psui3905/ncbi_genes_summary huggingface dataset:
ARHGDIA, Official Symbol ARHGDIAprovided by HGNC Official Full Name Rho GDP dissociation inhibitor alphaprovided by HGNC Primary source HGNC:HGNC:678 See related Ensembl:ENSG00000141522 MIM:601925; AllianceGenome:HGNC:678 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 GDIA1; NPHS8; RHOGDI; RHOGDI-1; HEL-S-47e Summary This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in colon (RPKM 69.2), fat (RPKM 67.4) and 25 other tissues See more Orthologs mouse all
ARHGDIB, Official Symbol ARHGDIBprovided by HGNC Official Full Name Rho GDP dissociation inhibitor betaprovided by HGNC Primary source HGNC:HGNC:679 See related Ensembl:ENSG00000111348 MIM:602843; AllianceGenome:HGNC:679 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 D4; GDIA2; GDID4; LYGDI; Ly-GDI; RAP1GN1; RhoGDI2 Summary Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between the GTP-bound and GDP-bound states: GTPase-activating proteins (GAPs), guanine nucleotide-releasing factors (GRFs), and GDP-dissociation inhibitors (GDIs). The GDIs, including ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010] Expression Broad expression in bone marrow (RPKM 324.5), lymph node (RPKM 244.8) and 19 other tissues See more Orthologs mouse all
ARHGDIG, Official Symbol ARHGDIGprovided by HGNC Official Full Name Rho GDP dissociation inhibitor gammaprovided by HGNC Primary source HGNC:HGNC:680 See related Ensembl:ENSG00000242173 MIM:602844; AllianceGenome:HGNC:680 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 RHOGDI-3 Summary The GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activation of GTPases by inhibiting the exchange of GDP for GTP. See ARHGDIB (MIM 602843).[supplied by OMIM, Nov 2010] Expression Biased expression in brain (RPKM 34.7), duodenum (RPKM 7.8) and 4 other tissues See more Orthologs mouse all
ARHGEF1, Official Symbol ARHGEF1provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 1provided by HGNC Primary source HGNC:HGNC:681 See related Ensembl:ENSG00000076928 MIM:601855; AllianceGenome:HGNC:681 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 LSC; GEF1; IMD62; LBCL2; SUB1.5; P115-RHOGEF Summary Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 68.4), lymph node (RPKM 64.2) and 24 other tissues See more Orthologs mouse all
ARHGEF10, Official Symbol ARHGEF10provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 10provided by HGNC Primary source HGNC:HGNC:14103 See related Ensembl:ENSG00000104728 MIM:608136; AllianceGenome:HGNC:14103 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 SNCV; GEF10 Summary This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Expression Broad expression in testis (RPKM 15.4), lung (RPKM 12.1) and 22 other tissues See more Orthologs mouse all
ARHGEF10L, Official Symbol ARHGEF10Lprovided by HGNC Official Full Name Rho guanine nucleotide exchange factor 10 likeprovided by HGNC Primary source HGNC:HGNC:25540 See related Ensembl:ENSG00000074964 MIM:612494; AllianceGenome:HGNC:25540 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 GrinchGEF Summary This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016] Expression Ubiquitous expression in kidney (RPKM 7.7), colon (RPKM 6.9) and 24 other tissues See more Orthologs mouse all
ARHGEF11, Official Symbol ARHGEF11provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 11provided by HGNC Primary source HGNC:HGNC:14580 See related Ensembl:ENSG00000132694 MIM:605708; AllianceGenome:HGNC:14580 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 GTRAP48; PDZ-RHOGEF Summary Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 13.2), brain (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
ARHGEF12, Official Symbol ARHGEF12provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 12provided by HGNC Primary source HGNC:HGNC:14193 See related Ensembl:ENSG00000196914 MIM:604763; AllianceGenome:HGNC:14193 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 LARG; PRO2792 Summary Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in kidney (RPKM 33.3), thyroid (RPKM 28.1) and 25 other tissues See more Orthologs mouse all
ARHGEF15, Official Symbol ARHGEF15provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 15provided by HGNC Primary source HGNC:HGNC:15590 See related Ensembl:ENSG00000198844 MIM:608504; AllianceGenome:HGNC:15590 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 E5; ARGEF15; Ephexin5; Vsm-RhoGEF Summary Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010] Expression Broad expression in fat (RPKM 15.9), lung (RPKM 13.8) and 19 other tissues See more Orthologs mouse all
