psui3905/ncbi_genes_summary huggingface dataset:
IRAK1BP1, Official Symbol IRAK1BP1provided by HGNC Official Full Name interleukin 1 receptor associated kinase 1 binding protein 1provided by HGNC Primary source HGNC:HGNC:17368 See related Ensembl:ENSG00000146243 MIM:615375; AllianceGenome:HGNC:17368 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 AIP70; SIMPL Summary Predicted to be involved in I-kappaB kinase/NF-kappaB signaling. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 2.2), thyroid (RPKM 1.5) and 25 other tissues See more Orthologs mouse all
IRAK2, Official Symbol IRAK2provided by HGNC Official Full Name interleukin 1 receptor associated kinase 2provided by HGNC Primary source HGNC:HGNC:6113 See related Ensembl:ENSG00000134070 MIM:603304; AllianceGenome:HGNC:6113 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 IRAK-2 Summary IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 8.0), urinary bladder (RPKM 5.9) and 22 other tissues See more Orthologs mouse all
IRAK3, Official Symbol IRAK3provided by HGNC Official Full Name interleukin 1 receptor associated kinase 3provided by HGNC Primary source HGNC:HGNC:17020 See related Ensembl:ENSG00000090376 MIM:604459; AllianceGenome:HGNC:17020 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 ASRT5; IRAKM Summary This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] Expression Broad expression in bone marrow (RPKM 10.8), spleen (RPKM 8.1) and 21 other tissues See more Orthologs mouse all
IRAK4, Official Symbol IRAK4provided by HGNC Official Full Name interleukin 1 receptor associated kinase 4provided by HGNC Primary source HGNC:HGNC:17967 See related Ensembl:ENSG00000198001 MIM:606883; AllianceGenome:HGNC:17967 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 IPD1; IMD67; REN64; IRAK-4; NY-REN-64 Summary This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in lymph node (RPKM 7.4), appendix (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
IREB2, Official Symbol IREB2provided by HGNC Official Full Name iron responsive element binding protein 2provided by HGNC Primary source HGNC:HGNC:6115 See related Ensembl:ENSG00000136381 MIM:147582; AllianceGenome:HGNC:6115 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 ACO3; IRP2; IRP2AD; NDCAMA; IRE-BP2; IRE-BP 2 Summary The protein encoded by this gene is an RNA-binding protein that acts to regulate iron levels in the cells by regulating the translation and stability of mRNAs that affect iron homeostasis under conditions when iron is depleted. When iron levels are low, this protein binds to iron-responsive elements (IRES), stem-loop structures located either in the 5' or 3' UTRs. Binding to the 5' UTR represses translation, while binding to the 3' UTR inhibits mRNA degradation. When iron is found in the cell, this protein is degraded in a F-box and leucine rich repeat protein 5-dependent manner. Variants in this gene have been associated with lung cancer and chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in thyroid (RPKM 9.5), adrenal (RPKM 8.3) and 25 other tissues See more Orthologs mouse all
IRF1, Official Symbol IRF1provided by HGNC Official Full Name interferon regulatory factor 1provided by HGNC Primary source HGNC:HGNC:6116 See related Ensembl:ENSG00000125347 MIM:147575; AllianceGenome:HGNC:6116 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 MAR; IRF-1 Summary The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the body's response to viruses and bacteria, playing a role in cell proliferation, apoptosis, the immune response, and DNA damage response. This protein represses the transcription of several other genes. As a tumor suppressor, it both suppresses tumor cell growth and stimulates an immune response against tumor cells. Defects in this gene have been associated with gastric cancer, myelogenous leukemia, and lung cancer. [provided by RefSeq, Aug 2017] Expression Broad expression in bone marrow (RPKM 34.6), appendix (RPKM 32.5) and 24 other tissues See more Orthologs mouse all
IRF2, Official Symbol IRF2provided by HGNC Official Full Name interferon regulatory factor 2provided by HGNC Primary source HGNC:HGNC:6117 See related Ensembl:ENSG00000168310 MIM:147576; AllianceGenome:HGNC:6117 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 IRF-2 Summary IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation of interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator of histone H4. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 28.3), lymph node (RPKM 28.2) and 25 other tissues See more Orthologs mouse all
