psui3905/ncbi_genes_summary huggingface dataset:
ADRB1, Official Symbol ADRB1provided by HGNC Official Full Name adrenoceptor beta 1provided by HGNC Primary source HGNC:HGNC:285 See related Ensembl:ENSG00000043591 MIM:109630; AllianceGenome:HGNC:285 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 RHR; B1AR; FNSS2; ADRB1R; BETA1AR Summary The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Beta-1 adrenoceptors are predominately located in the heart. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Sep 2019] Orthologs mouse all
ADRB2, Official Symbol ADRB2provided by HGNC Official Full Name adrenoceptor beta 2provided by HGNC Primary source HGNC:HGNC:286 See related Ensembl:ENSG00000169252 MIM:109690; AllianceGenome:HGNC:286 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 BAR; ARB2; B2AR; ADRBR; ADRB2R; BETA2AR Summary This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This receptor is also a transcription regulator of the alpha-synuclein gene, and together, both genes are believed to be associated with risk of Parkinson's Disease. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity, type 2 diabetes and cardiovascular disease. [provided by RefSeq, Oct 2019] Orthologs mouse all
ADRB3, Official Symbol ADRB3provided by HGNC Official Full Name adrenoceptor beta 3provided by HGNC Primary source HGNC:HGNC:288 See related Ensembl:ENSG00000188778 MIM:109691; AllianceGenome:HGNC:288 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 BETA3AR Summary The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. Obesity and bodyweight-related disorders are correlated with certain polymorphisms in three subtypes of beta-adrenoceptor, among them, the ADRB3 gene.[provided by RefSeq, Oct 2019] Expression Biased expression in ovary (RPKM 4.0), placenta (RPKM 1.7) and 3 other tissues See more Orthologs mouse all
ADRM1, Official Symbol ADRM1provided by HGNC Official Full Name ADRM1 26S proteasome ubiquitin receptorprovided by HGNC Primary source HGNC:HGNC:15759 See related Ensembl:ENSG00000130706 MIM:610650; AllianceGenome:HGNC:15759 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 ARM1; ARM-1; GP110; PSMD16 Summary This gene encodes a member of the adhesion regulating molecule 1 protein family. The encoded protein is a component of the proteasome where it acts as a ubiquitin receptor and recruits the deubiquitinating enzyme, ubiquitin carboxyl-terminal hydrolase L5. Increased levels of the encoded protein are associated with increased cell adhesion, which is likely an indirect effect of this intracellular protein. Dysregulation of this gene has been implicated in carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in testis (RPKM 31.4), fat (RPKM 17.5) and 25 other tissues See more Orthologs mouse all
ADSL, Official Symbol ADSLprovided by HGNC Official Full Name adenylosuccinate lyaseprovided by HGNC Primary source HGNC:HGNC:291 See related Ensembl:ENSG00000239900 MIM:608222; AllianceGenome:HGNC:291 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 ASL; AMPS; ASASE Summary The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in lymph node (RPKM 10.5), testis (RPKM 9.0) and 25 other tissues See more Orthologs mouse all
ADSS1, Official Symbol ADSS1provided by HGNC Official Full Name adenylosuccinate synthase 1provided by HGNC Primary source HGNC:HGNC:20093 See related Ensembl:ENSG00000185100 MIM:612498; AllianceGenome:HGNC:20093 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 MPD5; ADSSL1 Summary This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Biased expression in heart (RPKM 30.6), kidney (RPKM 9.0) and 12 other tissues See more Orthologs mouse all
ADSS2, Official Symbol ADSS2provided by HGNC Official Full Name adenylosuccinate synthase 2provided by HGNC Primary source HGNC:HGNC:292 See related Ensembl:ENSG00000035687 MIM:103060; AllianceGenome:HGNC:292 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 ADEH; ADSS; ADSS 2 Summary This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010] Expression Ubiquitous expression in testis (RPKM 31.2), thyroid (RPKM 14.9) and 25 other tissues See more Orthologs mouse all
