psui3905/ncbi_genes_summary huggingface dataset:
GATA6, Official Symbol GATA6provided by HGNC Official Full Name GATA binding protein 6provided by HGNC Primary source HGNC:HGNC:4174 See related Ensembl:ENSG00000141448 MIM:601656; AllianceGenome:HGNC:4174 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012] Expression Broad expression in stomach (RPKM 24.9), adrenal (RPKM 23.6) and 17 other tissues See more Orthologs mouse all
GATA6-AS1, Official Symbol GATA6-AS1provided by HGNC Official Full Name GATA6 antisense RNA 1 (head to head)provided by HGNC Primary source HGNC:HGNC:48840 See related Ensembl:ENSG00000266010 AllianceGenome:HGNC:48840 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 BM742401; locus5689 Expression Biased expression in stomach (RPKM 13.8), spleen (RPKM 8.6) and 9 other tissues See more
GATAD1, Official Symbol GATAD1provided by HGNC Official Full Name GATA zinc finger domain containing 1provided by HGNC Primary source HGNC:HGNC:29941 See related Ensembl:ENSG00000157259 MIM:614518; AllianceGenome:HGNC:29941 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 ODAG; CMD2B; RG083M05.2 Summary The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012] Expression Ubiquitous expression in thyroid (RPKM 8.0), endometrium (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
GATAD2A, Official Symbol GATAD2Aprovided by HGNC Official Full Name GATA zinc finger domain containing 2Aprovided by HGNC Primary source HGNC:HGNC:29989 See related Ensembl:ENSG00000167491 MIM:614997; AllianceGenome:HGNC:29989 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 p66alpha Summary Enables protein-macromolecule adaptor activity. Involved in negative regulation of transcription, DNA-templated. Located in nucleoplasm. Part of NuRD complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 18.1), spleen (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
GATAD2B, Official Symbol GATAD2Bprovided by HGNC Official Full Name GATA zinc finger domain containing 2Bprovided by HGNC Primary source HGNC:HGNC:30778 See related Ensembl:ENSG00000143614 MIM:614998; AllianceGenome:HGNC:30778 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 p68; GANDS; MRD18; P66beta Summary This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with cognitive disability. [provided by RefSeq, Jun 2016] Expression Ubiquitous expression in brain (RPKM 8.8), spleen (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
GATB, Official Symbol GATBprovided by HGNC Official Full Name glutamyl-tRNA amidotransferase subunit Bprovided by HGNC Primary source HGNC:HGNC:8849 See related Ensembl:ENSG00000059691 MIM:603645; AllianceGenome:HGNC:8849 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 PET112; COXPD41; HSPC199; PET112L Summary Enables glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined oxidative phosphorylation deficiency 41. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 11.7), kidney (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
GATC, Official Symbol GATCprovided by HGNC Official Full Name glutamyl-tRNA amidotransferase subunit Cprovided by HGNC Primary source HGNC:HGNC:25068 See related Ensembl:ENSG00000257218 MIM:617210; AllianceGenome:HGNC:25068 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 15E1.2; COXPD42 Summary Enables glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined oxidative phosphorylation deficiency 42. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 15.5), lymph node (RPKM 14.0) and 25 other tissues See more Orthologs mouse all
GATD1, Official Symbol GATD1provided by HGNC Official Full Name glutamine amidotransferase class 1 domain containing 1provided by HGNC Primary source HGNC:HGNC:26616 See related Ensembl:ENSG00000177225 AllianceGenome:HGNC:26616 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 PDDC1 Summary Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 7.5), brain (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
GATM, Official Symbol GATMprovided by HGNC Official Full Name glycine amidinotransferaseprovided by HGNC Primary source HGNC:HGNC:4175 See related Ensembl:ENSG00000171766 MIM:602360; AllianceGenome:HGNC:4175 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 AT; RFS; AGAT; FRTS; CCDS3; FRTS1 Summary This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 706.9), liver (RPKM 467.2) and 8 other tissues See more Orthologs mouse all
