembl:ENSG00000231373 AllianceGenome:HGNC:50451 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
GNA15, Official Symbol GNA15provided by HGNC Official Full Name G protein subunit alpha 15provided by HGNC Primary source HGNC:HGNC:4383 See related Ensembl:ENSG00000060558 MIM:139314; AllianceGenome:HGNC:4383 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 HG1L; GNA16 Summary Enables G protein-coupled receptor binding activity. Involved in positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric G-protein complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in esophagus (RPKM 28.1), bone marrow (RPKM 27.9) and 13 other tissues See more Orthologs mouse all
GNA15-DT, Official Symbol GNA15-DTprovided by HGNC Official Full Name GNA15 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55293 See related Ensembl:ENSG00000267551 AllianceGenome:HGNC:55293 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in bone marrow (RPKM 2.8), esophagus (RPKM 2.6) and 13 other tissues See more
GNAI1, Official Symbol GNAI1provided by HGNC Official Full Name G protein subunit alpha i1provided by HGNC Primary source HGNC:HGNC:4384 See related Ensembl:ENSG00000127955 MIM:139310; AllianceGenome:HGNC:4384 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 Gi; HG1B; NEDHISB Summary Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in fat (RPKM 39.3), brain (RPKM 28.1) and 22 other tissues See more Orthologs mouse all
GNAI2, Official Symbol GNAI2provided by HGNC Official Full Name G protein subunit alpha i2provided by HGNC Primary source HGNC:HGNC:4385 See related Ensembl:ENSG00000114353 MIM:139360; AllianceGenome:HGNC:4385 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 GIP; HG1C; GNAI2B; H_LUCA15.1; H_LUCA16.1 Summary The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in spleen (RPKM 106.7), bone marrow (RPKM 93.2) and 25 other tissues See more Orthologs mouse all
GNAI2P2, Official Symbol GNAI2P2provided by HGNC Official Full Name G protein subunit alpha i2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:45110 See related Ensembl:ENSG00000231957 AllianceGenome:HGNC:45110 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GNAI3, Official Symbol GNAI3provided by HGNC Official Full Name G protein subunit alpha i3provided by HGNC Primary source HGNC:HGNC:4387 See related Ensembl:ENSG00000065135 MIM:139370; AllianceGenome:HGNC:4387 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 87U6; HG1A; ARCND1; ARCODS Summary Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012] Expression Ubiquitous expression in esophagus (RPKM 27.0), bone marrow (RPKM 22.0) and 25 other tissues See more Orthologs mouse all
GNAL, Official Symbol GNALprovided by HGNC Official Full Name G protein subunit alpha Lprovided by HGNC Primary source HGNC:HGNC:4388 See related Ensembl:ENSG00000141404 MIM:139312; AllianceGenome:HGNC:4388 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 HG1O; DYT25 Summary This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Expression Ubiquitous expression in brain (RPKM 7.2), prostate (RPKM 5.5) and 24 other tissues See more Orthologs mouse all
GNAO1, Official Symbol GNAO1provided by HGNC Official Full Name G protein subunit alpha o1provided by HGNC Primary source HGNC:HGNC:4389 See related Ensembl:ENSG00000087258 MIM:139311; AllianceGenome:HGNC:4389 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 GNAO; HG1G; DEE17; NEDIM; EIEE17; HLA-DQB1; G-ALPHA-o Summary The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015] Expression Biased expression in brain (RPKM 43.5), testis (RPKM 4.7) and 2 other tissues See more Orthologs mouse all
GNAO1-AS1, Official Symbol GNAO1-AS1provided by HGNC Official Full Name GNAO1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:24498 See related Ensembl:ENSG00000261439 AllianceGenome:HGNC:24498 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 DKFZP434H168