ADTRP, Official Symbol ADTRPprovided by HGNC Official Full Name androgen dependent TFPI regulating proteinprovided by HGNC Primary source HGNC:HGNC:21214 See related Ensembl:ENSG00000111863 MIM:614348; AllianceGenome:HGNC:21214 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 AIG1L; C6orf105; dJ413H6.1 Summary Enables hydrolase activity. Involved in several processes, including cell migration involved in sprouting angiogenesis; negative regulation of secretion by cell; and positive regulation of macromolecule metabolic process. Located in caveola and cell surface. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in small intestine (RPKM 12.0), duodenum (RPKM 8.7) and 8 other tissues See more Orthologs mouse all
AEBP1, Official Symbol AEBP1provided by HGNC Official Full Name AE binding protein 1provided by HGNC Primary source HGNC:HGNC:303 See related Ensembl:ENSG00000106624 MIM:602981; AllianceGenome:HGNC:303 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 ACLP Summary This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013] Expression Ubiquitous expression in gall bladder (RPKM 100.0), endometrium (RPKM 86.2) and 23 other tissues See more Orthologs mouse all
AEBP2, Official Symbol AEBP2provided by HGNC Official Full Name AE binding protein 2provided by HGNC Primary source HGNC:HGNC:24051 See related Ensembl:ENSG00000139154 MIM:617934; AllianceGenome:HGNC:24051 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 transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of transcription, DNA-templated. Located in nucleoplasm. Part of ESC/E(Z) complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 7.9), thyroid (RPKM 7.0) and 25 other tissues See more Orthologs mouse all
AEN, Official Symbol AENprovided by HGNC Official Full Name apoptosis enhancing nucleaseprovided by HGNC Primary source HGNC:HGNC:25722 See related Ensembl:ENSG00000181026 MIM:610177; AllianceGenome:HGNC:25722 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 ISG20L1; pp12744 Summary Enables exonuclease activity. Involved in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator and response to ionizing radiation. Located in nuclear membrane; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in gall bladder (RPKM 5.8), thyroid (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
AFAP1, Official Symbol AFAP1provided by HGNC Official Full Name actin filament associated protein 1provided by HGNC Primary source HGNC:HGNC:24017 See related Ensembl:ENSG00000196526 MIM:608252; AllianceGenome:HGNC:24017 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 AFAP; AFAP110; AFAP-110 Summary The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] Expression Ubiquitous expression in endometrium (RPKM 8.4), placenta (RPKM 6.8) and 24 other tissues See more Orthologs mouse all
AFAP1-AS1, Official Symbol AFAP1-AS1provided by HGNC Official Full Name AFAP1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:28141 See related Ensembl:ENSG00000272620 MIM:619779; AllianceGenome:HGNC:28141 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AFAP1AS; AFAP1-AS Summary This gene produces a long non-coding RNA that is overexpressed in tumor cells and may promote cancer cell metastasis. [provided by RefSeq, Dec 2017] Expression Broad expression in ovary (RPKM 2.9), stomach (RPKM 1.6) and 21 other tissues See more
AFAP1L1, Official Symbol AFAP1L1provided by HGNC Official Full Name actin filament associated protein 1 like 1provided by HGNC Primary source HGNC:HGNC:26714 See related Ensembl:ENSG00000157510 MIM:614410; AllianceGenome:HGNC:26714 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 SH3 domain binding activity. Predicted to be located in cell junction; cell projection; and podosome. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 15.5), placenta (RPKM 9.5) and 18 other tissues See more Orthologs mouse all
AFAP1L2, Official Symbol AFAP1L2provided by HGNC Official Full Name actin filament associated protein 1 like 2provided by HGNC Primary source HGNC:HGNC:25901 See related Ensembl:ENSG00000169129 MIM:612420; AllianceGenome:HGNC:25901 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 XB130; KIAA1914; CTB-1144G6.4 Summary Enables SH2 domain binding activity; SH3 domain binding activity; and protein tyrosine kinase activator activity. Involved in several processes, including positive regulation of epidermal growth factor receptor signaling pathway; regulation of gene expression; and regulation of mitotic cell cycle. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 34.2), spleen (RPKM 23.9) and 15 other tissues See more Orthologs mouse all