GAU1, Official Symbol GAU1provided by HGNC Official Full Name GALNT8 antisense upstream 1provided by HGNC Primary source HGNC:HGNC:53880 See related Ensembl:ENSG00000255474 AllianceGenome:HGNC:53880 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 GALNT8-DT Expression Biased expression in small intestine (RPKM 6.0), colon (RPKM 4.9) and 2 other tissues See more
GBA2, Official Symbol GBA2provided by HGNC Official Full Name glucosylceramidase beta 2provided by HGNC Primary source HGNC:HGNC:18986 See related Ensembl:ENSG00000070610 MIM:609471; AllianceGenome:HGNC:18986 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 AD035; SPG46; NLGase Summary This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in small intestine (RPKM 30.3), duodenum (RPKM 27.9) and 25 other tissues See more Orthologs mouse all
GBA3, Official Symbol GBA3provided by HGNC Official Full Name glucosylceramidase beta 3 (gene/pseudogene)provided by HGNC Primary source HGNC:HGNC:19069 See related Ensembl:ENSG00000249948 MIM:606619; AllianceGenome:HGNC:19069 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 CBG; GLUC; KLRP; CBGL1 Summary The protein encoded by this gene is a cytosolic enzyme that can hydrolyze several types of glycosides. The enzyme has its highest activity at neutral pH and is predominantly expressed in human liver, kidney, intestine, and spleen. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2022] Annotation information Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Biased expression in duodenum (RPKM 80.7), small intestine (RPKM 79.2) and 3 other tissues See more Orthologs all
GBE1, Official Symbol GBE1provided by HGNC Official Full Name 1,4-alpha-glucan branching enzyme 1provided by HGNC Primary source HGNC:HGNC:4180 See related Ensembl:ENSG00000114480 MIM:607839; AllianceGenome:HGNC:4180 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 GBE; APBD; GSD4 Summary The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 48.8), adrenal (RPKM 29.5) and 24 other tissues See more Orthologs mouse all
GBF1, Official Symbol GBF1provided by HGNC Official Full Name golgi brefeldin A resistant guanine nucleotide exchange factor 1provided by HGNC Primary source HGNC:HGNC:4181 See related Ensembl:ENSG00000107862 MIM:603698; AllianceGenome:HGNC:4181 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 CMT2GG; CMTDI2; CMTDIA; ARF1GEF Summary This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in testis (RPKM 18.0), brain (RPKM 12.4) and 25 other tissues See more Orthologs mouse all
GBGT1, Official Symbol GBGT1provided by HGNC Official Full Name globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)provided by HGNC Primary source HGNC:HGNC:20460 See related Ensembl:ENSG00000148288 MIM:606074; AllianceGenome:HGNC:20460 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 FS; A3GALNT; UNQ2513 Summary This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Expression Ubiquitous expression in placenta (RPKM 6.0), appendix (RPKM 5.4) and 24 other tissues See more Orthologs mouse all
GBP1, Official Symbol GBP1provided by HGNC Official Full Name guanylate binding protein 1provided by HGNC Primary source HGNC:HGNC:4182 See related Ensembl:ENSG00000117228 MIM:600411; AllianceGenome:HGNC:4182 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 hGBP1 Summary Guanylate binding protein expression is induced by interferon. Guanylate binding proteins are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP) and are distinguished from the GTP-binding proteins by the presence of 2 binding motifs rather than 3. [provided by RefSeq, Jul 2008] Expression Broad expression in appendix (RPKM 60.1), lymph node (RPKM 37.4) and 24 other tissues See more Orthologs all
GBP1P1, Official Symbol GBP1P1provided by HGNC Official Full Name guanylate binding protein 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39561 See related Ensembl:ENSG00000290525 AllianceGenome:HGNC:39561 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 LIMIT Expression Ubiquitous expression in lung (RPKM 3.1), appendix (RPKM 2.6) and 24 other tissues See more
