psui3905/ncbi_genes_summary huggingface dataset:
IFNAR1, Official Symbol IFNAR1provided by HGNC Official Full Name interferon alpha and beta receptor subunit 1provided by HGNC Primary source HGNC:HGNC:5432 See related Ensembl:ENSG00000142166 MIM:107450; AllianceGenome:HGNC:5432 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 AVP; IFRC; IFNAR; IFNBR; IMD106; IFN-alpha-REC Summary The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The protein belongs to the type II cytokine receptor family and functions as an antiviral factor. [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 thyroid (RPKM 14.1), urinary bladder (RPKM 11.9) and 25 other tissues See more Orthologs mouse all
IFNAR2, Official Symbol IFNAR2provided by HGNC Official Full Name interferon alpha and beta receptor subunit 2provided by HGNC Primary source HGNC:HGNC:5433 See related Ensembl:ENSG00000159110 MIM:602376; AllianceGenome:HGNC:5433 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 IFN-R; IMD45; IFNABR; IFNARB; IFN-R-2; IFN-alpha-REC Summary The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The protein belongs to the type II cytokine receptor family. Mutations in this gene are associated with Immunodeficiency 45. [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 13.0), appendix (RPKM 12.7) and 24 other tissues See more Orthologs mouse all
IFNB1, Official Symbol IFNB1provided by HGNC Official Full Name interferon beta 1provided by HGNC Primary source HGNC:HGNC:5434 See related Ensembl:ENSG00000171855 MIM:147640; AllianceGenome:HGNC:5434 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 IFB; IFF; IFNB; IFN-beta Summary This gene encodes a cytokine that belongs to the interferon family of signaling proteins, which are released as part of the innate immune response to pathogens. The protein encoded by this gene belongs to the type I class of interferons, which are important for defense against viral infections. In addition, type I interferons are involved in cell differentiation and anti-tumor defenses. Following secretion in response to a pathogen, type I interferons bind a homologous receptor complex and induce transcription of genes such as those encoding inflammatory cytokines and chemokines. Overactivation of type I interferon secretion is linked to autoimmune diseases. Mice deficient for this gene display several phenotypes including defects in B cell maturation and increased susceptibility to viral infection. [provided by RefSeq, Sep 2015] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response. Orthologs mouse all
IFNE, Official Symbol IFNEprovided by HGNC Official Full Name interferon epsilonprovided by HGNC Primary source HGNC:HGNC:18163 See related Ensembl:ENSG00000184995 MIM:615223; AllianceGenome:HGNC:18163 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 IFN-E; IFNE1; IFNT1; INFE1; PRO655 Summary Predicted to enable cytokine activity and type I interferon receptor binding activity. Predicted to be involved in several processes, including B cell activation; defense response to other organism; and lymphocyte activation involved in immune response. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
IFNG, Official Symbol IFNGprovided by HGNC Official Full Name interferon gammaprovided by HGNC Primary source HGNC:HGNC:5438 See related Ensembl:ENSG00000111537 MIM:147570; AllianceGenome:HGNC:5438 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 IFG; IFI; IMD69 Summary This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor which triggers a cellular response to viral and microbial infections. Mutations in this gene are associated with an increased susceptibility to viral, bacterial and parasitic infections and to several autoimmune diseases. [provided by RefSeq, Dec 2015] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response. Expression Biased expression in bone marrow (RPKM 3.6), lymph node (RPKM 3.2) and 8 other tissues See more Orthologs mouse all
IFNG-AS1, Official Symbol IFNG-AS1provided by HGNC Official Full Name IFNG antisense RNA 1provided by HGNC Primary source HGNC:HGNC:43910 See related Ensembl:ENSG00000255733 AllianceGenome:HGNC:43910 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 NEST; Tmevpg1; GS1-410F4.2 Expression Biased expression in lymph node (RPKM 3.8), appendix (RPKM 1.7) and 7 other tissues See more Orthologs mouse all
IFNGR1, Official Symbol IFNGR1provided by HGNC Official Full Name interferon gamma receptor 1provided by HGNC Primary source HGNC:HGNC:5439 See related Ensembl:ENSG00000027697 MIM:107470; AllianceGenome:HGNC:5439 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 CD119; IFNGR; IMD27A; IMD27B Summary This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 51.4), fat (RPKM 48.1) and 25 other tissues See more Orthologs mouse all
IFNGR2, Official Symbol IFNGR2provided by HGNC Official Full Name interferon gamma receptor 2provided by HGNC Primary source HGNC:HGNC:5440 See related Ensembl:ENSG00000159128 MIM:147569; AllianceGenome:HGNC:5440 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 AF-1; IFGR2; IMD28; IFNGT1 Summary This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 30.0), appendix (RPKM 25.4) and 25 other tissues See more Orthologs mouse all
IFNK, Official Symbol IFNKprovided by HGNC Official Full Name interferon kappaprovided by HGNC Primary source HGNC:HGNC:21714 See related Ensembl:ENSG00000147896 MIM:615326; AllianceGenome:HGNC:21714 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 IFNT1; INFE1 Summary This gene encodes a member of the type I interferon family. Type I interferons are a group of related glycoproteins that play an important role in host defenses against viral infections. This protein is expressed in keratinocytes and the gene is found on chromosome 9, adjacent to the type I interferon cluster. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
IFNL1, Official Symbol IFNL1provided by HGNC Official Full Name interferon lambda 1provided by HGNC Primary source HGNC:HGNC:18363 See related Ensembl:ENSG00000182393 MIM:607403; AllianceGenome:HGNC:18363 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 IL29; IL-29 Summary This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 28B (IL28B) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