IRF2BP1, Official Symbol IRF2BP1provided by HGNC Official Full Name interferon regulatory factor 2 binding protein 1provided by HGNC Primary source HGNC:HGNC:21728 See related Ensembl:ENSG00000170604 MIM:615331; AllianceGenome:HGNC:21728 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables transcription corepressor activity and ubiquitin protein ligase activity. Involved in protein polyubiquitination. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
IRF2BP2, Official Symbol IRF2BP2provided by HGNC Official Full Name interferon regulatory factor 2 binding protein 2provided by HGNC Primary source HGNC:HGNC:21729 See related Ensembl:ENSG00000168264 MIM:615332; AllianceGenome:HGNC:21729 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 CVID14 Summary This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 91.3), thyroid (RPKM 43.5) and 25 other tissues See more Orthologs mouse all
IRF2BPL, Official Symbol IRF2BPLprovided by HGNC Official Full Name interferon regulatory factor 2 binding protein likeprovided by HGNC Primary source HGNC:HGNC:14282 See related Ensembl:ENSG00000119669 MIM:611720; AllianceGenome:HGNC:14282 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 EAP1; C14orf4; NEDAMSS Summary This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012] Orthologs mouse all
IRF3, Official Symbol IRF3provided by HGNC Official Full Name interferon regulatory factor 3provided by HGNC Primary source HGNC:HGNC:6118 See related Ensembl:ENSG00000126456 MIM:603734; AllianceGenome:HGNC:6118 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 IIAE7 Summary This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. The protein plays an important role in the innate immune response against DNA and RNA viruses. Mutations in this gene are associated with Encephalopathy, acute, infection-induced, herpes-specific, 7. [provided by RefSeq, Sep 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Ubiquitous expression in spleen (RPKM 23.8), lymph node (RPKM 21.2) and 25 other tissues See more Orthologs mouse all
IRF4, Official Symbol IRF4provided by HGNC Official Full Name interferon regulatory factor 4provided by HGNC Primary source HGNC:HGNC:6119 See related Ensembl:ENSG00000137265 MIM:601900; AllianceGenome:HGNC:6119 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 MUM1; LSIRF; SHEP8; NF-EM5 Summary The protein encoded by this gene belongs to the IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes. This family member is lymphocyte specific and negatively regulates Toll-like-receptor (TLR) signaling that is central to the activation of innate and adaptive immune systems. A chromosomal translocation involving this gene and the IgH locus, t(6;14)(p25;q32), may be a cause of multiple myeloma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2010] Expression Broad expression in lymph node (RPKM 13.5), bone marrow (RPKM 12.6) and 14 other tissues See more Orthologs mouse all
IRF5, Official Symbol IRF5provided by HGNC Official Full Name interferon regulatory factor 5provided by HGNC Primary source HGNC:HGNC:6120 See related Ensembl:ENSG00000128604 MIM:607218; AllianceGenome:HGNC:6120 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 SLEB10 Summary This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative promoter use and alternative splicing result in multiple transcript variants, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Dec 2016] Expression Broad expression in spleen (RPKM 8.6), lymph node (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
IRF5P1, Official Symbol IRF5P1provided by HGNC Official Full Name interferon regulatory factor 5 pseudogene 1provided by HGNC Primary source HGNC:HGNC:41981 See related Ensembl:ENSG00000251347 AllianceGenome:HGNC:41981 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
IRF6, Official Symbol IRF6provided by HGNC Official Full Name interferon regulatory factor 6provided by HGNC Primary source HGNC:HGNC:6121 See related Ensembl:ENSG00000117595 MIM:607199; AllianceGenome:HGNC:6121 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 LPS; PIT; PPS; VWS; OFC6; PPS1; VWS1 Summary This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011] Expression Broad expression in skin (RPKM 34.2), esophagus (RPKM 31.3) and 19 other tissues See more Orthologs mouse all