GBP2, Official Symbol GBP2provided by HGNC Official Full Name guanylate binding protein 2provided by HGNC Primary source HGNC:HGNC:4183 See related Ensembl:ENSG00000162645 MIM:600412; AllianceGenome:HGNC:4183 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene belongs to the guanine-binding protein (GBP) family, which includes interferon-induced proteins that can bind to guanine nucleotides (GMP, GDP and GTP). The encoded protein is a GTPase which hydrolyzes GTP, predominantly to GDP. The protein may play a role as a marker of squamous cell carcinomas. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in appendix (RPKM 36.9), urinary bladder (RPKM 31.7) and 24 other tissues See more Orthologs all
GBP3, Official Symbol GBP3provided by HGNC Official Full Name guanylate binding protein 3provided by HGNC Primary source HGNC:HGNC:4184 See related Ensembl:ENSG00000117226 MIM:600413; AllianceGenome:HGNC:4184 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2017] Expression Broad expression in duodenum (RPKM 41.6), small intestine (RPKM 35.5) and 23 other tissues See more Orthologs all
GBP4, Official Symbol GBP4provided by HGNC Official Full Name guanylate binding protein 4provided by HGNC Primary source HGNC:HGNC:20480 See related Ensembl:ENSG00000162654 MIM:612466; AllianceGenome:HGNC:20480 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 Mpa2 Summary Guanylate-binding proteins, such as GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005 [PubMed 16108726]).[supplied by OMIM, Dec 2008] Expression Broad expression in lung (RPKM 16.3), lymph node (RPKM 13.8) and 23 other tissues See more Orthologs all
GBP5, Official Symbol GBP5provided by HGNC Official Full Name guanylate binding protein 5provided by HGNC Primary source HGNC:HGNC:19895 See related Ensembl:ENSG00000154451 MIM:611467; AllianceGenome:HGNC:19895 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 GBP-5 Summary This gene belongs to the TRAFAC class dynamin-like GTPase superfamily. The encoded protein acts as an activator of NLRP3 inflammasome assembly and has a role in innate immunity and inflammation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017] Expression Biased expression in appendix (RPKM 33.2), lymph node (RPKM 19.8) and 11 other tissues See more Orthologs all
GBP6, Official Symbol GBP6provided by HGNC Official Full Name guanylate binding protein family member 6provided by HGNC Primary source HGNC:HGNC:25395 See related Ensembl:ENSG00000183347 MIM:612467; AllianceGenome:HGNC:25395 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 Guanylate-binding proteins, such as GBP6, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008] Expression Restricted expression toward esophagus (RPKM 171.0) See more Orthologs all
GBP7, Official Symbol GBP7provided by HGNC Official Full Name guanylate binding protein 7provided by HGNC Primary source HGNC:HGNC:29606 See related Ensembl:ENSG00000213512 MIM:612468; AllianceGenome:HGNC:29606 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 GBP4L Summary Guanylate-binding proteins, such as GBP7, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008] Expression Biased expression in liver (RPKM 25.8) and lung (RPKM 0.3) See more Orthologs all
GBX1, Official Symbol GBX1provided by HGNC Official Full Name gastrulation brain homeobox 1provided by HGNC Primary source HGNC:HGNC:4185 See related Ensembl:ENSG00000164900 MIM:603354; AllianceGenome:HGNC:4185 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 Huh-17 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of nervous system development and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within adult walking behavior; neuron differentiation; and proprioception. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 2.3) See more Orthologs mouse all
GBX2, Official Symbol GBX2provided by HGNC Official Full Name gastrulation brain homeobox 2provided by HGNC Primary source HGNC:HGNC:4186 See related Ensembl:ENSG00000168505 MIM:601135; AllianceGenome:HGNC:4186 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 Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of nervous system development and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including branching involved in blood vessel morphogenesis; nervous system development; and neural crest cell migration. Predicted to be part of chromatin. 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