AFDN, Official Symbol AFDNprovided by HGNC Official Full Name afadin, adherens junction formation factorprovided by HGNC Primary source HGNC:HGNC:7137 See related Ensembl:ENSG00000130396 MIM:159559; AllianceGenome:HGNC:7137 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 AF6; MLLT4; MLL-AF6; l-afadin Summary This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011] Expression Ubiquitous expression in esophagus (RPKM 18.5), lung (RPKM 15.9) and 24 other tissues See more Orthologs mouse all
AFF1, Official Symbol AFF1provided by HGNC Official Full Name ALF transcription elongation factor 1provided by HGNC Primary source HGNC:HGNC:7135 See related Ensembl:ENSG00000172493 MIM:159557; AllianceGenome:HGNC:7135 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 AF4; FEL; PBM1; MLLT2 Summary This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in thyroid (RPKM 30.6), fat (RPKM 17.7) and 25 other tissues See more Orthologs mouse all
AFF2, Official Symbol AFF2provided by HGNC Official Full Name ALF transcription elongation factor 2provided by HGNC Primary source HGNC:HGNC:3776 See related Ensembl:ENSG00000155966 MIM:300806; AllianceGenome:HGNC:3776 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 FMR2; MRX2; OX19; FMR2P; FRAXE; XLID109 Summary This gene encodes a putative transcriptional activator that is a member of the AF4\FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked cognitive disability. In addition, this gene contains 6-25 GCC repeats that are expanded to >200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016] Expression Biased expression in placenta (RPKM 3.7), bone marrow (RPKM 2.5) and 8 other tissues See more Orthologs mouse all
AFF3, Official Symbol AFF3provided by HGNC Official Full Name ALF transcription elongation factor 3provided by HGNC Primary source HGNC:HGNC:6473 See related Ensembl:ENSG00000144218 MIM:601464; AllianceGenome:HGNC:6473 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 KINS; LAF4; MLLT2-like Summary This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in prostate (RPKM 4.8), lymph node (RPKM 3.7) and 23 other tissues See more Orthologs mouse all
AFF4, Official Symbol AFF4provided by HGNC Official Full Name ALF transcription elongation factor 4provided by HGNC Primary source HGNC:HGNC:17869 See related Ensembl:ENSG00000072364 MIM:604417; AllianceGenome:HGNC:17869 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 MCEF; CHOPS; AF5Q31 Summary The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in thyroid (RPKM 21.2), adrenal (RPKM 17.6) and 25 other tissues See more Orthologs mouse all
AFG1L, Official Symbol AFG1Lprovided by HGNC Official Full Name AFG1 like ATPaseprovided by HGNC Primary source HGNC:HGNC:16411 See related Ensembl:ENSG00000135537 MIM:617469; AllianceGenome:HGNC:16411 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 AFG1; LACE1; c222389 Summary This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016] Expression Broad expression in testis (RPKM 1.7), kidney (RPKM 1.0) and 25 other tissues See more Orthologs mouse all
AFG3L1P, Official Symbol AFG3L1Pprovided by HGNC Official Full Name AFG3 like matrix AAA peptidase subunit 1, pseudogeneprovided by HGNC Primary source HGNC:HGNC:314 See related Ensembl:ENSG00000223959 MIM:603020; AllianceGenome:HGNC:314 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AFG3; AFG3L1 Summary Predicted to be involved in protein processing. Predicted to act upstream of or within cristae formation; mitochondrial fusion; and mitochondrial protein processing. Predicted to be located in mitochondrial inner membrane. Predicted to be part of m-AAA complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 5.2), lymph node (RPKM 5.0) and 25 other tissues See more
AFG3L2, Official Symbol AFG3L2provided by HGNC Official Full Name AFG3 like matrix AAA peptidase subunit 2provided by HGNC Primary source HGNC:HGNC:315 See related Ensembl:ENSG00000141385 MIM:604581; AllianceGenome:HGNC:315 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 OPA12; SCA28; SPAX5 Summary This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in duodenum (RPKM 38.9), heart (RPKM 35.3) and 25 other tissues See more Orthologs mouse all
AFM, Official Symbol AFMprovided by HGNC Official Full Name afaminprovided by HGNC Primary source HGNC:HGNC:316 See related Ensembl:ENSG00000079557 MIM:104145; AllianceGenome:HGNC:316 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 ALF; ALB2; ALBA Summary This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008] Expression Restricted expression toward liver (RPKM 187.4) See more Orthologs mouse all