ARHGEF16, Official Symbol ARHGEF16provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 16provided by HGNC Primary source HGNC:HGNC:15515 See related Ensembl:ENSG00000130762 MIM:618871; AllianceGenome:HGNC:15515 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 NBR; GEF16 Summary Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008] Expression Broad expression in duodenum (RPKM 15.0), small intestine (RPKM 12.9) and 17 other tissues See more Orthologs mouse all
ARHGEF17, Official Symbol ARHGEF17provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 17provided by HGNC Primary source HGNC:HGNC:21726 See related Ensembl:ENSG00000110237 MIM:617043; AllianceGenome:HGNC:21726 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 TEM4; RHOGEF17; P164RHOGEF; p164-RhoGEF Summary Enables guanyl-nucleotide exchange factor activity. Acts upstream of or within actin cytoskeleton organization. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 12.7), fat (RPKM 10.8) and 24 other tissues See more Orthologs mouse all
ARHGEF18, Official Symbol ARHGEF18provided by HGNC Official Full Name Rho/Rac guanine nucleotide exchange factor 18provided by HGNC Primary source HGNC:HGNC:17090 See related Ensembl:ENSG00000104880 MIM:616432; AllianceGenome:HGNC:17090 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 RP78; SA-RhoGEF; p114RhoGEF; P114-RhoGEF Summary Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GEF family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2018] Expression Ubiquitous expression in spleen (RPKM 12.9), lymph node (RPKM 11.3) and 25 other tissues See more Orthologs mouse all
ARHGEF19, Official Symbol ARHGEF19provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 19provided by HGNC Primary source HGNC:HGNC:26604 See related Ensembl:ENSG00000142632 MIM:612496; AllianceGenome:HGNC:26604 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 WGEF Summary Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008] Expression Ubiquitous expression in skin (RPKM 10.4), thyroid (RPKM 4.9) and 22 other tissues See more Orthologs mouse all
ARHGEF2, Official Symbol ARHGEF2provided by HGNC Official Full Name Rho/Rac guanine nucleotide exchange factor 2provided by HGNC Primary source HGNC:HGNC:682 See related Ensembl:ENSG00000116584 MIM:607560; AllianceGenome:HGNC:682 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 GEF; Lfc; P40; GEFH1; LFP40; GEF-H1; NEDMHM Summary Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009] Expression Ubiquitous expression in lung (RPKM 15.7), spleen (RPKM 12.3) and 24 other tissues See more Orthologs mouse all
ARHGEF2-AS1, Official Symbol ARHGEF2-AS1provided by HGNC Official Full Name ARHGEF2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40082 See related Ensembl:ENSG00000224276 AllianceGenome:HGNC:40082 Gene type ncRNA RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in lung (RPKM 2.3), stomach (RPKM 1.4) and 6 other tissues See more
ARHGEF2-AS2, Official Symbol ARHGEF2-AS2provided by HGNC Official Full Name ARHGEF2 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:55175 See related AllianceGenome:HGNC:55175 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in spleen (RPKM 1.5), lymph node (RPKM 1.2) and 22 other tissues See more
ARHGEF25, Official Symbol ARHGEF25provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 25provided by HGNC Primary source HGNC:HGNC:30275 See related Ensembl:ENSG00000240771 MIM:610215; AllianceGenome:HGNC:30275 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 GEFT; p63RhoGEF Summary Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Broad expression in endometrium (RPKM 29.1), prostate (RPKM 19.9) and 22 other tissues See more Orthologs mouse all
ARHGEF26, Official Symbol ARHGEF26provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 26provided by HGNC Primary source HGNC:HGNC:24490 See related Ensembl:ENSG00000114790 MIM:617552; AllianceGenome:HGNC:24490 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 SGEF; CSGEF; HMFN1864 Summary This gene encodes a member of the Rho-guanine nucleotide exchange factor (Rho-GEF) family. These proteins regulate Rho GTPases by catalyzing the exchange of GDP for GTP. The encoded protein specifically activates RhoG and plays a role in the promotion of macropinocytosis. Underexpression of the encoded protein may be a predictive marker of chemoresistant disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] Expression Broad expression in lung (RPKM 13.8), brain (RPKM 7.6) and 23 other tissues See more Orthologs mouse all
ARHGEF26-AS1, Official Symbol ARHGEF26-AS1provided by HGNC Official Full Name ARHGEF26 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41048 See related Ensembl:ENSG00000243069 AllianceGenome:HGNC:41048 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in brain (RPKM 3.9), lung (RPKM 1.3) and 6 other tissues See more