GNAQ, Official Symbol GNAQprovided by HGNC Official Full Name G protein subunit alpha qprovided by HGNC Primary source HGNC:HGNC:4390 See related Ensembl:ENSG00000156052 MIM:600998; AllianceGenome:HGNC:4390 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 GAQ; SWS; CMAL; CMC1; G-ALPHA-q Summary This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010] Expression Ubiquitous expression in brain (RPKM 36.1), lung (RPKM 23.2) and 25 other tissues See more Orthologs mouse all
GNAS, Official Symbol GNASprovided by HGNC Official Full Name GNAS complex locusprovided by HGNC Primary source HGNC:HGNC:4392 See related Ensembl:ENSG00000087460 MIM:139320; AllianceGenome:HGNC:4392 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 AHO; GSA; GSP; POH; GPSA; NESP; SCG6; SgVI; GNAS1; PITA3; C20orf45 Summary This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012] Expression Ubiquitous expression in thyroid (RPKM 405.2), brain (RPKM 137.2) and 25 other tissues See more Orthologs mouse all
GNAS-AS1, Official Symbol GNAS-AS1provided by HGNC Official Full Name GNAS antisense RNA 1provided by HGNC Primary source HGNC:HGNC:24872 See related Ensembl:ENSG00000235590 MIM:610540; AllianceGenome:HGNC:24872 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SANG; GNASAS; NESPAS; GNAS-AS; GNAS1AS; NESP-AS; NCRNA00075 Summary This gene produces a paternally-imprinted antisense RNA transcript that helps regulate the GNAS complex locus, which encodes the alpha subunit of the stimulatory G protein. Defects in this gene are a cause of pseudohypoparathyroidism type Ib.[provided by RefSeq, Jun 2010] Expression Low expression observed in reference dataset See more
GNAT1, Official Symbol GNAT1provided by HGNC Official Full Name G protein subunit alpha transducin 1provided by HGNC Primary source HGNC:HGNC:4393 See related Ensembl:ENSG00000114349 MIM:139330; AllianceGenome:HGNC:4393 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 GBT1; HG1F; GNATR; CSNB1G; CSNBAD3 Summary Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
GNAT2, Official Symbol GNAT2provided by HGNC Official Full Name G protein subunit alpha transducin 2provided by HGNC Primary source HGNC:HGNC:4394 See related Ensembl:ENSG00000134183 MIM:139340; AllianceGenome:HGNC:4394 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 HG1D; ACHM4; GNATC Summary Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 1.0), brain (RPKM 0.1) and 10 other tissues See more Orthologs mouse all
GNAT3, Official Symbol GNAT3provided by HGNC Official Full Name G protein subunit alpha transducin 3provided by HGNC Primary source HGNC:HGNC:22800 See related Ensembl:ENSG00000214415 MIM:139395; AllianceGenome:HGNC:22800 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 GDCA; HG1E Summary Sweet, bitter, and umami tastes are transmitted from taste receptors by a specific guanine nucleotide binding protein. The protein encoded by this gene is the alpha subunit of this heterotrimeric G protein, which is found not only in the oral epithelium but also in gut tissues. Variations in this gene have been linked to metabolic syndrome. [provided by RefSeq, Dec 2015] Expression Low expression observed in reference dataset See more Orthologs mouse all
GNAZ, Official Symbol GNAZprovided by HGNC Official Full Name G protein subunit alpha zprovided by HGNC Primary source HGNC:HGNC:4395 See related Ensembl:ENSG00000128266 MIM:139160; AllianceGenome:HGNC:4395 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 HG1H; gz-alpha Summary The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 3.2), gall bladder (RPKM 1.3) and 16 other tissues See more Orthologs mouse all
GNB1, Official Symbol GNB1provided by HGNC Official Full Name G protein subunit beta 1provided by HGNC Primary source HGNC:HGNC:4396 See related Ensembl:ENSG00000078369 MIM:139380; AllianceGenome:HGNC:4396 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 MDS; HG2A; MRD42 Summary Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in brain (RPKM 145.4), small intestine (RPKM 87.2) and 25 other tissues See more Orthologs mouse all