IRF7, Official Symbol IRF7provided by HGNC Official Full Name interferon regulatory factor 7provided by HGNC Primary source HGNC:HGNC:6122 See related Ensembl:ENSG00000185507 MIM:605047; AllianceGenome:HGNC:6122 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 IMD39; IRF-7; IRF7A; IRF7B; IRF7C; IRF7H; IRF-7H Summary This gene encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. It has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. The encoded protein plays an important role in the innate immune response against DNA and RNA viruses. [provided by RefSeq, Jul 2021] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Broad expression in spleen (RPKM 16.7), lymph node (RPKM 8.9) and 24 other tissues See more Orthologs mouse all
IRF8, Official Symbol IRF8provided by HGNC Official Full Name interferon regulatory factor 8provided by HGNC Primary source HGNC:HGNC:5358 See related Ensembl:ENSG00000140968 MIM:601565; AllianceGenome:HGNC:5358 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 ICSBP; IRF-8; ICSBP1; IMD32A; IMD32B; H-ICSBP Summary Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region and a divergent C-terminal region that serves as the regulatory domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. [provided by RefSeq, Jul 2008] Expression Biased expression in lymph node (RPKM 108.4), spleen (RPKM 67.5) and 11 other tissues See more Orthologs mouse all
IRF9, Official Symbol IRF9provided by HGNC Official Full Name interferon regulatory factor 9provided by HGNC Primary source HGNC:HGNC:6131 See related Ensembl:ENSG00000213928 MIM:147574; AllianceGenome:HGNC:6131 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 p48; IRF-9; ISGF3; ISGF3G Summary This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Mutations in this gene result in Immunodeficiency 65. [provided by RefSeq, Jul 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Ubiquitous expression in spleen (RPKM 55.3), appendix (RPKM 34.4) and 25 other tissues See more Orthologs mouse all
IRGC, Official Symbol IRGCprovided by HGNC Official Full Name immunity related GTPase cinemaprovided by HGNC Primary source HGNC:HGNC:28835 See related Ensembl:ENSG00000124449 AllianceGenome:HGNC:28835 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 IFGGE; IRGC1; Iigp5; CINEMA; R30953_1 Summary Predicted to enable GTPase activity. Predicted to be involved in cellular response to interferon-beta and defense response. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 28.8) See more Orthologs mouse all
IRGM, Official Symbol IRGMprovided by HGNC Official Full Name immunity related GTPase Mprovided by HGNC Primary source HGNC:HGNC:29597 See related Ensembl:ENSG00000237693 MIM:608212; AllianceGenome:HGNC:29597 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 IFI1; IBD19; IRGM1; LRG47; LRG-47 Summary This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016] Expression Low expression observed in reference dataset See more Orthologs all
IRGQ, Official Symbol IRGQprovided by HGNC Official Full Name immunity related GTPase Qprovided by HGNC Primary source HGNC:HGNC:24868 See related Ensembl:ENSG00000167378 AllianceGenome:HGNC:24868 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 IRGQ1; FKSG27 Summary Predicted to enable GTP binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 3.6), bone marrow (RPKM 3.5) and 25 other tissues See more Orthologs mouse all
IRS1, Official Symbol IRS1provided by HGNC Official Full Name insulin receptor substrate 1provided by HGNC Primary source HGNC:HGNC:6125 See related Ensembl:ENSG00000169047 MIM:147545; AllianceGenome:HGNC:6125 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 HIRS-1 Summary This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009] Expression Broad expression in thyroid (RPKM 15.0), endometrium (RPKM 12.3) and 22 other tissues See more Orthologs mouse all
IRS2, Official Symbol IRS2provided by HGNC Official Full Name insulin receptor substrate 2provided by HGNC Primary source HGNC:HGNC:6126 See related Ensembl:ENSG00000185950 MIM:600797; AllianceGenome:HGNC:6126 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 IRS-2 Summary This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 24.6), fat (RPKM 23.1) and 23 other tissues See more Orthologs mouse all
IRS4, Official Symbol IRS4provided by HGNC Official Full Name insulin receptor substrate 4provided by HGNC Primary source HGNC:HGNC:6128 See related Ensembl:ENSG00000133124 MIM:300904; AllianceGenome:HGNC:6128 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 CHNG9; IRS-4; PY160 Summary IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation.. [provided by RefSeq, Jul 2008] Expression Biased expression in ovary (RPKM 3.0), thyroid (RPKM 1.0) and 3 other tissues See more Orthologs mouse all
