psui3905/ncbi_genes_summary huggingface dataset:
GCNT4, Official Symbol GCNT4provided by HGNC Official Full Name glucosaminyl (N-acetyl) transferase 4provided by HGNC Primary source HGNC:HGNC:17973 See related Ensembl:ENSG00000176928 MIM:616782; AllianceGenome:HGNC:17973 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 C2GNT3; LINC01336 Summary Predicted to enable acetylglucosaminyltransferase activity. Predicted to be involved in O-glycan processing and carbohydrate metabolic process. Predicted to act upstream of or within several processes, including inter-male aggressive behavior; kidney morphogenesis; and thyroid hormone metabolic process. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
GCNT7, Official Symbol GCNT7provided by HGNC Official Full Name glucosaminyl (N-acetyl) transferase family member 7provided by HGNC Primary source HGNC:HGNC:16099 See related Ensembl:ENSG00000124091 AllianceGenome:HGNC:16099 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 gcnt; C20orf105; dJ1153D9.2 Summary Predicted to enable acetylglucosaminyltransferase activity. Predicted to be involved in protein glycosylation. Predicted to be located in Golgi membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Annotation category: suggests misassembly Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Biased expression in testis (RPKM 2.8), bone marrow (RPKM 1.8) and 2 other tissues See more Orthologs all
GCOM1, Official Symbol GCOM1provided by HGNC Official Full Name GCOM1, MYZAP-POLR2M combined locusprovided by HGNC Primary source HGNC:HGNC:26424 See related Ensembl:ENSG00000137878 AllianceGenome:HGNC:26424 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 gcom; Gcom2; MYZAP; GRINL1A; MYZAP-POLR2M Summary This locus represents naturally occurring readthrough transcription between the neighboring MYZAP (myocardial zonula adherens protein) and POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) genes on chromosome 15. Alternative splicing results in multiple readthrough transcript variants. Readthrough variants may encode proteins that share sequence identity with the upstream gene product or with both the upstream and downstream gene products. Some readthrough transcript variants are also expected to be candidates for nonsense-mediated decay (NMD). [provided by RefSeq, Oct 2013] Expression Broad expression in heart (RPKM 68.6), fat (RPKM 23.0) and 23 other tissues See more Orthologs all
GCSAM, Official Symbol GCSAMprovided by HGNC Official Full Name germinal center associated signaling and motilityprovided by HGNC Primary source HGNC:HGNC:20253 See related Ensembl:ENSG00000174500 MIM:607792; AllianceGenome:HGNC:20253 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 HGAL; GCAT2; GCET2 Summary This gene encodes a protein which may function in signal transduction pathways and whose expression is elevated in germinal cell lymphomas. It contains a putative PDZ-interacting domain, an immunoreceptor tyrosine-based activation motif (ITAM), and two putative SH2 binding sites. In B cells, its expression is specifically induced by interleukin-4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Biased expression in lymph node (RPKM 14.9), skin (RPKM 5.8) and 13 other tissues See more Orthologs mouse all
GCSAML, Official Symbol GCSAMLprovided by HGNC Official Full Name germinal center associated signaling and motility likeprovided by HGNC Primary source HGNC:HGNC:29583 See related Ensembl:ENSG00000169224 AllianceGenome:HGNC:29583 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 C1orf150 Summary This gene encodes a protein thought to be a signaling molecule associated with germinal centers, the sites of proliferation and differentiation of mature B lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Broad expression in prostate (RPKM 1.7), testis (RPKM 1.5) and 15 other tissues See more Orthologs all
GCSH, Official Symbol GCSHprovided by HGNC Official Full Name glycine cleavage system protein Hprovided by HGNC Primary source HGNC:HGNC:4208 See related Ensembl:ENSG00000140905 MIM:238330; AllianceGenome:HGNC:4208 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 GCE; NKH; MMDS7 Summary Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010] Expression Broad expression in thyroid (RPKM 44.9), kidney (RPKM 31.4) and 23 other tissues See more Orthologs mouse all