AFMID, Official Symbol AFMIDprovided by HGNC Official Full Name arylformamidaseprovided by HGNC Primary source HGNC:HGNC:20910 See related Ensembl:ENSG00000183077 AllianceGenome:HGNC:20910 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 KF; FKF; KFA Summary Predicted to enable hydrolase activity. Predicted to be involved in tryptophan catabolic process to kynurenine. Predicted to be located in cytosol and nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 25.1), liver (RPKM 16.9) and 25 other tissues See more Orthologs mouse all
AFP, Official Symbol AFPprovided by HGNC Official Full Name alpha fetoproteinprovided by HGNC Primary source HGNC:HGNC:317 See related Ensembl:ENSG00000081051 MIM:104150; AllianceGenome:HGNC:317 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 AFPD; FETA; HPAFP Summary This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatocarcinoma and with teratoma, and has prognostic value for managing advanced gastric cancer. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Oct 2019] Expression Biased expression in kidney (RPKM 1.8) and liver (RPKM 1.6) See more Orthologs mouse all
AFTPH, Official Symbol AFTPHprovided by HGNC Official Full Name aftiphilinprovided by HGNC Primary source HGNC:HGNC:25951 See related Ensembl:ENSG00000119844 MIM:619628; AllianceGenome:HGNC:25951 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 Nbla10388 Summary Enables clathrin binding activity. Predicted to be involved in intracellular transport. Located in Golgi apparatus; cytosol; and nucleoplasm. Part of AP-1 adaptor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 20.9), prostate (RPKM 17.7) and 25 other tissues See more Orthologs mouse all
AGA, Official Symbol AGAprovided by HGNC Official Full Name aspartylglucosaminidaseprovided by HGNC Primary source HGNC:HGNC:318 See related Ensembl:ENSG00000038002 MIM:613228; AllianceGenome:HGNC:318 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GA; AGU; ASRG Summary This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in thyroid (RPKM 10.5), testis (RPKM 10.0) and 25 other tissues See more Orthologs mouse all
AGAP1, Official Symbol AGAP1provided by HGNC Official Full Name ArfGAP with GTPase domain, ankyrin repeat and PH domain 1provided by HGNC Primary source HGNC:HGNC:16922 See related Ensembl:ENSG00000157985 MIM:608651; AllianceGenome:HGNC:16922 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 GGAP1; AGAP-1; CENTG2; cnt-g2 Summary This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Broad expression in brain (RPKM 11.1), colon (RPKM 5.1) and 23 other tissues See more Orthologs mouse all
AGAP1-IT1, Official Symbol AGAP1-IT1provided by HGNC Official Full Name AGAP1 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41427 See related Ensembl:ENSG00000235529 AllianceGenome:HGNC:41427 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
AGAP11, Official Symbol AGAP11provided by HGNC Official Full Name ArfGAP with GTPase domain, ankyrin repeat and PH domain 11provided by HGNC Primary source HGNC:HGNC:29421 See related Ensembl:ENSG00000271880 AllianceGenome:HGNC:29421 Gene type ncRNA 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 GTPase activator activity and metal ion binding activity. Predicted to be involved in regulation of catalytic activity. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 52.1), prostate (RPKM 22.0) and 20 other tissues See more Orthologs all
AGAP12P, Official Symbol AGAP12Pprovided by HGNC Official Full Name ArfGAP with GTPase domain, ankyrin repeat and PH domain 12, pseudogeneprovided by HGNC Primary source HGNC:HGNC:23661 See related Ensembl:ENSG00000290898 AllianceGenome:HGNC:23661 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CTGLF12P; PTPN20CP Expression Ubiquitous expression in testis (RPKM 13.7), skin (RPKM 12.3) and 25 other tissues See more
AGAP13P, Official Symbol AGAP13Pprovided by HGNC Official Full Name ArfGAP with GTPase domain, ankyrin repeat and PH domain 13, pseudogeneprovided by HGNC Primary source HGNC:HGNC:23499 See related AllianceGenome:HGNC:23499 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CTGLF9P; bA548K23.1