GNB1L, Official Symbol GNB1Lprovided by HGNC Official Full Name G protein subunit beta 1 likeprovided by HGNC Primary source HGNC:HGNC:4397 See related Ensembl:ENSG00000185838 MIM:610778; AllianceGenome:HGNC:4397 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 GY2; FKSG1; WDR14; WDVCF; DGCRK3 Summary This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 1.9), duodenum (RPKM 1.5) and 25 other tissues See more Orthologs mouse all
GNB2, Official Symbol GNB2provided by HGNC Official Full Name G protein subunit beta 2provided by HGNC Primary source HGNC:HGNC:4398 See related Ensembl:ENSG00000172354 MIM:139390; AllianceGenome:HGNC:4398 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 SSS4; HG2C1; SSS4; NEDHYDF Summary Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in esophagus (RPKM 67.4), prostate (RPKM 65.4) and 25 other tissues See more Orthologs mouse all
GNB3, Official Symbol GNB3provided by HGNC Official Full Name G protein subunit beta 3provided by HGNC Primary source HGNC:HGNC:4400 See related Ensembl:ENSG00000111664 MIM:139130; AllianceGenome:HGNC:4400 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 HG2D; CSNB1H Summary Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in ovary (RPKM 2.1), heart (RPKM 1.9) and 23 other tissues See more Orthologs mouse all
GNB4, Official Symbol GNB4provided by HGNC Official Full Name G protein subunit beta 4provided by HGNC Primary source HGNC:HGNC:20731 See related Ensembl:ENSG00000114450 MIM:610863; AllianceGenome:HGNC:20731 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 HG2B; CMTD1F Summary Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 14.7), appendix (RPKM 12.1) and 24 other tissues See more Orthologs mouse all
GNB5, Official Symbol GNB5provided by HGNC Official Full Name G protein subunit beta 5provided by HGNC Primary source HGNC:HGNC:4401 See related Ensembl:ENSG00000069966 MIM:604447; AllianceGenome:HGNC:4401 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 GB5; HG2E; IDDCA; LADCI; LDMLS1; LDMLS2; gbeta5 Summary Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 9.7), kidney (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
GNE, Official Symbol GNEprovided by HGNC Official Full Name glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinaseprovided by HGNC Primary source HGNC:HGNC:23657 See related Ensembl:ENSG00000159921 MIM:603824; AllianceGenome:HGNC:23657 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 NM; DMRV; IBM2; Uae1; GLCNE Summary The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 23.5), colon (RPKM 22.5) and 23 other tissues See more Orthologs mouse all
GNG10, Official Symbol GNG10provided by HGNC Official Full Name G protein subunit gamma 10provided by HGNC Primary source HGNC:HGNC:4402 See related Ensembl:ENSG00000242616 MIM:604389; AllianceGenome:HGNC:4402 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 G-protein beta-subunit binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric G-protein complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in appendix (RPKM 57.2), adrenal (RPKM 51.1) and 25 other tissues See more Orthologs mouse all
GNG11, Official Symbol GNG11provided by HGNC Official Full Name G protein subunit gamma 11provided by HGNC Primary source HGNC:HGNC:4403 See related Ensembl:ENSG00000127920 MIM:604390; AllianceGenome:HGNC:4403 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 HG3H1; GNGT11 Summary This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 168.6), placenta (RPKM 159.2) and 18 other tissues See more Orthologs mouse all
GNG12, Official Symbol GNG12provided by HGNC Official Full Name G protein subunit gamma 12provided by HGNC Primary source HGNC:HGNC:19663 See related Ensembl:ENSG00000172380 MIM:615405; AllianceGenome:HGNC:19663 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 HG3A Summary Enables PDZ domain binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in duodenum (RPKM 59.3), small intestine (RPKM 55.3) and 24 other tissues See more Orthologs mouse all