GCSHP2, Official Symbol GCSHP2provided by HGNC Official Full Name GCSH pseudogene 2provided by HGNC Primary source HGNC:HGNC:43927 See related Ensembl:ENSG00000259525 AllianceGenome:HGNC:43927 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GCSHP5, Official Symbol GCSHP5provided by HGNC Official Full Name GCSH pseudogene 5provided by HGNC Primary source HGNC:HGNC:44195 See related AllianceGenome:HGNC:44195 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GCSIR, Official Symbol GCSIRprovided by HGNC Official Full Name GPR55 cis regulatory suppressor of immune response RNAprovided by HGNC Primary source HGNC:HGNC:54400 See related Ensembl:ENSG00000232520 AllianceGenome:HGNC:54400 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 Lnc-ITM2C-1 Expression Low expression observed in reference dataset See more
GDA, Official Symbol GDAprovided by HGNC Official Full Name guanine deaminaseprovided by HGNC Primary source HGNC:HGNC:4212 See related Ensembl:ENSG00000119125 MIM:139260; AllianceGenome:HGNC:4212 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 GAH; CYPIN; GUANASE; NEDASIN Summary This gene encodes an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Expression Biased expression in small intestine (RPKM 33.5), duodenum (RPKM 32.2) and 6 other tissues See more Orthologs mouse all
GDAP1, Official Symbol GDAP1provided by HGNC Official Full Name ganglioside induced differentiation associated protein 1provided by HGNC Primary source HGNC:HGNC:15968 See related Ensembl:ENSG00000104381 MIM:606598; AllianceGenome:HGNC:15968 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 CMT4; CMT4A; CMTRIA Summary This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012] Expression Broad expression in brain (RPKM 21.7), adrenal (RPKM 4.4) and 14 other tissues See more Orthologs mouse all
GDAP1L1, Official Symbol GDAP1L1provided by HGNC Official Full Name ganglioside induced differentiation associated protein 1 like 1provided by HGNC Primary source HGNC:HGNC:4213 See related Ensembl:ENSG00000124194 AllianceGenome:HGNC:4213 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 dJ881L22.1; dJ995J12.1.1 Summary The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different isoforms, as well as a noncoding transcript variant, have been found for this gene. [provided by RefSeq, Feb 2012] Expression Biased expression in brain (RPKM 7.9), adrenal (RPKM 0.4) and 1 other tissue See more Orthologs mouse all
GDAP2, Official Symbol GDAP2provided by HGNC Official Full Name ganglioside induced differentiation associated protein 2provided by HGNC Primary source HGNC:HGNC:18010 See related Ensembl:ENSG00000196505 MIM:618128; AllianceGenome:HGNC:18010 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 SCAR27; MACROD3 Summary Predicted to act upstream of or within response to retinoic acid. Located in lysosomal membrane. Implicated in autosomal recessive spinocerebellar ataxia 27. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 1.6), thyroid (RPKM 1.3) and 25 other tissues See more Orthologs mouse all
GDE1, Official Symbol GDE1provided by HGNC Official Full Name glycerophosphodiester phosphodiesterase 1provided by HGNC Primary source HGNC:HGNC:29644 See related Ensembl:ENSG00000006007 MIM:605943; AllianceGenome:HGNC:29644 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 MIR16; 363E6.2 Summary Predicted to enable glycerophosphodiester phosphodiesterase activity; glycerophosphoinositol glycerophosphodiesterase activity; and lysophospholipase activity. Predicted to be involved in N-acylethanolamine metabolic process; ethanolamine metabolic process; and phospholipid metabolic process. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 28.1), fat (RPKM 25.8) and 25 other tissues See more Orthologs mouse all
GDF1, Official Symbol GDF1provided by HGNC Official Full Name growth differentiation factor 1provided by HGNC Primary source HGNC:HGNC:4214 See related Ensembl:ENSG00000130283 MIM:602880; AllianceGenome:HGNC:4214 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 RAI; DORV; LAG1; UOG1; CERS1; CHTD6; DTGA3; LASS1 Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. The encoded protein is translated from a bicistronic mRNA that also encodes ceramide synthase 1. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Jul 2016] Expression Biased expression in brain (RPKM 26.0) and testis (RPKM 5.5) See more Orthologs mouse all
