psui3905/ncbi_genes_summary huggingface dataset:
GLRB, Official Symbol GLRBprovided by HGNC Official Full Name glycine receptor betaprovided by HGNC Primary source HGNC:HGNC:4329 See related Ensembl:ENSG00000109738 MIM:138492; AllianceGenome:HGNC:4329 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 HKPX2 Summary This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. Mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Biased expression in brain (RPKM 13.2), salivary gland (RPKM 2.5) and 10 other tissues See more Orthologs mouse all
GLRX, Official Symbol GLRXprovided by HGNC Official Full Name glutaredoxinprovided by HGNC Primary source HGNC:HGNC:4330 See related Ensembl:ENSG00000173221 MIM:600443; AllianceGenome:HGNC:4330 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 GRX; GRX1 Summary This gene encodes a member of the glutaredoxin family. The encoded protein is a cytoplasmic enzyme catalyzing the reversible reduction of glutathione-protein mixed disulfides. This enzyme highly contributes to the antioxidant defense system. It is crucial for several signalling pathways by controlling the S-glutathionylation status of signalling mediators. It is involved in beta-amyloid toxicity and Alzheimer's disease. Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2011] Expression Broad expression in kidney (RPKM 54.1), small intestine (RPKM 45.6) and 22 other tissues See more Orthologs mouse all
GLRX2, Official Symbol GLRX2provided by HGNC Official Full Name glutaredoxin 2provided by HGNC Primary source HGNC:HGNC:16065 See related Ensembl:ENSG00000023572 MIM:606820; AllianceGenome:HGNC:16065 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 GRX2; CGI-133 Summary The protein encoded by this gene is a member of the glutaredoxin family of proteins, which maintain cellular thiol homeostasis. These proteins are thiol-disulfide oxidoreductases that use a glutathione-binding site and one or two active cysteines in their active site. This gene undergoes alternative splicing to produce multiple isoforms, one of which is ubiquitously expressed and localizes to mitochondria, where it functions in mitochondrial redox homeostasis and is important for the protection against and recovery from oxidative stress. Other isoforms, which have more restrictive expression patterns, show cytosolic and nuclear localization, and are thought to function in cellular differentiation and transformation, possibly with a role in tumor progression. [provided by RefSeq, Aug 2011] Expression Broad expression in testis (RPKM 15.8), prostate (RPKM 7.2) and 24 other tissues See more Orthologs mouse all
GLRX3, Official Symbol GLRX3provided by HGNC Official Full Name glutaredoxin 3provided by HGNC Primary source HGNC:HGNC:15987 See related Ensembl:ENSG00000108010 MIM:612754; AllianceGenome:HGNC:15987 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 GRX3; GRX4; GLRX4; PICOT; TXNL2; TXNL3 Summary This gene encodes a member of the glutaredoxin family. Glutaredoxins are oxidoreductase enzymes that reduce a variety of substrates using glutathione as a cofactor. The encoded protein binds to and modulates the function of protein kinase C theta. The encoded protein may also inhibit apoptosis and play a role in cellular growth, and the expression of this gene may be a marker for cancer. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in testis (RPKM 12.3), lymph node (RPKM 8.3) and 25 other tissues See more Orthologs mouse all
GLRX3P2, Official Symbol GLRX3P2provided by HGNC Official Full Name glutaredoxin 3 pseudogene 2provided by HGNC Primary source HGNC:HGNC:49788 See related AllianceGenome:HGNC:49788 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GLRX5, Official Symbol GLRX5provided by HGNC Official Full Name glutaredoxin 5provided by HGNC Primary source HGNC:HGNC:20134 See related Ensembl:ENSG00000182512 MIM:609588; AllianceGenome:HGNC:20134 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 GRX5; PRSA; SIDBA3; SPAHGC; FLB4739; PR01238; PRO1238; C14orf87 Summary This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010] Expression Ubiquitous expression in bone marrow (RPKM 64.9), kidney (RPKM 37.3) and 25 other tissues See more Orthologs mouse all
GLRX5P2, Official Symbol GLRX5P2provided by HGNC Official Full Name GLR5 pseudogene 2provided by HGNC Primary source HGNC:HGNC:55063 See related Ensembl:ENSG00000232879 AllianceGenome:HGNC:55063 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GLS, Official Symbol GLSprovided by HGNC Official Full Name glutaminaseprovided by HGNC Primary source HGNC:HGNC:4331 See related Ensembl:ENSG00000115419 MIM:138280; AllianceGenome:HGNC:4331 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 GAC; GAM; KGA; GLS1; AAD20; DEE71; GDPAG; CASGID; EIEE71 Summary This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] Expression Broad expression in kidney (RPKM 48.0), small intestine (RPKM 21.8) and 22 other tissues See more Orthologs mouse all