IRX1, Official Symbol IRX1provided by HGNC Official Full Name iroquois homeobox 1provided by HGNC Primary source HGNC:HGNC:14358 See related Ensembl:ENSG00000170549 MIM:606197; AllianceGenome:HGNC:14358 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 IRX-5; IRXA1 Summary This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Dec 2011] Expression Biased expression in kidney (RPKM 2.5), salivary gland (RPKM 1.1) and 4 other tissues See more Orthologs mouse all
IRX2, Official Symbol IRX2provided by HGNC Official Full Name iroquois homeobox 2provided by HGNC Primary source HGNC:HGNC:14359 See related Ensembl:ENSG00000170561 MIM:606198; AllianceGenome:HGNC:14359 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 IRXA2 Summary IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004] Expression Biased expression in lung (RPKM 4.6), skin (RPKM 2.8) and 9 other tissues See more Orthologs mouse all
IRX3, Official Symbol IRX3provided by HGNC Official Full Name iroquois homeobox 3provided by HGNC Primary source HGNC:HGNC:14360 See related Ensembl:ENSG00000177508 MIM:612985; AllianceGenome:HGNC:14360 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 IRX-1; IRXB1 Summary IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation of vertebrate embryos (Lewis et al., 1999 [PubMed 10370142]).[supplied by OMIM, Aug 2009] Expression Biased expression in lung (RPKM 13.1), skin (RPKM 8.6) and 10 other tissues See more Orthologs mouse all
IRX4, Official Symbol IRX4provided by HGNC Official Full Name iroquois homeobox 4provided by HGNC Primary source HGNC:HGNC:6129 See related Ensembl:ENSG00000113430 MIM:606199; AllianceGenome:HGNC:6129 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 IRXA3 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in cell development; neuron differentiation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within heart development. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in prostate (RPKM 2.5), skin (RPKM 2.0) and 3 other tissues See more Orthologs mouse all
IRX5, Official Symbol IRX5provided by HGNC Official Full Name iroquois homeobox 5provided by HGNC Primary source HGNC:HGNC:14361 See related Ensembl:ENSG00000176842 MIM:606195; AllianceGenome:HGNC:14361 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 HMMS; IRXB2; IRX-2a Summary This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Expression Biased expression in lung (RPKM 4.8), skin (RPKM 3.3) and 10 other tissues See more Orthologs mouse all
IRX6, Official Symbol IRX6provided by HGNC Official Full Name iroquois homeobox 6provided by HGNC Primary source HGNC:HGNC:14675 See related Ensembl:ENSG00000159387 MIM:606196; AllianceGenome:HGNC:14675 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 IRX7; IRX-3; IRXB3 Summary Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription repressor activity, RNA polymerase II-specific; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in cell development; neuron differentiation; and regulation of transcription, DNA-templated. Predicted to act upstream of or within detection of visible light; negative regulation of transcription, DNA-templated; and retina morphogenesis in camera-type eye. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in fat (RPKM 7.9), heart (RPKM 3.1) and 5 other tissues See more Orthologs mouse all
ISCA1, Official Symbol ISCA1provided by HGNC Official Full Name iron-sulfur cluster assembly 1provided by HGNC Primary source HGNC:HGNC:28660 See related Ensembl:ENSG00000135070 MIM:611006; AllianceGenome:HGNC:28660 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 ISA1; HBLD2; MMDS5; hIscA; hIscA1 Summary ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in adrenal (RPKM 27.0), brain (RPKM 25.4) and 25 other tissues See more Orthologs mouse all
ISCA1P1, Official Symbol ISCA1P1provided by HGNC Official Full Name iron-sulfur cluster assembly 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:33263 See related AllianceGenome:HGNC:33263 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ISCA1L
ISCA2, Official Symbol ISCA2provided by HGNC Official Full Name iron-sulfur cluster assembly 2provided by HGNC Primary source HGNC:HGNC:19857 See related Ensembl:ENSG00000165898 MIM:615317; AllianceGenome:HGNC:19857 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 ISA2; HBLD1; MMDS4; c14_5557 Summary The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in kidney (RPKM 13.2), thyroid (RPKM 12.0) and 25 other tissues See more Orthologs mouse all