GC, Official Symbol GCprovided by HGNC Official Full Name GC vitamin D binding proteinprovided by HGNC Primary source HGNC:HGNC:4187 See related Ensembl:ENSG00000145321 MIM:139200; AllianceGenome:HGNC:4187 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 DBP; VDB; GRD3; VDBG; VDBP; GcMAF; DBP/GC; Gc-MAF; DBP-maf; HEL-S-51 Summary The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] Expression Restricted expression toward liver (RPKM 1264.0) See more Orthologs mouse all
GCA, Official Symbol GCAprovided by HGNC Official Full Name grancalcinprovided by HGNC Primary source HGNC:HGNC:15990 See related Ensembl:ENSG00000115271 MIM:607030; AllianceGenome:HGNC:15990 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 Summary This gene encodes a calcium-binding protein that is abundant in neutrophils and macrophages. In the absence of divalent cation, this protein localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions. Alternative splicing and use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Aug 2016] Expression Broad expression in bone marrow (RPKM 47.3), appendix (RPKM 18.4) and 18 other tissues See more Orthologs mouse all
GCAT, Official Symbol GCATprovided by HGNC Official Full Name glycine C-acetyltransferaseprovided by HGNC Primary source HGNC:HGNC:4188 See related Ensembl:ENSG00000100116 MIM:607422; AllianceGenome:HGNC:4188 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 KBL Summary The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010] Expression Ubiquitous expression in pancreas (RPKM 12.0), prostate (RPKM 8.4) and 24 other tissues See more Orthologs mouse all
GCATP1, Official Symbol GCATP1provided by HGNC Official Full Name glycine C-acetyltransferase pseudogene 1provided by HGNC Primary source HGNC:HGNC:20013 See related Ensembl:ENSG00000270878 AllianceGenome:HGNC:20013 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 GCATP
GCC1, Official Symbol GCC1provided by HGNC Official Full Name GRIP and coiled-coil domain containing 1provided by HGNC Primary source HGNC:HGNC:19095 See related Ensembl:ENSG00000179562 MIM:607418; AllianceGenome:HGNC:19095 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 GCC1P; GCC88 Summary The protein encoded by this gene is a peripheral membrane protein. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. It may play a role in the organization of trans-Golgi network subcompartment involved with membrane transport. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 9.0), bone marrow (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
GCC2, Official Symbol GCC2provided by HGNC Official Full Name GRIP and coiled-coil domain containing 2provided by HGNC Primary source HGNC:HGNC:23218 See related Ensembl:ENSG00000135968 MIM:612711; AllianceGenome:HGNC:23218 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 REN53; GCC185; RANBP2L4 Summary The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Expression Ubiquitous expression in gall bladder (RPKM 11.9), thyroid (RPKM 11.7) and 25 other tissues See more Orthologs mouse all
GCC2-AS1, Official Symbol GCC2-AS1provided by HGNC Official Full Name GCC2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:28126 See related Ensembl:ENSG00000214184 AllianceGenome:HGNC:28126 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 prostate (RPKM 2.1), colon (RPKM 2.0) and 25 other tissues See more
GCDH, Official Symbol GCDHprovided by HGNC Official Full Name glutaryl-CoA dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:4189 See related Ensembl:ENSG00000105607 MIM:608801; AllianceGenome:HGNC:4189 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 GCD; ACAD5 Summary The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013] Expression Ubiquitous expression in liver (RPKM 11.6), kidney (RPKM 10.0) and 25 other tissues See more Orthologs mouse all
GCFC2, Official Symbol GCFC2provided by HGNC Official Full Name GC-rich sequence DNA-binding factor 2provided by HGNC Primary source HGNC:HGNC:1317 See related Ensembl:ENSG00000005436 MIM:189901; AllianceGenome:HGNC:1317 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 GCF; TCF9; DNABF; C2orf3 Summary The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 5.0), testis (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