GLS2, Official Symbol GLS2provided by HGNC Official Full Name glutaminase 2provided by HGNC Primary source HGNC:HGNC:29570 See related Ensembl:ENSG00000135423 MIM:606365; AllianceGenome:HGNC:29570 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 GA; GLS; LGA; hLGA Summary The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013] Expression Biased expression in liver (RPKM 39.1), brain (RPKM 4.2) and 2 other tissues See more Orthologs mouse all
GLT1D1, Official Symbol GLT1D1provided by HGNC Official Full Name glycosyltransferase 1 domain containing 1provided by HGNC Primary source HGNC:HGNC:26483 See related Ensembl:ENSG00000151948 AllianceGenome:HGNC:26483 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 glycosyltransferase activity. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 6.9), bone marrow (RPKM 6.4) and 9 other tissues See more Orthologs mouse all
GLT6D1, Official Symbol GLT6D1provided by HGNC Official Full Name glycosyltransferase 6 domain containing 1provided by HGNC Primary source HGNC:HGNC:23671 See related Ensembl:ENSG00000204007 MIM:613699; AllianceGenome:HGNC:23671 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 GT6M7; GLTDC1 Summary The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011] Expression Restricted expression toward testis (RPKM 2.0) See more Orthologs mouse all
GLT8D1, Official Symbol GLT8D1provided by HGNC Official Full Name glycosyltransferase 8 domain containing 1provided by HGNC Primary source HGNC:HGNC:24870 See related Ensembl:ENSG00000016864 MIM:618399; AllianceGenome:HGNC:24870 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 AD-017; MSTP139 Summary This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013] Expression Ubiquitous expression in thyroid (RPKM 29.7), testis (RPKM 28.8) and 25 other tissues See more Orthologs mouse all
GLT8D2, Official Symbol GLT8D2provided by HGNC Official Full Name glycosyltransferase 8 domain containing 2provided by HGNC Primary source HGNC:HGNC:24890 See related Ensembl:ENSG00000120820 AllianceGenome:HGNC:24890 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 glycosyltransferase activity. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in gall bladder (RPKM 16.0), ovary (RPKM 13.7) and 21 other tissues See more Orthologs mouse all
GLTP, Official Symbol GLTPprovided by HGNC Official Full Name glycolipid transfer proteinprovided by HGNC Primary source HGNC:HGNC:24867 See related Ensembl:ENSG00000139433 MIM:608949; AllianceGenome:HGNC:24867 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 similar to bovine and porcine proteins which accelerate transfer of certain glycosphingolipids and glyceroglycolipids between membranes. It is thought to be a cytoplasmic protein. [provided by RefSeq, Jul 2008] Expression Broad expression in esophagus (RPKM 87.8), skin (RPKM 85.1) and 23 other tissues See more Orthologs mouse all
GLTPD2, Official Symbol GLTPD2provided by HGNC Official Full Name glycolipid transfer protein domain containing 2provided by HGNC Primary source HGNC:HGNC:33756 See related Ensembl:ENSG00000182327 AllianceGenome:HGNC:33756 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 ceramide 1-phosphate binding activity and ceramide 1-phosphate transfer activity. Predicted to be involved in ceramide transport and intermembrane lipid transfer. Predicted to be active in cytosol and membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 11.7), liver (RPKM 8.5) and 4 other tissues See more Orthologs mouse all
GLUD1, Official Symbol GLUD1provided by HGNC Official Full Name glutamate dehydrogenase 1provided by HGNC Primary source HGNC:HGNC:4335 See related Ensembl:ENSG00000148672 MIM:138130; AllianceGenome:HGNC:4335 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 GDH; GDH1; GLUD; hGDH1 Summary This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in liver (RPKM 169.1), kidney (RPKM 95.6) and 24 other tissues See more Orthologs mouse all
GLUD1P2, Official Symbol GLUD1P2provided by HGNC Official Full Name glutamate dehydrogenase 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:4337 See related Ensembl:ENSG00000290875 AllianceGenome:HGNC:4337 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GLUDP2; GLUDP7; GLUD1P7 Expression Broad expression in liver (RPKM 3.6), kidney (RPKM 3.5) and 25 other tissues See more