ISCU, Official Symbol ISCUprovided by HGNC Official Full Name iron-sulfur cluster assembly enzymeprovided by HGNC Primary source HGNC:HGNC:29882 See related Ensembl:ENSG00000136003 MIM:611911; AllianceGenome:HGNC:29882 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 HML; ISU2; NIFU; NIFUN; hnifU; 2310020H20Rik Summary This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in adrenal (RPKM 47.9), heart (RPKM 43.2) and 25 other tissues See more Orthologs mouse all
ISCUP1, Official Symbol ISCUP1provided by HGNC Official Full Name iron-sulfur cluster assembly enzyme pseudogene 1provided by HGNC Primary source HGNC:HGNC:38021 See related Ensembl:ENSG00000238051 AllianceGenome:HGNC:38021 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ISG15, Official Symbol ISG15provided by HGNC Official Full Name ISG15 ubiquitin like modifierprovided by HGNC Primary source HGNC:HGNC:4053 See related Ensembl:ENSG00000187608 MIM:147571; AllianceGenome:HGNC:4053 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 G1P2; IP17; UCRP; IFI15; IMD38; hUCRP Summary The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012] Expression Broad expression in salivary gland (RPKM 43.3), spleen (RPKM 35.3) and 22 other tissues See more Orthologs mouse all
ISG20, Official Symbol ISG20provided by HGNC Official Full Name interferon stimulated exonuclease gene 20provided by HGNC Primary source HGNC:HGNC:6130 See related Ensembl:ENSG00000172183 MIM:604533; AllianceGenome:HGNC:6130 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 CD25; HEM45 Summary Enables 3'-5' exonuclease activity and RNA binding activity. Involved in defense response to virus; negative regulation of viral genome replication; and nucleobase-containing compound catabolic process. Located in cytoplasm and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lymph node (RPKM 12.2), spleen (RPKM 8.7) and 13 other tissues See more Orthologs mouse all
ISG20L2, Official Symbol ISG20L2provided by HGNC Official Full Name interferon stimulated exonuclease gene 20 like 2provided by HGNC Primary source HGNC:HGNC:25745 See related Ensembl:ENSG00000143319 MIM:611930; AllianceGenome:HGNC:25745 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 HSD38 Summary This gene encodes a 3'-5' exoribonuclease that may be involved in the processing of the 12S pre-rRNA. Pseudogenes have been identified on chromosomes 6 and 11. [provided by RefSeq, Dec 2014] Expression Broad expression in testis (RPKM 30.7), lymph node (RPKM 8.1) and 24 other tissues See more Orthologs mouse all
ISL1, Official Symbol ISL1provided by HGNC Official Full Name ISL LIM homeobox 1provided by HGNC Primary source HGNC:HGNC:6132 See related Ensembl:ENSG00000016082 MIM:600366; AllianceGenome:HGNC:6132 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 Isl-1; ISLET1 Summary This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008] Expression Biased expression in prostate (RPKM 3.8), stomach (RPKM 3.1) and 9 other tissues See more Orthologs mouse all
ISL2, Official Symbol ISL2provided by HGNC Official Full Name ISL LIM homeobox 2provided by HGNC Primary source HGNC:HGNC:18524 See related Ensembl:ENSG00000159556 MIM:609481; AllianceGenome:HGNC:18524 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in axonogenesis; neuron fate specification; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of neuron differentiation and neuron differentiation. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
ISLR, Official Symbol ISLRprovided by HGNC Official Full Name immunoglobulin superfamily containing leucine rich repeatprovided by HGNC Primary source HGNC:HGNC:6133 See related Ensembl:ENSG00000129009 MIM:602059; AllianceGenome:HGNC:6133 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 Meflin; HsT17563 Summary Predicted to be involved in cell adhesion. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in endometrium (RPKM 88.5), ovary (RPKM 76.4) and 22 other tissues See more Orthologs mouse all
ISLR2, Official Symbol ISLR2provided by HGNC Official Full Name immunoglobulin superfamily containing leucine rich repeat 2provided by HGNC Primary source HGNC:HGNC:29286 See related Ensembl:ENSG00000167178 MIM:614179; AllianceGenome:HGNC:29286 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 LINX Summary Predicted to be involved in positive regulation of axon extension. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Predicted to be active in cell surface. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 4.7), testis (RPKM 3.0) and 5 other tissues See more Orthologs mouse all