GCG, Official Symbol GCGprovided by HGNC Official Full Name glucagonprovided by HGNC Primary source HGNC:HGNC:4191 See related Ensembl:ENSG00000115263 MIM:138030; AllianceGenome:HGNC:4191 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 GLP1; GLP2; GRPP; GLP-1 Summary The protein encoded by this gene is actually a preproprotein that is cleaved into four distinct mature peptides. One of these, glucagon, is a pancreatic hormone that counteracts the glucose-lowering action of insulin by stimulating glycogenolysis and gluconeogenesis. Glucagon is a ligand for a specific G-protein linked receptor whose signalling pathway controls cell proliferation. Two of the other peptides are secreted from gut endocrine cells and promote nutrient absorption through distinct mechanisms. Finally, the fourth peptide is similar to glicentin, an active enteroglucagon. [provided by RefSeq, Jul 2008] Expression Biased expression in pancreas (RPKM 204.8), small intestine (RPKM 57.7) and 2 other tissues See more Orthologs mouse all
GCGR, Official Symbol GCGRprovided by HGNC Official Full Name glucagon receptorprovided by HGNC Primary source HGNC:HGNC:4192 See related Ensembl:ENSG00000215644 MIM:138033; AllianceGenome:HGNC:4192 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 GGR; GL-R; MVAH Summary The protein encoded by this gene is a glucagon receptor that is important in controlling blood glucose levels. Defects in this gene are a cause of non-insulin-dependent diabetes mellitus (NIDDM).[provided by RefSeq, Jan 2010] Expression Biased expression in liver (RPKM 10.3), kidney (RPKM 5.0) and 1 other tissue See more Orthologs mouse all
GCH1, Official Symbol GCH1provided by HGNC Official Full Name GTP cyclohydrolase 1provided by HGNC Primary source HGNC:HGNC:4193 See related Ensembl:ENSG00000131979 MIM:600225; AllianceGenome:HGNC:4193 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 GCH; DYT5; DYT14; DYT5a; GTPCH1; HPABH4B; GTP-CH-1 Summary This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 22.0), bone marrow (RPKM 9.4) and 19 other tissues See more Orthologs mouse all
GCHFR, Official Symbol GCHFRprovided by HGNC Official Full Name GTP cyclohydrolase I feedback regulatorprovided by HGNC Primary source HGNC:HGNC:4194 See related Ensembl:ENSG00000137880 MIM:602437; AllianceGenome:HGNC:4194 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 P35; GFRP; HsT16933 Summary GTP cyclohydrolase I feedback regulatory protein binds to and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase I. The regulatory protein, GCHFR, consists of a homodimer. It is postulated that GCHFR may play a role in regulating phenylalanine metabolism in the liver and in the production of biogenic amine neurotransmitters and nitric oxide. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 32.0), small intestine (RPKM 26.3) and 23 other tissues See more Orthologs mouse all
GCK, Official Symbol GCKprovided by HGNC Official Full Name glucokinaseprovided by HGNC Primary source HGNC:HGNC:4195 See related Ensembl:ENSG00000106633 MIM:138079; AllianceGenome:HGNC:4195 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 GK; GLK; HK4; HHF3; HKIV; HXKP; LGLK; MODY2; PNDM1; FGQTL3 Summary This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [provided by RefSeq, Aug 2017] Expression Low expression observed in reference dataset See more Orthologs mouse all
GCKR, Official Symbol GCKRprovided by HGNC Official Full Name glucokinase regulatorprovided by HGNC Primary source HGNC:HGNC:4196 See related Ensembl:ENSG00000084734 MIM:600842; AllianceGenome:HGNC:4196 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 GKRP; FGQTL5 Summary This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 19.0), stomach (RPKM 3.8) and 3 other tissues See more Orthologs mouse all
GCLC, Official Symbol GCLCprovided by HGNC Official Full Name glutamate-cysteine ligase catalytic subunitprovided by HGNC Primary source HGNC:HGNC:4311 See related Ensembl:ENSG00000001084 MIM:606857; AllianceGenome:HGNC:4311 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; GCS; GLCL; GLCLC Summary Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010] Expression Ubiquitous expression in liver (RPKM 39.8), urinary bladder (RPKM 19.1) and 24 other tissues See more Orthologs mouse all
GCLM, Official Symbol GCLMprovided by HGNC Official Full Name glutamate-cysteine ligase modifier subunitprovided by HGNC Primary source HGNC:HGNC:4312 See related Ensembl:ENSG00000023909 MIM:601176; AllianceGenome:HGNC:4312 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 GLCLR Summary Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] Expression Ubiquitous expression in liver (RPKM 13.0), thyroid (RPKM 9.9) and 24 other tissues See more Orthologs mouse all