GLUD2, Official Symbol GLUD2provided by HGNC Official Full Name glutamate dehydrogenase 2provided by HGNC Primary source HGNC:HGNC:4336 See related Ensembl:ENSG00000182890 MIM:300144; AllianceGenome:HGNC:4336 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 GDH2; GLUDP1 Summary The protein encoded by this gene is localized to the mitochondrion and acts as a homohexamer to recycle glutamate during neurotransmission. The encoded enzyme catalyzes the reversible oxidative deamination of glutamate to alpha-ketoglutarate. This gene is intronless.[provided by RefSeq, Jan 2010] Orthologs all
GLUL, Official Symbol GLULprovided by HGNC Official Full Name glutamate-ammonia ligaseprovided by HGNC Primary source HGNC:HGNC:4341 See related Ensembl:ENSG00000135821 MIM:138290; AllianceGenome:HGNC:4341 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 GS; GLNS; PIG43; PIG59 Summary The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in fat (RPKM 227.2), brain (RPKM 128.5) and 24 other tissues See more Orthologs mouse all
GLULP3, Official Symbol GLULP3provided by HGNC Official Full Name glutamate-ammonia ligase pseudogene 3provided by HGNC Primary source HGNC:HGNC:4344 See related AllianceGenome:HGNC:4344 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 GLULL3
GLULP4, Official Symbol GLULP4provided by HGNC Official Full Name glutamate-ammonia ligase pseudogene 4provided by HGNC Primary source HGNC:HGNC:4345 See related Ensembl:ENSG00000178723 AllianceGenome:HGNC:4345 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 GLULP
GLULP6, Official Symbol GLULP6provided by HGNC Official Full Name glutamate-ammonia ligase pseudogene 6provided by HGNC Primary source HGNC:HGNC:37990 See related Ensembl:ENSG00000215043 AllianceGenome:HGNC:37990 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GLYAT, Official Symbol GLYATprovided by HGNC Official Full Name glycine-N-acyltransferaseprovided by HGNC Primary source HGNC:HGNC:13734 See related Ensembl:ENSG00000149124 MIM:607424; AllianceGenome:HGNC:13734 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 CAT; GAT; ACGNAT Summary The glycine-N-acyltransferase protein conjugates glycine with acyl-CoA substrates in the mitochondria. The protein is thought to be important in the detoxification of endogenous and xenobiotic acyl-CoA's. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 86.1), liver (RPKM 53.7) and 1 other tissue See more Orthologs all
GLYATL1, Official Symbol GLYATL1provided by HGNC Official Full Name glycine-N-acyltransferase like 1provided by HGNC Primary source HGNC:HGNC:30519 See related Ensembl:ENSG00000166840 MIM:614761; AllianceGenome:HGNC:30519 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 GNAT; GATF-C Summary Enables glutamine N-acyltransferase activity. Involved in glutamine metabolic process. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 74.7), liver (RPKM 64.2) and 1 other tissue See more Orthologs all
GLYATL1B, Official Symbol GLYATL1Bprovided by HGNC Official Full Name glycine-N-acyltransferase like 1Bprovided by HGNC Primary source HGNC:HGNC:37865 See related Ensembl:ENSG00000255151 AllianceGenome:HGNC:37865 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 GLYATL1P3 Summary Predicted to enable glutamine N-acyltransferase activity. Predicted to be involved in glutamine metabolic process. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
GLYATL1P1, Official Symbol GLYATL1P1provided by HGNC Official Full Name glycine-N-acyltransferase like 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:37866 See related Ensembl:ENSG00000255189 AllianceGenome:HGNC:37866 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GLYATL1P2, Official Symbol GLYATL1P2provided by HGNC Official Full Name glycine-N-acyltransferase like 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:37863 See related Ensembl:ENSG00000254717 AllianceGenome:HGNC:37863 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GLYATL2, Official Symbol GLYATL2provided by HGNC Official Full Name glycine-N-acyltransferase like 2provided by HGNC Primary source HGNC:HGNC:24178 See related Ensembl:ENSG00000156689 MIM:614762; AllianceGenome:HGNC:24178 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 GATF-B; BXMAS2-10 Summary Enables glycine N-acyltransferase activity. Involved in long-chain fatty acid catabolic process; medium-chain fatty acid catabolic process; and monounsaturated fatty acid catabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in gall bladder (RPKM 3.1), salivary gland (RPKM 1.2) and 5 other tissues See more Orthologs all
GLYATL3, Official Symbol GLYATL3provided by HGNC Official Full Name glycine-N-acyltransferase like 3provided by HGNC Primary source HGNC:HGNC:21349 See related Ensembl:ENSG00000203972 MIM:614763; AllianceGenome:HGNC:21349 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 C6orf140; bA28H17.2 Summary Predicted to enable glycine N-acyltransferase activity. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