GNG12-AS1, Official Symbol GNG12-AS1provided by HGNC Official Full Name GNG12, DIRAS3 and WLS antisense RNA 1provided by HGNC Primary source HGNC:HGNC:43938 See related Ensembl:ENSG00000232284 MIM:615406; AllianceGenome:HGNC:43938 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in gall bladder (RPKM 1.2), prostate (RPKM 1.1) and 24 other tissues See more
GNG13, Official Symbol GNG13provided by HGNC Official Full Name G protein subunit gamma 13provided by HGNC Primary source HGNC:HGNC:14131 See related Ensembl:ENSG00000127588 MIM:607298; AllianceGenome:HGNC:14131 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 HG3J; h2-35; G(gamma)13 Summary Heterotrimeric G proteins, which consist of alpha (see MIM 139320), beta (see MIM 139380), and gamma subunits, function as signal transducers for the 7-transmembrane-helix G protein-coupled receptors. GNG13 is a gamma subunit that is expressed in taste, retinal, and neuronal tissues and plays a key role in taste transduction (Li et al., 2006 [PubMed 16473877]).[supplied by OMIM, Oct 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
GNG14, Official Symbol GNG14provided by HGNC Official Full Name G protein subunit gamma 14provided by HGNC Primary source HGNC:HGNC:53439 See related Ensembl:ENSG00000283980 AllianceGenome:HGNC:53439 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 HG3K Summary Predicted to enable G-protein beta-subunit binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Predicted to be part of heterotrimeric G-protein complex. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
GNG2, Official Symbol GNG2provided by HGNC Official Full Name G protein subunit gamma 2provided by HGNC Primary source HGNC:HGNC:4404 See related Ensembl:ENSG00000186469 MIM:606981; AllianceGenome:HGNC:4404 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 HG3F1 Summary This gene encodes one of the gamma subunits of a guanine nucleotide-binding protein. Such proteins are involved in signaling mechanisms across membranes. Various subunits forms heterodimers which then interact with the different signal molecules. [provided by RefSeq, Aug 2011] Expression Broad expression in brain (RPKM 43.3), spleen (RPKM 22.6) and 23 other tissues See more Orthologs mouse all
GNG3, Official Symbol GNG3provided by HGNC Official Full Name G protein subunit gamma 3provided by HGNC Primary source HGNC:HGNC:4405 See related Ensembl:ENSG00000162188 MIM:608941; AllianceGenome:HGNC:4405 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 HG3D Summary Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The gamma subunit determines the specificity of which signaling pathways will be affected by this particular complex. The protein encoded by this gene represents the gamma subunit of both inhibitory and stimulatory complexes. [provided by RefSeq, Jan 2012] Expression Biased expression in brain (RPKM 92.3), adrenal (RPKM 8.1) and 1 other tissue See more Orthologs mouse all
GNG4, Official Symbol GNG4provided by HGNC Official Full Name G protein subunit gamma 4provided by HGNC Primary source HGNC:HGNC:4407 See related Ensembl:ENSG00000168243 MIM:604388; AllianceGenome:HGNC:4407 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 HG3C Summary Predicted to enable G-protein beta-subunit binding activity. Involved in negative regulation of cell growth. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 11.8), ovary (RPKM 8.0) and 8 other tissues See more Orthologs mouse all
GNG5, Official Symbol GNG5provided by HGNC Official Full Name G protein subunit gamma 5provided by HGNC Primary source HGNC:HGNC:4408 See related Ensembl:ENSG00000174021 MIM:600874; AllianceGenome:HGNC:4408 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 G proteins are trimeric (alpha-beta-gamma) membrane-associated proteins that regulate flow of information from cell surface receptors to a variety of internal metabolic effectors. Interaction of a G protein with its activated receptor promotes exchange of GTP for GDP that is bound to the alpha subunit. The alpha-GTP complex dissociates from the beta-gamma heterodimer so that the subunits, in turn, may interact with and regulate effector molecules (Gilman, 1987 [PubMed 3113327]; summary by Ahmad et al., 1995) [PubMed 7606925].[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in colon (RPKM 64.2), bone marrow (RPKM 52.7) and 25 other tissues See more Orthologs mouse all