ARHGEF28, Official Symbol ARHGEF28provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 28provided by HGNC Primary source HGNC:HGNC:30322 See related Ensembl:ENSG00000214944 MIM:612790; AllianceGenome:HGNC:30322 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 RIP2; RGNEF; p190RHOGEF Summary This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] Expression Broad expression in kidney (RPKM 8.5), thyroid (RPKM 7.2) and 21 other tissues See more Orthologs mouse all
ARHGEF3, Official Symbol ARHGEF3provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 3provided by HGNC Primary source HGNC:HGNC:683 See related Ensembl:ENSG00000163947 MIM:612115; AllianceGenome:HGNC:683 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 GEF3; STA3; XPLN Summary Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 17.9), adrenal (RPKM 16.7) and 24 other tissues See more Orthologs mouse all
ARHGEF3-AS1, Official Symbol ARHGEF3-AS1provided by HGNC Official Full Name ARHGEF3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40083 See related Ensembl:ENSG00000240198 AllianceGenome:HGNC:40083 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
ARHGEF33, Official Symbol ARHGEF33provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 33provided by HGNC Primary source HGNC:HGNC:37252 See related Ensembl:ENSG00000214694 AllianceGenome:HGNC:37252 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 Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.6), brain (RPKM 0.5) and 12 other tissues See more Orthologs mouse all
ARHGEF35, Official Symbol ARHGEF35provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 35provided by HGNC Primary source HGNC:HGNC:33846 See related Ensembl:ENSG00000213214 AllianceGenome:HGNC:33846 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 ARHGEF5L Expression Broad expression in thyroid (RPKM 25.8), colon (RPKM 15.5) and 22 other tissues See more Orthologs all
ARHGEF37, Official Symbol ARHGEF37provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 37provided by HGNC Primary source HGNC:HGNC:34430 See related Ensembl:ENSG00000183111 AllianceGenome:HGNC:34430 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 21.4), prostate (RPKM 12.5) and 20 other tissues See more Orthologs mouse all
ARHGEF38, Official Symbol ARHGEF38provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 38provided by HGNC Primary source HGNC:HGNC:25968 See related Ensembl:ENSG00000236699 MIM:619919; AllianceGenome:HGNC:25968 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in prostate (RPKM 3.4), colon (RPKM 1.7) and 11 other tissues See more Orthologs mouse all
ARHGEF38-IT1, Official Symbol ARHGEF38-IT1provided by HGNC Official Full Name ARHGEF38 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41483 See related Ensembl:ENSG00000249885 AllianceGenome:HGNC:41483 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
ARHGEF39, Official Symbol ARHGEF39provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 39provided by HGNC Primary source HGNC:HGNC:25909 See related Ensembl:ENSG00000137135 AllianceGenome:HGNC:25909 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 C9orf100 Summary Predicted to enable guanyl-nucleotide exchange factor activity. Involved in positive regulation of cell migration. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 7.7), adrenal (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
ARHGEF4, Official Symbol ARHGEF4provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 4provided by HGNC Primary source HGNC:HGNC:684 See related Ensembl:ENSG00000136002 MIM:605216; AllianceGenome:HGNC:684 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 ASEF; GEF4; STM6; ASEF1; SMIM39 Summary Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013] Expression Biased expression in brain (RPKM 13.8), skin (RPKM 13.1) and 11 other tissues See more Orthologs mouse all
ARHGEF40, Official Symbol ARHGEF40provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 40provided by HGNC Primary source HGNC:HGNC:25516 See related Ensembl:ENSG00000165801 MIM:610018; AllianceGenome:HGNC:25516 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 SOLO Summary This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in spleen (RPKM 21.4), adrenal (RPKM 17.9) and 25 other tissues See more Orthologs mouse all