GLYCAM1, Official Symbol GLYCAM1provided by HGNC Official Full Name glycosylation dependent cell adhesion molecule 1 (pseudogene)provided by HGNC Primary source HGNC:HGNC:18023 See related Ensembl:ENSG00000257780 AllianceGenome:HGNC:18023 Gene type pseudo 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 cell adhesion molecule binding activity and sulfate binding activity. Predicted to act upstream of or within response to bacterium. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
GLYCTK, Official Symbol GLYCTKprovided by HGNC Official Full Name glycerate kinaseprovided by HGNC Primary source HGNC:HGNC:24247 See related Ensembl:ENSG00000168237 MIM:610516; AllianceGenome:HGNC:24247 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 HBEBP2; HBEBP4; HBeAgBP4A Summary This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009] Expression Broad expression in liver (RPKM 19.7), duodenum (RPKM 15.1) and 14 other tissues See more Orthologs mouse all
GLYR1, Official Symbol GLYR1provided by HGNC Official Full Name glyoxylate reductase 1 homologprovided by HGNC Primary source HGNC:HGNC:24434 See related Ensembl:ENSG00000140632 MIM:610660; AllianceGenome:HGNC:24434 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 NP60; NPAC; hNDF; BM045; HIBDL; N-PAC Summary Enables DNA binding activity; methylated histone binding activity; and nucleosome binding activity. Involved in positive regulation of histone acetylation and positive regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. Part of nucleosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 24.0), brain (RPKM 23.5) and 25 other tissues See more Orthologs mouse all
GM2A, Official Symbol GM2Aprovided by HGNC Official Full Name ganglioside GM2 activatorprovided by HGNC Primary source HGNC:HGNC:4367 See related Ensembl:ENSG00000196743 MIM:613109; AllianceGenome:HGNC:4367 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 GM2AP; SAP-3; GM2-AP Summary This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] Expression Ubiquitous expression in skin (RPKM 39.8), placenta (RPKM 38.5) and 24 other tissues See more Orthologs mouse all
GM2AP2, Official Symbol GM2AP2provided by HGNC Official Full Name GM2A pseudogene 2provided by HGNC Primary source HGNC:HGNC:38002 See related Ensembl:ENSG00000239428 AllianceGenome:HGNC:38002 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GMCL1, Official Symbol GMCL1provided by HGNC Official Full Name germ cell-less 1, spermatogenesis associatedprovided by HGNC Primary source HGNC:HGNC:23843 See related Ensembl:ENSG00000087338 MIM:618627; AllianceGenome:HGNC:23843 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 GCL; GCL1; BTBD13; SPATA29 Summary This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 10.7), duodenum (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
GMCL1P2, Official Symbol GMCL1P2provided by HGNC Official Full Name GMCL1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:42863 See related Ensembl:ENSG00000271070 AllianceGenome:HGNC:42863 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GMCL2, Official Symbol GMCL2provided by HGNC Official Full Name germ cell-less 2, spermatogenesis associatedprovided by HGNC Primary source HGNC:HGNC:19717 See related Ensembl:ENSG00000244234 MIM:618629; AllianceGenome:HGNC:19717 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 GCL; GMCL1L; GMCL1P1 Summary This locus shares a high degree of identity with the multi-exon germ cell-less gene on chromosome 2. Despite its single-exon nature, this chromosome 5 locus contains an open reading frame that could putatively encode a full-length germ cell-less related protein. [provided by RefSeq, Jul 2008] Orthologs all
GMDS, Official Symbol GMDSprovided by HGNC Official Full Name GDP-mannose 4,6-dehydrataseprovided by HGNC Primary source HGNC:HGNC:4369 See related Ensembl:ENSG00000112699 MIM:602884; AllianceGenome:HGNC:4369 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 GMD; SDR3E1 Summary GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009] Expression Broad expression in colon (RPKM 6.8), stomach (RPKM 6.6) and 23 other tissues See more Orthologs mouse all
GMDS-DT, Official Symbol GMDS-DTprovided by HGNC Official Full Name GMDS divergent transcriptprovided by HGNC Primary source HGNC:HGNC:48993 See related Ensembl:ENSG00000250903 AllianceGenome:HGNC:48993 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 GMDS-AS1 Expression Ubiquitous expression in thyroid (RPKM 1.9), prostate (RPKM 1.4) and 25 other tissues See more