GDF10, Official Symbol GDF10provided by HGNC Official Full Name growth differentiation factor 10provided by HGNC Primary source HGNC:HGNC:4215 See related Ensembl:ENSG00000266524 MIM:601361; AllianceGenome:HGNC:4215 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 BIP; BMP3B; BMP-3b Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This promotes neural repair after stroke. Additionally, this protein may act as a tumor suppressor and reduced expression of this gene is associated with oral cancer. [provided by RefSeq, Jul 2016] Expression Biased expression in lung (RPKM 8.6), fat (RPKM 5.4) and 12 other tissues See more Orthologs mouse all
GDF11, Official Symbol GDF11provided by HGNC Official Full Name growth differentiation factor 11provided by HGNC Primary source HGNC:HGNC:4216 See related Ensembl:ENSG00000135414 MIM:603936; AllianceGenome:HGNC:4216 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 VHO; BMP11; BMP-11 Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role in the development of the nervous and other organ systems, and may regulate aging. [provided by RefSeq, Aug 2016] Expression Ubiquitous expression in brain (RPKM 8.1), endometrium (RPKM 6.4) and 24 other tissues See more Orthologs mouse all
GDF15, Official Symbol GDF15provided by HGNC Official Full Name growth differentiation factor 15provided by HGNC Primary source HGNC:HGNC:30142 See related Ensembl:ENSG00000130513 MIM:605312; AllianceGenome:HGNC:30142 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 PDF; MIC1; PLAB; MIC-1; NAG-1; PTGFB; GDF-15 Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The protein is expressed in a broad range of cell types, acts as a pleiotropic cytokine and is involved in the stress response program of cells after cellular injury. Increased protein levels are associated with disease states such as tissue hypoxia, inflammation, acute injury and oxidative stress. [provided by RefSeq, Aug 2016] Expression Biased expression in placenta (RPKM 62.0), prostate (RPKM 53.1) and 11 other tissues See more Orthologs mouse all
GDF2, Official Symbol GDF2provided by HGNC Official Full Name growth differentiation factor 2provided by HGNC Primary source HGNC:HGNC:4217 See related Ensembl:ENSG00000263761 MIM:605120; AllianceGenome:HGNC:4217 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 BMP9; HHT5; BMP-9 Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jul 2016] Expression Restricted expression toward liver (RPKM 6.7) See more Orthologs mouse all
GDF3, Official Symbol GDF3provided by HGNC Official Full Name growth differentiation factor 3provided by HGNC Primary source HGNC:HGNC:4218 See related Ensembl:ENSG00000184344 MIM:606522; AllianceGenome:HGNC:4218 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 KFS3; MCOP7; MCOPCB6 Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role ocular and skeletal development. Mutations in this gene are associated with microphthalmia, coloboma, and skeletal abnormalities in human patients. [provided by RefSeq, Aug 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
GDF5, Official Symbol GDF5provided by HGNC Official Full Name growth differentiation factor 5provided by HGNC Primary source HGNC:HGNC:4220 See related Ensembl:ENSG00000125965 MIM:601146; AllianceGenome:HGNC:4220 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 OS5; LAP4; BDA1C; BMP14; CDMP1; LAP-4; SYM1B; SYNS2; BMP-14; DUPANS Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016] Expression Biased expression in salivary gland (RPKM 2.0), fat (RPKM 0.7) and 7 other tissues See more Orthologs mouse all
GDF5-AS1, Official Symbol GDF5-AS1provided by HGNC Official Full Name GDF5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:33435 See related AllianceGenome:HGNC:33435 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 GDF5OS Summary Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
GDF6, Official Symbol GDF6provided by HGNC Official Full Name growth differentiation factor 6provided by HGNC Primary source HGNC:HGNC:4221 See related Ensembl:ENSG00000156466 MIM:601147; AllianceGenome:HGNC:4221 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 KFM; KFS; KFS1; KFSL; SGM1; BMP13; CDMP2; SYNS4; BMP-13 Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016] Expression Biased expression in placenta (RPKM 7.2), gall bladder (RPKM 1.8) and 6 other tissues See more Orthologs mouse all