ISM1, Official Symbol ISM1provided by HGNC Official Full Name isthmin 1provided by HGNC Primary source HGNC:HGNC:16213 See related Ensembl:ENSG00000101230 MIM:615793; AllianceGenome:HGNC:16213 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 ISM; Isthmin; C20orf82; bA149I18.1; dJ1077I2.1 Summary Predicted to be involved in negative regulation of angiogenesis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in thyroid (RPKM 10.3), placenta (RPKM 5.3) and 12 other tissues See more Orthologs mouse all
ISM1-AS1, Official Symbol ISM1-AS1provided by HGNC Official Full Name ISM1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44313 See related AllianceGenome:HGNC:44313 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
ISM2, Official Symbol ISM2provided by HGNC Official Full Name isthmin 2provided by HGNC Primary source HGNC:HGNC:23176 See related Ensembl:ENSG00000100593 MIM:612684; AllianceGenome:HGNC:23176 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 TAIL1; THSD3 Summary The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Mar 2009] Expression Restricted expression toward placenta (RPKM 113.4) See more Orthologs mouse all
ISOC1, Official Symbol ISOC1provided by HGNC Official Full Name isochorismatase domain containing 1provided by HGNC Primary source HGNC:HGNC:24254 See related Ensembl:ENSG00000066583 AllianceGenome:HGNC:24254 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 CGI-111 Summary Predicted to be located in peroxisome. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 57.7), liver (RPKM 27.5) and 24 other tissues See more Orthologs mouse all
ISOC2, Official Symbol ISOC2provided by HGNC Official Full Name isochorismatase domain containing 2provided by HGNC Primary source HGNC:HGNC:26278 See related Ensembl:ENSG00000063241 MIM:612928; AllianceGenome:HGNC:26278 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 Involved in protein destabilization. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 36.5), liver (RPKM 23.7) and 25 other tissues See more Orthologs mouse all
IST1, Official Symbol IST1provided by HGNC Official Full Name IST1 factor associated with ESCRT-IIIprovided by HGNC Primary source HGNC:HGNC:28977 See related Ensembl:ENSG00000182149 MIM:616434; AllianceGenome:HGNC:28977 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 OLC1; CHMP8 Summary This gene encodes a protein with MIT-interacting motifs that interacts with components of endosomal sorting complexes required for transport (ESCRT). ESCRT functions in vesicle budding, such as that which occurs during membrane abscission in cytokinesis. There is a pseudogene for this gene on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] Expression Ubiquitous expression in bone marrow (RPKM 49.3), gall bladder (RPKM 37.7) and 25 other tissues See more Orthologs mouse all
ISX, Official Symbol ISXprovided by HGNC Official Full Name intestine specific homeoboxprovided by HGNC Primary source HGNC:HGNC:28084 See related Ensembl:ENSG00000175329 MIM:612019; AllianceGenome:HGNC:28084 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 Pix-1; RAXLX Summary Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the RAXLX homeobox gene family. [provided by RefSeq, Jul 2008] Expression Biased expression in duodenum (RPKM 20.1), colon (RPKM 15.2) and 1 other tissue See more Orthologs mouse all
ISY1, Official Symbol ISY1provided by HGNC Official Full Name ISY1 splicing factor homologprovided by HGNC Primary source HGNC:HGNC:29201 See related Ensembl:ENSG00000240682 MIM:612764; AllianceGenome:HGNC:29201 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 FSAP33 Summary Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleus. Part of U2-type catalytic step 1 spliceosome and catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 10.5), lymph node (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
ISY1-RAB43, Official Symbol ISY1-RAB43provided by HGNC Official Full Name ISY1-RAB43 readthroughprovided by HGNC Primary source HGNC:HGNC:42969 See related Ensembl:ENSG00000261796 AllianceGenome:HGNC:42969 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 ISY1 Summary This locus represents naturally occurring read-through transcription between the neighboring ISY1 (ISY1 splicing factor homolog) and RAB43 (RAB43, member RAS oncogene family) gene on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to a frameshift relative to the downstream gene. [provided by RefSeq, Mar 2011] Expression Ubiquitous expression in thyroid (RPKM 21.3), lung (RPKM 14.4) and 25 other tissues See more