GMEB1, Official Symbol GMEB1provided by HGNC Official Full Name glucocorticoid modulatory element binding protein 1provided by HGNC Primary source HGNC:HGNC:4370 See related Ensembl:ENSG00000162419 MIM:604409; AllianceGenome:HGNC:4370 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 PIF96; P96PIF Summary This gene encodes a member of KDWK gene family which associates with GMEB2 protein. The GMEB1-GMEB2 complex is essential for parvovirus DNA replication. Studies in rat for a similar gene suggest that this gene's role is to modulate the transactivation of the glucocorticoid receptor when it is bound to glucocorticoid response elements. Three alternative spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in bone marrow (RPKM 4.0), testis (RPKM 3.2) and 25 other tissues See more Orthologs mouse all
GMEB2, Official Symbol GMEB2provided by HGNC Official Full Name glucocorticoid modulatory element binding protein 2provided by HGNC Primary source HGNC:HGNC:4371 See related Ensembl:ENSG00000101216 MIM:607451; AllianceGenome:HGNC:4371 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 PIF79; GMEB-2; P79PIF Summary This gene is a member of KDWK gene family. The product of this gene associates with GMEB1 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. This gene appears to use multiple polyadenylation sites. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 6.7), testis (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
GMFB, Official Symbol GMFBprovided by HGNC Official Full Name glia maturation factor betaprovided by HGNC Primary source HGNC:HGNC:4373 See related Ensembl:ENSG00000197045 MIM:601713; AllianceGenome:HGNC:4373 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 GMF Summary Predicted to enable Arp2/3 complex binding activity. Predicted to be involved in actin filament debranching and negative regulation of Arp2/3 complex-mediated actin nucleation. Predicted to act upstream of or within learning and locomotory behavior. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 45.0), colon (RPKM 21.0) and 24 other tissues See more Orthologs mouse all
GMFG, Official Symbol GMFGprovided by HGNC Official Full Name glia maturation factor gammaprovided by HGNC Primary source HGNC:HGNC:4374 See related Ensembl:ENSG00000130755 MIM:604104; AllianceGenome:HGNC:4374 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 GMF-GAMMA Summary Predicted to enable Arp2/3 complex binding activity. Predicted to be involved in actin filament debranching and negative regulation of Arp2/3 complex-mediated actin nucleation. Predicted to be located in extracellular region; ficolin-1-rich granule lumen; and secretory granule lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 133.3), spleen (RPKM 93.4) and 15 other tissues See more Orthologs mouse all
GMIP, Official Symbol GMIPprovided by HGNC Official Full Name GEM interacting proteinprovided by HGNC Primary source HGNC:HGNC:24852 See related Ensembl:ENSG00000089639 MIM:609694; AllianceGenome:HGNC:24852 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 ARHGAP46 Summary This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Broad expression in spleen (RPKM 20.3), bone marrow (RPKM 16.1) and 21 other tissues See more Orthologs mouse all
GML, Official Symbol GMLprovided by HGNC Official Full Name glycosylphosphatidylinositol anchored molecule likeprovided by HGNC Primary source HGNC:HGNC:4375 See related Ensembl:ENSG00000104499 MIM:602370; AllianceGenome:HGNC:4375 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 LY6DL Summary Predicted to be involved in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; and negative regulation of cell population proliferation. Predicted to be extrinsic component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
GMNC, Official Symbol GMNCprovided by HGNC Official Full Name geminin coiled-coil domain containingprovided by HGNC Primary source HGNC:HGNC:40049 See related Ensembl:ENSG00000205835 MIM:614448; AllianceGenome:HGNC:40049 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 GEMC1 Summary Predicted to enable chromatin binding activity. Predicted to be involved in DNA replication; negative regulation of DNA replication; and negative regulation of cell cycle. Predicted to act upstream of or within cilium assembly. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
GMNN, Official Symbol GMNNprovided by HGNC Official Full Name geminin DNA replication inhibitorprovided by HGNC Primary source HGNC:HGNC:17493 See related Ensembl:ENSG00000112312 MIM:602842; AllianceGenome:HGNC:17493 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 Gem; MGORS6 Summary This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in bone marrow (RPKM 7.1), testis (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