GDF7, Official Symbol GDF7provided by HGNC Official Full Name growth differentiation factor 7provided by HGNC Primary source HGNC:HGNC:4222 See related Ensembl:ENSG00000143869 MIM:604651; AllianceGenome:HGNC:4222 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 BMP12 Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in the differentiation of tendon cells and spinal cord interneurons. A mutation in this gene may be associated with increased risk for Barrett's esophagus and esophageal adenocarcinoma. [provided by RefSeq, Sep 2016] Expression Biased expression in kidney (RPKM 1.0), endometrium (RPKM 0.6) and 7 other tissues See more Orthologs mouse all
GDI1, Official Symbol GDI1provided by HGNC Official Full Name GDP dissociation inhibitor 1provided by HGNC Primary source HGNC:HGNC:4226 See related Ensembl:ENSG00000203879 MIM:300104; AllianceGenome:HGNC:4226 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 1A; GDIL; MRX41; MRX48; OPHN2; XAP-4; XLID41; RABGD1A; RABGDIA Summary GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific cognitive disability. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 222.9), adrenal (RPKM 45.3) and 22 other tissues See more Orthologs mouse all
GDI2, Official Symbol GDI2provided by HGNC Official Full Name GDP dissociation inhibitor 2provided by HGNC Primary source HGNC:HGNC:4227 See related Ensembl:ENSG00000057608 MIM:600767; AllianceGenome:HGNC:4227 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 RABGDIB; HEL-S-46e Summary GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 104.1), appendix (RPKM 84.4) and 25 other tissues See more Orthologs mouse all
GDI2P1, Official Symbol GDI2P1provided by HGNC Official Full Name GDP dissociation inhibitor 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:4228 See related AllianceGenome:HGNC:4228 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 GDI2P
GDI2P2, Official Symbol GDI2P2provided by HGNC Official Full Name GDP dissociation inhibitor 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:37976 See related Ensembl:ENSG00000233994 AllianceGenome:HGNC:37976 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GDNF, Official Symbol GDNFprovided by HGNC Official Full Name glial cell derived neurotrophic factorprovided by HGNC Primary source HGNC:HGNC:4232 See related Ensembl:ENSG00000168621 MIM:600837; AllianceGenome:HGNC:4232 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 ATF; ATF1; ATF2; HSCR3; HFB1-GDNF Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The recombinant form of this protein, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. This protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Mutations in this gene may be associated with Hirschsprung disease and Tourette syndrome. This gene encodes multiple protein isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016] Expression Broad expression in placenta (RPKM 1.7), ovary (RPKM 1.5) and 18 other tissues See more Orthologs mouse all
GDPD1, Official Symbol GDPD1provided by HGNC Official Full Name glycerophosphodiester phosphodiesterase domain containing 1provided by HGNC Primary source HGNC:HGNC:20883 See related Ensembl:ENSG00000153982 MIM:616317; AllianceGenome:HGNC:20883 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 GDE4 Summary This gene encodes a member of the glycerophosphodiester phosphodiesterase family of enzymes that catalyze the hydrolysis of deacylated glycerophospholipids to glycerol phosphate and alcohol. The encoded protein is localized to the cytoplasm and concentrates near the perinuclear region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Broad expression in brain (RPKM 4.9), testis (RPKM 3.0) and 22 other tissues See more Orthologs mouse all
GDPD2, Official Symbol GDPD2provided by HGNC Official Full Name glycerophosphodiester phosphodiesterase domain containing 2provided by HGNC Primary source HGNC:HGNC:25974 See related Ensembl:ENSG00000130055 MIM:300940; AllianceGenome:HGNC:25974 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 GDE3; OBDPF Summary This gene encodes a member of the glycerophosphodiester phosphodiesterase enzyme family. The encoded protein hydrolyzes glycerophosphoinositol to produce inositol 1-phosphate and glycerol. This protein may have a role in osteoblast differentiation and growth. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010] Expression Biased expression in spleen (RPKM 25.5), skin (RPKM 21.4) and 4 other tissues See more Orthologs mouse all