ARHGEF5, Official Symbol ARHGEF5provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 5provided by HGNC Primary source HGNC:HGNC:13209 See related Ensembl:ENSG00000050327 MIM:600888; AllianceGenome:HGNC:13209 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 P60; TIM; GEF5; TIM1 Summary Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008] Expression Broad expression in thyroid (RPKM 23.4), skin (RPKM 15.6) and 23 other tissues See more Orthologs mouse all
ARHGEF6, Official Symbol ARHGEF6provided by HGNC Official Full Name Rac/Cdc42 guanine nucleotide exchange factor 6provided by HGNC Primary source HGNC:HGNC:685 See related Ensembl:ENSG00000129675 MIM:300267; AllianceGenome:HGNC:685 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 PIXA; COOL2; MRX46; Cool-2; alphaPIX; alpha-PIX Summary Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific cognitive disability. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 22.0), lymph node (RPKM 16.8) and 24 other tissues See more Orthologs mouse all
ARHGEF7, Official Symbol ARHGEF7provided by HGNC Official Full Name Rho guanine nucleotide exchange factor 7provided by HGNC Primary source HGNC:HGNC:15607 See related Ensembl:ENSG00000102606 MIM:605477; AllianceGenome:HGNC:15607 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 P50; P85; PAK3; PIXB; COOL1; P50BP; COOL-1; P85SPR; BETA-PIX; P85COOL1; Nbla10314 Summary This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in brain (RPKM 14.7), fat (RPKM 11.2) and 25 other tissues See more Orthologs mouse all
ARHGEF7-AS1, Official Symbol ARHGEF7-AS1provided by HGNC Official Full Name ARHGEF7 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:39816 See related AllianceGenome:HGNC:39816 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 Restricted expression toward testis (RPKM 3.1) See more
ARHGEF7-AS2, Official Symbol ARHGEF7-AS2provided by HGNC Official Full Name ARHGEF7 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:40717 See related Ensembl:ENSG00000235875 AllianceGenome:HGNC:40717 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in fat (RPKM 1.9), brain (RPKM 1.0) and 11 other tissues See more
ARHGEF9, Official Symbol ARHGEF9provided by HGNC Official Full Name Cdc42 guanine nucleotide exchange factor 9provided by HGNC Primary source HGNC:HGNC:14561 See related Ensembl:ENSG00000131089 MIM:300429; AllianceGenome:HGNC:14561 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 DEE8; PEM2; EIEE8; PEM-2; HPEM-2; COLLYBISTIN Summary The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in brain (RPKM 18.5), heart (RPKM 6.1) and 21 other tissues See more Orthologs mouse all
ARHGEF9-IT1, Official Symbol ARHGEF9-IT1provided by HGNC Official Full Name ARHGEF9 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41401 See related Ensembl:ENSG00000231729 AllianceGenome:HGNC:41401 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
ARID1A, Official Symbol ARID1Aprovided by HGNC Official Full Name AT-rich interaction domain 1Aprovided by HGNC Primary source HGNC:HGNC:11110 See related Ensembl:ENSG00000117713 MIM:603024; AllianceGenome:HGNC:11110 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 ELD; B120; CSS2; OSA1; P270; hELD; BM029; MRD14; hOSA1; BAF250; C1orf4; BAF250a; SMARCF1 Summary This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 14.3), lymph node (RPKM 13.2) and 25 other tissues See more Orthologs mouse all
ARID1B, Official Symbol ARID1Bprovided by HGNC Official Full Name AT-rich interaction domain 1Bprovided by HGNC Primary source HGNC:HGNC:18040 See related Ensembl:ENSG00000049618 MIM:614556; AllianceGenome:HGNC:18040 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 CSS1; OSA2; 6A3-5; DAN15; MRD12; P250R; BRIGHT; BAF250B; SMARCF2; ELD/OSA1 Summary This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in thyroid (RPKM 7.6), skin (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
ARID2, Official Symbol ARID2provided by HGNC Official Full Name AT-rich interaction domain 2provided by HGNC Primary source HGNC:HGNC:18037 See related Ensembl:ENSG00000189079 MIM:609539; AllianceGenome:HGNC:18037 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 CSS6; p200; BAF200; ZIPZAP; SMARCF3 Summary This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and chromatin structure modification. This protein functions as a subunit of the polybromo- and BRG1-associated factor or PBAF (SWI/SNF-B) chromatin remodeling complex which facilitates ligand-dependent transcriptional activation by nuclear receptors. Mutations in this gene are associated with hepatocellular carcinomas. A pseudogene of this gene is found on chromosome1. [provided by RefSeq, Dec 2016] Expression Broad expression in testis (RPKM 13.8), thyroid (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