GMPPA, Official Symbol GMPPAprovided by HGNC Official Full Name GDP-mannose pyrophosphorylase Aprovided by HGNC Primary source HGNC:HGNC:22923 See related Ensembl:ENSG00000144591 MIM:615495; AllianceGenome:HGNC:22923 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 AAMR Summary This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 13.3), prostate (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
GMPPB, Official Symbol GMPPBprovided by HGNC Official Full Name GDP-mannose pyrophosphorylase Bprovided by HGNC Primary source HGNC:HGNC:22932 See related Ensembl:ENSG00000173540 MIM:615320; AllianceGenome:HGNC:22932 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 LGMDR19; MDDGA14; MDDGB14; MDDGC14 Summary This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009] Expression Ubiquitous expression in thyroid (RPKM 16.4), prostate (RPKM 14.9) and 25 other tissues See more Orthologs mouse all
GMPR, Official Symbol GMPRprovided by HGNC Official Full Name guanosine monophosphate reductaseprovided by HGNC Primary source HGNC:HGNC:4376 See related Ensembl:ENSG00000137198 MIM:139265; AllianceGenome:HGNC:4376 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 GMPR1; GMPR 1 Summary This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[provided by RefSeq, Oct 2009] Expression Broad expression in prostate (RPKM 33.0), testis (RPKM 29.5) and 19 other tissues See more Orthologs mouse all
GMPR2, Official Symbol GMPR2provided by HGNC Official Full Name guanosine monophosphate reductase 2provided by HGNC Primary source HGNC:HGNC:4377 See related Ensembl:ENSG00000100938 MIM:610781; AllianceGenome:HGNC:4377 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 GMPR 2 Summary This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP). The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in thyroid (RPKM 24.5), kidney (RPKM 21.7) and 25 other tissues See more Orthologs mouse all
GMPS, Official Symbol GMPSprovided by HGNC Official Full Name guanine monophosphate synthaseprovided by HGNC Primary source HGNC:HGNC:4378 See related Ensembl:ENSG00000163655 MIM:600358; AllianceGenome:HGNC:4378 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 GATD7 Summary In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 20.3), thyroid (RPKM 6.3) and 25 other tissues See more Orthologs mouse all
GMPSP1, Official Symbol GMPSP1provided by HGNC Official Full Name guanine monophosphate synthase pseudogene 1provided by HGNC Primary source HGNC:HGNC:39428 See related Ensembl:ENSG00000250471 AllianceGenome:HGNC:39428 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GNA11, Official Symbol GNA11provided by HGNC Official Full Name G protein subunit alpha 11provided by HGNC Primary source HGNC:HGNC:4379 See related Ensembl:ENSG00000088256 MIM:139313; AllianceGenome:HGNC:4379 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 FBH; FBH2; FHH2; HG1K; HHC2; GNA-11; HYPOC2 Summary The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013] Expression Broad expression in small intestine (RPKM 57.6), duodenum (RPKM 46.4) and 23 other tissues See more Orthologs mouse all
GNA12, Official Symbol GNA12provided by HGNC Official Full Name G protein subunit alpha 12provided by HGNC Primary source HGNC:HGNC:4380 See related Ensembl:ENSG00000146535 MIM:604394; AllianceGenome:HGNC:4380 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 RMP; gep; NNX3; HG1M1 Summary Predicted to enable D5 dopamine receptor binding activity; G-protein beta/gamma-subunit complex binding activity; and GTPase activity. Involved in regulation of TOR signaling and regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in focal adhesion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 20.5), ovary (RPKM 16.5) and 25 other tissues See more Orthologs mouse all
GNA13, Official Symbol GNA13provided by HGNC Official Full Name G protein subunit alpha 13provided by HGNC Primary source HGNC:HGNC:4381 See related Ensembl:ENSG00000120063 MIM:604406; AllianceGenome:HGNC:4381 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 G13; HG1N Summary Predicted to enable D5 dopamine receptor binding activity; G-protein beta/gamma-subunit complex binding activity; and GTPase activity. Predicted to be involved in several processes, including Rho protein signal transduction; activation of phospholipase D activity; and multicellular organism aging. Predicted to act upstream of or within several processes, including branching involved in blood vessel morphogenesis; negative regulation of vascular associated smooth muscle cell migration; and negative regulation of vascular associated smooth muscle cell proliferation. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 46.2), lymph node (RPKM 22.6) and 24 other tissues See more Orthologs mouse all