GDPD3, Official Symbol GDPD3provided by HGNC Official Full Name glycerophosphodiester phosphodiesterase domain containing 3provided by HGNC Primary source HGNC:HGNC:28638 See related Ensembl:ENSG00000102886 MIM:616318; AllianceGenome:HGNC:28638 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 GDE7 Summary Enables phosphoric diester hydrolase activity. Involved in N-acylethanolamine metabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in esophagus (RPKM 15.4), colon (RPKM 11.2) and 22 other tissues See more Orthologs mouse all
GDPD4, Official Symbol GDPD4provided by HGNC Official Full Name glycerophosphodiester phosphodiesterase domain containing 4provided by HGNC Primary source HGNC:HGNC:24849 See related Ensembl:ENSG00000178795 AllianceGenome:HGNC:24849 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 GDE6 Summary Predicted to enable metal ion binding activity and phosphoric diester hydrolase activity. Predicted to be involved in lipid metabolic process. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
GDPD5, Official Symbol GDPD5provided by HGNC Official Full Name glycerophosphodiester phosphodiesterase domain containing 5provided by HGNC Primary source HGNC:HGNC:28804 See related Ensembl:ENSG00000158555 MIM:609632; AllianceGenome:HGNC:28804 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 GDE2; PP1665 Summary Predicted to enable glycerophosphocholine phosphodiesterase activity and phosphatidylinositol phospholipase C activity. Predicted to be involved in negative regulation of Notch signaling pathway and positive regulation of cell cycle. Predicted to act upstream of or within neuron differentiation; positive regulation of neuron differentiation; and regulation of timing of cell differentiation. Predicted to be located in membrane. Predicted to be part of axon; neuronal cell body; and perinuclear endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 16.9), fat (RPKM 8.6) and 14 other tissues See more Orthologs mouse all
GDPGP1, Official Symbol GDPGP1provided by HGNC Official Full Name GDP-D-glucose phosphorylase 1provided by HGNC Primary source HGNC:HGNC:34360 See related Ensembl:ENSG00000183208 MIM:619240; AllianceGenome:HGNC:34360 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 VTC2; C15orf58 Summary Enables GDP-D-glucose phosphorylase activity. Involved in glucose metabolic process. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in duodenum (RPKM 1.5), testis (RPKM 1.4) and 25 other tissues See more Orthologs mouse all
GEM, Official Symbol GEMprovided by HGNC Official Full Name GTP binding protein overexpressed in skeletal muscleprovided by HGNC Primary source HGNC:HGNC:4234 See related Ensembl:ENSG00000164949 MIM:600164; AllianceGenome:HGNC:4234 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 KIR Summary The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] Expression Broad expression in gall bladder (RPKM 114.4), urinary bladder (RPKM 36.5) and 15 other tissues See more Orthologs mouse all
GEMIN2, Official Symbol GEMIN2provided by HGNC Official Full Name gem nuclear organelle associated protein 2provided by HGNC Primary source HGNC:HGNC:10884 See related Ensembl:ENSG00000092208 MIM:602595; AllianceGenome:HGNC:10884 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 SIP1; SIP1-delta Summary This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in testis (RPKM 5.8), lymph node (RPKM 4.5) and 25 other tissues See more Orthologs mouse all
GEMIN4, Official Symbol GEMIN4provided by HGNC Official Full Name gem nuclear organelle associated protein 4provided by HGNC Primary source HGNC:HGNC:15717 See related Ensembl:ENSG00000179409 MIM:606969; AllianceGenome:HGNC:15717 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 p97; HC56; HCAP1; HHRF-1; NEDMCR Summary The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 20.3), skin (RPKM 9.4) and 23 other tissues See more Orthologs mouse all