AGAP2, Official Symbol AGAP2provided by HGNC Official Full Name ArfGAP with GTPase domain, ankyrin repeat and PH domain 2provided by HGNC Primary source HGNC:HGNC:16921 See related Ensembl:ENSG00000135439 MIM:605476; AllianceGenome:HGNC:16921 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 PIKE; GGAP2; CENTG1 Summary The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, and promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Expression Biased expression in brain (RPKM 36.4), lymph node (RPKM 4.9) and 4 other tissues See more Orthologs mouse all
AGAP2-AS1, Official Symbol AGAP2-AS1provided by HGNC Official Full Name AGAP2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48633 See related Ensembl:ENSG00000255737 AllianceGenome:HGNC:48633 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 PUNISHER Summary Biomarker of lung non-small cell carcinoma; malignant astrocytoma; and stomach cancer. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 29.7), fat (RPKM 6.5) and 19 other tissues See more
AGAP3, Official Symbol AGAP3provided by HGNC Official Full Name ArfGAP with GTPase domain, ankyrin repeat and PH domain 3provided by HGNC Primary source HGNC:HGNC:16923 See related Ensembl:ENSG00000133612 MIM:616813; AllianceGenome:HGNC:16923 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 CRAG; AGAP-3; CENTG3; MRIP-1; cnt-g3 Summary This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses by linking activation of NMDA receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking. The encoded protein contains an N-terminal GTPase-like domain, a pleckstrin homology domain, an ArfGAP domain and several C-terminal ankryn repeat domains. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in brain (RPKM 17.1), lung (RPKM 9.1) and 25 other tissues See more Orthologs mouse all
AGAP4, Official Symbol AGAP4provided by HGNC Official Full Name ArfGAP with GTPase domain, ankyrin repeat and PH domain 4provided by HGNC Primary source HGNC:HGNC:23459 See related Ensembl:ENSG00000188234 AllianceGenome:HGNC:23459 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 AGAP8; MRIP2; AGAP-4; AGAP-8; CTGLF1; CTGLF5 Summary Predicted to enable GTPase activator activity and metal ion binding activity. Predicted to be involved in regulation of catalytic activity. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 6.1), skin (RPKM 5.3) and 25 other tissues See more Orthologs all
AGAP5, Official Symbol AGAP5provided by HGNC Official Full Name ArfGAP with GTPase domain, ankyrin repeat and PH domain 5provided by HGNC Primary source HGNC:HGNC:23467 See related Ensembl:ENSG00000172650 AllianceGenome:HGNC:23467 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 CTGLF2 Summary Predicted to enable GTPase activator activity and metal ion binding activity. Predicted to be involved in regulation of catalytic activity. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 13.9), skin (RPKM 9.7) and 25 other tissues See more Orthologs all
AGAP6, Official Symbol AGAP6provided by HGNC Official Full Name ArfGAP with GTPase domain, ankyrin repeat and PH domain 6provided by HGNC Primary source HGNC:HGNC:23466 See related Ensembl:ENSG00000204149 AllianceGenome:HGNC:23466 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 AGAP-6; CTGLF3 Summary Predicted to enable GTPase activator activity and metal ion binding activity. Predicted to be involved in regulation of catalytic activity. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 10.9), skin (RPKM 8.4) and 25 other tissues See more
AGAP9, Official Symbol AGAP9provided by HGNC Official Full Name ArfGAP with GTPase domain, ankyrin repeat and PH domain 9provided by HGNC Primary source HGNC:HGNC:23463 See related Ensembl:ENSG00000204172 AllianceGenome:HGNC:23463 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 AGAP-9; CTGLF6; bA301J7.2 Summary Predicted to enable GTPase activator activity and metal ion binding activity. Predicted to be involved in regulation of catalytic activity. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 15.8), skin (RPKM 15.2) and 25 other tissues See more Orthologs all
AGBL1, Official Symbol AGBL1provided by HGNC Official Full Name AGBL carboxypeptidase 1provided by HGNC Primary source HGNC:HGNC:26504 See related Ensembl:ENSG00000273540 MIM:615496; AllianceGenome:HGNC:26504 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 CCP4; FECD8 Summary Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013] Expression Low expression observed in reference dataset See more Orthologs mouse all
AGBL1-AS1, Official Symbol AGBL1-AS1provided by HGNC Official Full Name AGBL1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48617 See related Ensembl:ENSG00000260125 AllianceGenome:HGNC:48617 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 3.4) See more