GNG7, Official Symbol GNG7provided by HGNC Official Full Name G protein subunit gamma 7provided by HGNC Primary source HGNC:HGNC:4410 See related Ensembl:ENSG00000176533 MIM:604430; AllianceGenome:HGNC:4410 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 HG3B Summary Predicted to enable G-protein beta-subunit binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway and regulation of adenylate cyclase activity. Predicted to act upstream of or within behavioral fear response; locomotory behavior; and receptor guanylyl cyclase signaling pathway. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 18.8), heart (RPKM 10.5) and 22 other tissues See more Orthologs mouse all
GNG8, Official Symbol GNG8provided by HGNC Official Full Name G protein subunit gamma 8provided by HGNC Primary source HGNC:HGNC:19664 See related Ensembl:ENSG00000167414 AllianceGenome:HGNC:19664 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 HG3E Summary Predicted to enable G-protein beta-subunit binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Predicted to act upstream of or within cellular response to pheromone; nose development; and social behavior. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric G-protein complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
GNGT1, Official Symbol GNGT1provided by HGNC Official Full Name G protein subunit gamma transducin 1provided by HGNC Primary source HGNC:HGNC:4411 See related Ensembl:ENSG00000127928 MIM:189970; AllianceGenome:HGNC:4411 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 GNG1; HG3G1 Summary This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016] Expression Restricted expression toward placenta (RPKM 1.6) See more Orthologs mouse all
GNGT2, Official Symbol GNGT2provided by HGNC Official Full Name G protein subunit gamma transducin 2provided by HGNC Primary source HGNC:HGNC:4412 See related Ensembl:ENSG00000167083 MIM:139391; AllianceGenome:HGNC:4412 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 GNG9; HG3I; GNGT8; G-GAMMA-8; G-GAMMA-C Summary Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2010] Expression Broad expression in spleen (RPKM 5.8), lymph node (RPKM 4.5) and 21 other tissues See more Orthologs mouse all
GNL1, Official Symbol GNL1provided by HGNC Official Full Name G protein nucleolar 1 (putative)provided by HGNC Primary source HGNC:HGNC:4413 See related Ensembl:ENSG00000204590 MIM:143024; AllianceGenome:HGNC:4413 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 HSR1 Summary The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 17.9), testis (RPKM 13.8) and 25 other tissues See more Orthologs mouse all
GNL2, Official Symbol GNL2provided by HGNC Official Full Name G protein nucleolar 2provided by HGNC Primary source HGNC:HGNC:29925 See related Ensembl:ENSG00000134697 MIM:609365; AllianceGenome:HGNC:29925 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 NGP1; Nog2; Nug2; Ngp-1; HUMAUANTIG Summary Enables RNA binding activity. Predicted to be involved in ribosome biogenesis. Located in nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 19.5), bone marrow (RPKM 14.5) and 25 other tissues See more Orthologs mouse all
GNL2P1, Official Symbol GNL2P1provided by HGNC Official Full Name G protein nucleolar 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:50779 See related Ensembl:ENSG00000223893 AllianceGenome:HGNC:50779 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GNL3, Official Symbol GNL3provided by HGNC Official Full Name G protein nucleolar 3provided by HGNC Primary source HGNC:HGNC:29931 See related Ensembl:ENSG00000163938 MIM:608011; AllianceGenome:HGNC:29931 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 NS; Nug1; E2IG3; NNP47; C77032 Summary The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in urinary bladder (RPKM 35.8), prostate (RPKM 32.9) and 25 other tissues See more Orthologs mouse all