GEMIN5, Official Symbol GEMIN5provided by HGNC Official Full Name gem nuclear organelle associated protein 5provided by HGNC Primary source HGNC:HGNC:20043 See related Ensembl:ENSG00000082516 MIM:607005; AllianceGenome:HGNC:20043 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 NEDCAM; GEMIN-5 Summary This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in testis (RPKM 4.9), ovary (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
GEMIN6, Official Symbol GEMIN6provided by HGNC Official Full Name gem nuclear organelle associated protein 6provided by HGNC Primary source HGNC:HGNC:20044 See related Ensembl:ENSG00000152147 MIM:607006; AllianceGenome:HGNC:20044 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 GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM, Jul 2002] Expression Ubiquitous expression in testis (RPKM 12.8), lymph node (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
GEMIN7, Official Symbol GEMIN7provided by HGNC Official Full Name gem nuclear organelle associated protein 7provided by HGNC Primary source HGNC:HGNC:20045 See related Ensembl:ENSG00000142252 MIM:607419; AllianceGenome:HGNC:20045 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 SIP3 Summary The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 4.5), spleen (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
GEMIN7-AS1, Official Symbol GEMIN7-AS1provided by HGNC Official Full Name GEMIN7 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53773 See related Ensembl:ENSG00000267348 AllianceGenome:HGNC:53773 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 spleen (RPKM 4.6), lymph node (RPKM 4.4) and 25 other tissues See more
GEMIN8, Official Symbol GEMIN8provided by HGNC Official Full Name gem nuclear organelle associated protein 8provided by HGNC Primary source HGNC:HGNC:26044 See related Ensembl:ENSG00000046647 MIM:300962; AllianceGenome:HGNC:26044 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 FAM51A1 Summary The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] Expression Ubiquitous expression in ovary (RPKM 3.3), thyroid (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
GEMIN8P1, Official Symbol GEMIN8P1provided by HGNC Official Full Name gem nuclear organelle associated protein 8 pseudogene 1provided by HGNC Primary source HGNC:HGNC:31818 See related AllianceGenome:HGNC:31818 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 GEMIN8P; FAM51A2P
GEMIN8P3, Official Symbol GEMIN8P3provided by HGNC Official Full Name gem nuclear organelle associated protein 8 pseudogene 3provided by HGNC Primary source HGNC:HGNC:37978 See related Ensembl:ENSG00000223772 AllianceGenome:HGNC:37978 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GEN1, Official Symbol GEN1provided by HGNC Official Full Name GEN1 Holliday junction 5' flap endonucleaseprovided by HGNC Primary source HGNC:HGNC:26881 See related Ensembl:ENSG00000178295 MIM:612449; AllianceGenome:HGNC:26881 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 Gen Summary This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Expression Broad expression in lymph node (RPKM 4.2), testis (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
GET1, Official Symbol GET1provided by HGNC Official Full Name guided entry of tail-anchored proteins factor 1provided by HGNC Primary source HGNC:HGNC:12790 See related Ensembl:ENSG00000182093 MIM:602915; AllianceGenome:HGNC:12790 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 WRB; CHD5 Summary This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in testis (RPKM 31.9), brain (RPKM 29.8) and 25 other tissues See more Orthologs mouse all
GET1-SH3BGR, Official Symbol GET1-SH3BGRprovided by HGNC Official Full Name GET1-SH3BGR readthroughprovided by HGNC Primary source HGNC:HGNC:54635 See related Ensembl:ENSG00000285815 AllianceGenome:HGNC:54635 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 WRB-SH3BGR Summary This locus represents naturally occurring readthrough transcription between the neighboring WRB (tryptophan rich basic protein) and SH3BGR (SH3 domain binding glutamate-rich protein) genes on chromosome 21. Readthrough transcripts may encode fusion proteins that shares sequence identity with each individual gene product. [provided by RefSeq, Apr 2017] Expression Broad expression in heart (RPKM 36.2), testis (RPKM 14.5) and 22 other tissues See more