AGBL2, Official Symbol AGBL2provided by HGNC Official Full Name AGBL carboxypeptidase 2provided by HGNC Primary source HGNC:HGNC:26296 See related Ensembl:ENSG00000165923 MIM:617345; AllianceGenome:HGNC:26296 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 CCP2 Summary Predicted to enable metallocarboxypeptidase activity. Predicted to be involved in protein side chain deglutamylation. Located in centriole and ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 8.5), lung (RPKM 1.3) and 7 other tissues See more Orthologs mouse all
AGBL3, Official Symbol AGBL3provided by HGNC Official Full Name AGBL carboxypeptidase 3provided by HGNC Primary source HGNC:HGNC:27981 See related Ensembl:ENSG00000146856 MIM:617346; AllianceGenome:HGNC:27981 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 CCP3 Summary Enables metallocarboxypeptidase activity. Involved in protein side chain deglutamylation. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 2.0), endometrium (RPKM 0.4) and 16 other tissues See more Orthologs mouse all
AGBL4, Official Symbol AGBL4provided by HGNC Official Full Name AGBL carboxypeptidase 4provided by HGNC Primary source HGNC:HGNC:25892 See related Ensembl:ENSG00000186094 MIM:616476; AllianceGenome:HGNC:25892 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 CCP6 Summary Predicted to enable metallocarboxypeptidase activity and tubulin binding activity. Predicted to be involved in C-terminal protein deglutamylation; defense response to virus; and protein side chain deglutamylation. Predicted to act upstream of or within several processes, including axonal transport of mitochondrion; positive regulation of ubiquitin-dependent protein catabolic process; and regulation of blastocyst development. Located in Golgi apparatus; centriole; and ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
AGBL4-AS1, Official Symbol AGBL4-AS1provided by HGNC Official Full Name AGBL4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41123 See related Ensembl:ENSG00000230114 AllianceGenome:HGNC:41123 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
AGBL4-IT1, Official Symbol AGBL4-IT1provided by HGNC Official Full Name AGBL4 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41482 See related Ensembl:ENSG00000225623 AllianceGenome:HGNC:41482 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
AGBL5, Official Symbol AGBL5provided by HGNC Official Full Name AGBL carboxypeptidase 5provided by HGNC Primary source HGNC:HGNC:26147 See related Ensembl:ENSG00000084693 MIM:615900; AllianceGenome:HGNC:26147 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 CCP5; RP75 Summary This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a "dual-functional" deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016] Expression Biased expression in testis (RPKM 145.3), thyroid (RPKM 14.3) and 7 other tissues See more Orthologs mouse all
AGBL5-AS1, Official Symbol AGBL5-AS1provided by HGNC Official Full Name AGBL5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41133 See related Ensembl:ENSG00000231636 AllianceGenome:HGNC:41133 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
AGBL5-IT1, Official Symbol AGBL5-IT1provided by HGNC Official Full Name AGBL5 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41484 See related AllianceGenome:HGNC:41484 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
AGER, Official Symbol AGERprovided by HGNC Official Full Name advanced glycosylation end-product specific receptorprovided by HGNC Primary source HGNC:HGNC:320 See related Ensembl:ENSG00000204305 MIM:600214; AllianceGenome:HGNC:320 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 RAGE; sRAGE; SCARJ1 Summary The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011] Expression Biased expression in lung (RPKM 397.6) and spleen (RPKM 11.0) See more Orthologs mouse all
AGFG1, Official Symbol AGFG1provided by HGNC Official Full Name ArfGAP with FG repeats 1provided by HGNC Primary source HGNC:HGNC:5175 See related Ensembl:ENSG00000173744 MIM:600862; AllianceGenome:HGNC:5175 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 HRB; RAB; RIP Summary The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] Expression Broad expression in bone marrow (RPKM 27.1), testis (RPKM 16.3) and 24 other tissues See more Orthologs mouse all