ARID3A, Official Symbol ARID3Aprovided by HGNC Official Full Name AT-rich interaction domain 3Aprovided by HGNC Primary source HGNC:HGNC:3031 See related Ensembl:ENSG00000116017 MIM:603265; AllianceGenome:HGNC:3031 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 DRIL1; DRIL3; BRIGHT; E2FBP1 Summary This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 13.1), bone marrow (RPKM 2.3) and 16 other tissues See more Orthologs mouse all
ARID3B, Official Symbol ARID3Bprovided by HGNC Official Full Name AT-rich interaction domain 3Bprovided by HGNC Primary source HGNC:HGNC:14350 See related Ensembl:ENSG00000179361 MIM:612457; AllianceGenome:HGNC:14350 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 BDP; DRIL2 Summary This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 16.7), placenta (RPKM 10.6) and 19 other tissues See more Orthologs mouse all
ARID3BP1, Official Symbol ARID3BP1provided by HGNC Official Full Name ARID3B pseudogene 1provided by HGNC Primary source HGNC:HGNC:54553 See related AllianceGenome:HGNC:54553 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ARID3C, Official Symbol ARID3Cprovided by HGNC Official Full Name AT-rich interaction domain 3Cprovided by HGNC Primary source HGNC:HGNC:21209 See related Ensembl:ENSG00000205143 AllianceGenome:HGNC:21209 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 This gene is a member of the ARID (AT-rich interaction domain) family of proteins. The ARID domain is a helix-turn-helix motif-based DNA-binding domain. ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
ARID4A, Official Symbol ARID4Aprovided by HGNC Official Full Name AT-rich interaction domain 4Aprovided by HGNC Primary source HGNC:HGNC:9885 See related Ensembl:ENSG00000032219 MIM:180201; AllianceGenome:HGNC:9885 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 RBP1; RBBP1; RBP-1; RBBP-1 Summary The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 9.9), lymph node (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
ARID4B, Official Symbol ARID4Bprovided by HGNC Official Full Name AT-rich interaction domain 4Bprovided by HGNC Primary source HGNC:HGNC:15550 See related Ensembl:ENSG00000054267 MIM:609696; AllianceGenome:HGNC:15550 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 BCAA; BRCAA1; RBP1L1; SAP180; RBBP1L1 Summary This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 12.1), lymph node (RPKM 11.3) and 25 other tissues See more Orthologs mouse all
ARID5A, Official Symbol ARID5Aprovided by HGNC Official Full Name AT-rich interaction domain 5Aprovided by HGNC Primary source HGNC:HGNC:17361 See related Ensembl:ENSG00000196843 MIM:611583; AllianceGenome:HGNC:17361 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 MRF1; MRF-1; RP11-363D14 Summary Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in bone marrow (RPKM 12.1), appendix (RPKM 8.5) and 24 other tissues See more Orthologs mouse all
ARID5B, Official Symbol ARID5Bprovided by HGNC Official Full Name AT-rich interaction domain 5Bprovided by HGNC Primary source HGNC:HGNC:17362 See related Ensembl:ENSG00000150347 MIM:608538; AllianceGenome:HGNC:17362 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 MRF2; DESRT; MRF-2 Summary This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in gall bladder (RPKM 21.6), fat (RPKM 15.6) and 24 other tissues See more Orthologs mouse all
ARIH1, Official Symbol ARIH1provided by HGNC Official Full Name ariadne RBR E3 ubiquitin protein ligase 1provided by HGNC Primary source HGNC:HGNC:689 See related Ensembl:ENSG00000166233 MIM:605624; AllianceGenome:HGNC:689 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 ARI; HARI; HHARI; UBCH7BP Summary Enables enzyme binding activity; ubiquitin-protein transferase activity; and zinc ion binding activity. Involved in protein ubiquitination. Located in Lewy body; cytoplasm; and nuclear body. Colocalizes with cullin-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 22.0), thyroid (RPKM 13.4) and 25 other tissues See more Orthologs mouse all
ARIH2, Official Symbol ARIH2provided by HGNC Official Full Name ariadne RBR E3 ubiquitin protein ligase 2provided by HGNC Primary source HGNC:HGNC:690 See related Ensembl:ENSG00000177479 MIM:605615; AllianceGenome:HGNC:690 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 ARI2; TRIAD1 Summary The protein encoded by this gene is an E3 ubiquitin-protein ligase that polyubiquitinates some proteins, tagging them for degradation. The encoded protein upregulates p53 in some cancer cells and may inhibit myelopoiesis. Several transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been determined yet. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in thyroid (RPKM 18.6), heart (RPKM 17.4) and 25 other tissues See more Orthologs mouse all