GNL3L, Official Symbol GNL3Lprovided by HGNC Official Full Name G protein nucleolar 3 likeprovided by HGNC Primary source HGNC:HGNC:25553 See related Ensembl:ENSG00000130119 MIM:300873; AllianceGenome:HGNC:25553 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 GNL3B Summary The protein encoded by this gene appears to be a nucleolar GTPase that is essential for ribosomal pre-rRNA processing and cell proliferation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] Expression Ubiquitous expression in thyroid (RPKM 3.6), appendix (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
GNL3LP1, Official Symbol GNL3LP1provided by HGNC Official Full Name G protein nucleolar 3 like pseudogene 1provided by HGNC Primary source HGNC:HGNC:25733 See related Ensembl:ENSG00000215032 AllianceGenome:HGNC:25733 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 GNL3LP
GNLY, Official Symbol GNLYprovided by HGNC Official Full Name granulysinprovided by HGNC Primary source HGNC:HGNC:4414 See related Ensembl:ENSG00000115523 MIM:188855; AllianceGenome:HGNC:4414 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 LAG2; NKG5; LAG-2; D2S69E; TLA519 Summary The product of this gene is a member of the saposin-like protein (SAPLIP) family and is located in the cytotoxic granules of T cells, which are released upon antigen stimulation. This protein is present in cytotoxic granules of cytotoxic T lymphocytes and natural killer cells, and it has antimicrobial activity against M. tuberculosis and other organisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 67.6), endometrium (RPKM 42.4) and 5 other tissues See more Orthologs all
GNMT, Official Symbol GNMTprovided by HGNC Official Full Name glycine N-methyltransferaseprovided by HGNC Primary source HGNC:HGNC:4415 See related Ensembl:ENSG00000124713 MIM:606628; AllianceGenome:HGNC:4415 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 HEL-S-182mP Summary The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016] Expression Biased expression in liver (RPKM 73.9), pancreas (RPKM 27.4) and 1 other tissue See more Orthologs mouse all
GNPAT, Official Symbol GNPATprovided by HGNC Official Full Name glyceronephosphate O-acyltransferaseprovided by HGNC Primary source HGNC:HGNC:4416 See related Ensembl:ENSG00000116906 MIM:602744; AllianceGenome:HGNC:4416 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 DAPAT; RCDP2; DAP-AT; DHAPAT Summary This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] Expression Ubiquitous expression in testis (RPKM 20.9), heart (RPKM 16.9) and 25 other tissues See more Orthologs mouse all
GNPATP, Official Symbol GNPATPprovided by HGNC Official Full Name glyceronephosphate O-acyltransferase pseudogeneprovided by HGNC Primary source HGNC:HGNC:34031 See related AllianceGenome:HGNC:34031 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GNPDA1, Official Symbol GNPDA1provided by HGNC Official Full Name glucosamine-6-phosphate deaminase 1provided by HGNC Primary source HGNC:HGNC:4417 See related Ensembl:ENSG00000113552 MIM:601798; AllianceGenome:HGNC:4417 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 GPI; HLN; GNP1; GNPI; GNPDA Summary Glucosamine-6-phosphate deaminase (EC 3.5.99.6) is an allosteric enzyme that catalyzes the reversible conversion of D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium (Arreola et al., 2003 [PubMed 12965206]).[supplied by OMIM, Jan 2010] Expression Ubiquitous expression in kidney (RPKM 29.0), urinary bladder (RPKM 18.6) and 24 other tissues See more Orthologs mouse all
GNPDA2, Official Symbol GNPDA2provided by HGNC Official Full Name glucosamine-6-phosphate deaminase 2provided by HGNC Primary source HGNC:HGNC:21526 See related Ensembl:ENSG00000163281 MIM:613222; AllianceGenome:HGNC:21526 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 GNP2; SB52 Summary The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] Expression Ubiquitous expression in ovary (RPKM 8.8), thyroid (RPKM 8.8) and 25 other tissues See more Orthologs mouse all