GCM1, Official Symbol GCM1provided by HGNC Official Full Name glial cells missing transcription factor 1provided by HGNC Primary source HGNC:HGNC:4197 See related Ensembl:ENSG00000137270 MIM:603715; AllianceGenome:HGNC:4197 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 GCMA; hGCMa Summary This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. [provided by RefSeq, Jul 2008] Expression Biased expression in placenta (RPKM 5.9), testis (RPKM 0.6) and 1 other tissue See more Orthologs mouse all
GCM2, Official Symbol GCM2provided by HGNC Official Full Name glial cells missing transcription factor 2provided by HGNC Primary source HGNC:HGNC:4198 See related Ensembl:ENSG00000124827 MIM:603716; AllianceGenome:HGNC:4198 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 FIH2; GCMB; HRPT4; hGCMb Summary This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
GCN1, Official Symbol GCN1provided by HGNC Official Full Name GCN1 activator of EIF2AK4provided by HGNC Primary source HGNC:HGNC:4199 See related Ensembl:ENSG00000089154 MIM:605614; AllianceGenome:HGNC:4199 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 GCN1L; GCN1L1; PRIC295 Summary Enables RNA binding activity and cadherin binding activity. Predicted to be involved in cellular response to leucine starvation and positive regulation of transcription from RNA polymerase II promoter in response to stress. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 14.2), thyroid (RPKM 12.3) and 25 other tissues See more Orthologs mouse all
GCNA, Official Symbol GCNAprovided by HGNC Official Full Name germ cell nuclear acidic peptidaseprovided by HGNC Primary source HGNC:HGNC:15805 See related Ensembl:ENSG00000147174 MIM:300369; AllianceGenome:HGNC:15805 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 ACRC; NAAR1; SPGFX4 Summary Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 6.8), adrenal (RPKM 2.2) and 12 other tissues See more Orthologs all
GCNAP1, Official Symbol GCNAP1provided by HGNC Official Full Name GCNA pseudogene 1provided by HGNC Primary source HGNC:HGNC:52401 See related Ensembl:ENSG00000256912 AllianceGenome:HGNC:52401 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GCNT1, Official Symbol GCNT1provided by HGNC Official Full Name glucosaminyl (N-acetyl) transferase 1provided by HGNC Primary source HGNC:HGNC:4203 See related Ensembl:ENSG00000187210 MIM:600391; AllianceGenome:HGNC:4203 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 G6NT; C2GNT; C2GNT1; NACGT2; NAGCT2; C2GNT-L; C2GlcNAcT Summary This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] Expression Biased expression in duodenum (RPKM 20.0), stomach (RPKM 13.9) and 13 other tissues See more Orthologs mouse all
GCNT1P3, Official Symbol GCNT1P3provided by HGNC Official Full Name glucosaminyl (N-acetyl) transferase 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:37973 See related Ensembl:ENSG00000231047 AllianceGenome:HGNC:37973 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GCNT2, Official Symbol GCNT2provided by HGNC Official Full Name glucosaminyl (N-acetyl) transferase 2 (I blood group)provided by HGNC Primary source HGNC:HGNC:4204 See related Ensembl:ENSG00000111846 MIM:600429; AllianceGenome:HGNC:4204 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 II; CCAT; IGNT; ULG3; GCNT5; GCNT2C; NACGT1; NAGCT1; CTRCT13; bA421M1.1; bA360O19.2 Summary This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Broad expression in prostate (RPKM 6.7), small intestine (RPKM 2.4) and 21 other tissues See more Orthologs mouse all
GCNT3, Official Symbol GCNT3provided by HGNC Official Full Name glucosaminyl (N-acetyl) transferase 3, mucin typeprovided by HGNC Primary source HGNC:HGNC:4205 See related Ensembl:ENSG00000140297 MIM:606836; AllianceGenome:HGNC:4205 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 GNTM; C24GNT; C2GNT2; C2GNTM; C2/4GnT Summary This gene encodes a member of the N-acetylglucosaminyltransferase family. The encoded protein is a beta-6-N-acetylglucosamine-transferase that catalyzes the formation of core 2 and core 4 O-glycans on mucin-type glycoproteins.[provided by RefSeq, Apr 2009] Expression Biased expression in colon (RPKM 74.9), small intestine (RPKM 64.2) and 7 other tissues See more Orthologs mouse all