IFNL2, Official Symbol IFNL2provided by HGNC Official Full Name interferon lambda 2provided by HGNC Primary source HGNC:HGNC:18364 See related Ensembl:ENSG00000183709 MIM:607401; AllianceGenome:HGNC:18364 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 IL28A; IFNL2a; IFNL3a; IL-28A Summary This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28B (IL28B), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more
IFNL3, Official Symbol IFNL3provided by HGNC Official Full Name interferon lambda 3provided by HGNC Primary source HGNC:HGNC:18365 See related Ensembl:ENSG00000197110 MIM:607402; AllianceGenome:HGNC:18365 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 IL28B; IL28C; IL-28B; IL-28C; IFN-lambda-3; IFN-lambda-4 Summary This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
IFNL4, Official Symbol IFNL4provided by HGNC Official Full Name interferon lambda 4 (gene/pseudogene)provided by HGNC Primary source HGNC:HGNC:44480 See related Ensembl:ENSG00000272395 MIM:615090; AllianceGenome:HGNC:44480 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 IFNAN Summary This gene is a polymorphic pseudogene which, in some humans, encodes the interferon (IFN) lambda 4 protein. Humans are polymorphic for the dinucleotide TT/deltaG allele. Compared to the ancestral state in non-human primates, the TT allele produces a frameshift in the coding region of this gene which is predicted to induce nonsense-mediated mRNA decay. This allele, and an allele in the first intron of this gene, have experienced a rapid increase in frequency and show indications of positive selection. The ancestral states of these alleles are associated with an impaired ability to clear hepatitis C virus. This gene, like other type III interferons (IFNs), interacts with the IFN lambda receptor complex (IFNLR) whose signaling is generally restricted to epithelial cells. This gene resides in a cluster of four type III IFN genes and at least two pseudogenes on chromosome 19q13.2. In general, interferons are produced in response to viral infection and block viral replication and propagation to uninfected cells by activating the JAK-STAT pathway and up-regulating antiviral genes. Multiple alternatively spliced transcripts have been described for this gene but their biological validity and protein coding status is still being ascertained. [provided by RefSeq, May 2017] Annotation information Annotation category: suggests misassembly Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Low expression observed in reference dataset See more
IFNLR1, Official Symbol IFNLR1provided by HGNC Official Full Name interferon lambda receptor 1provided by HGNC Primary source HGNC:HGNC:18584 See related Ensembl:ENSG00000185436 MIM:607404; AllianceGenome:HGNC:18584 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 IFNLR; LICR2; IL28RA; CRF2/12; IL-28R1 Summary The protein encoded by this gene belongs to the class II cytokine receptor family. This protein forms a receptor complex with interleukine 10 receptor, beta (IL10RB). The receptor complex has been shown to interact with three closely related cytokines, including interleukin 28A (IL28A), interleukin 28B (IL28B), and interleukin 29 (IL29). The expression of all three cytokines can be induced by viral infection. The cells overexpressing this protein have been found to have enhanced responses to IL28A and IL29, but decreased response to IL28B. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] Expression Broad expression in small intestine (RPKM 5.6), lymph node (RPKM 4.0) and 22 other tissues See more Orthologs mouse all
IFNNP1, Official Symbol IFNNP1provided by HGNC Official Full Name interferon nu 1, pseudogeneprovided by HGNC Primary source HGNC:HGNC:32009 See related Ensembl:ENSG00000230208 AllianceGenome:HGNC:32009 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
IFNW1, Official Symbol IFNW1provided by HGNC Official Full Name interferon omega 1provided by HGNC Primary source HGNC:HGNC:5448 See related Ensembl:ENSG00000177047 MIM:147553; AllianceGenome:HGNC:5448 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene is an interferon and possesses antiviral activity. The encoded protein binds to the interferon alpha/beta receptor but not to the interferon gamma receptor. This intronless gene has several pseudogenes spread throughout the genome. [provided by RefSeq, Nov 2015] Orthologs all
IFNWP18, Official Symbol IFNWP18provided by HGNC Official Full Name interferon omega 1 pseudogene 18provided by HGNC Primary source HGNC:HGNC:5450 See related Ensembl:ENSG00000223684 AllianceGenome:HGNC:5450 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 LEIF-M
IFNWP19, Official Symbol IFNWP19provided by HGNC Official Full Name interferon omega 1 pseudogene 19provided by HGNC Primary source HGNC:HGNC:5451 See related Ensembl:ENSG00000238271 AllianceGenome:HGNC:5451 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
IFNWP5, Official Symbol IFNWP5provided by HGNC Official Full Name interferon omega 1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:5454 See related Ensembl:ENSG00000232138 AllianceGenome:HGNC:5454 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
IFNWP9, Official Symbol IFNWP9provided by HGNC Official Full Name interferon omega 1 pseudogene 9provided by HGNC Primary source HGNC:HGNC:5455 See related Ensembl:ENSG00000226597 AllianceGenome:HGNC:5455 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
IFRD1, Official Symbol IFRD1provided by HGNC Official Full Name interferon related developmental regulator 1provided by HGNC Primary source HGNC:HGNC:5456 See related Ensembl:ENSG00000006652 MIM:603502; AllianceGenome:HGNC:5456 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 PC4; TIS7 Summary This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] Expression Ubiquitous expression in bone marrow (RPKM 30.1), pancreas (RPKM 9.7) and 25 other tissues See more Orthologs mouse all
IFRD2, Official Symbol IFRD2provided by HGNC Official Full Name interferon related developmental regulator 2provided by HGNC Primary source HGNC:HGNC:5457 See related Ensembl:ENSG00000214706 MIM:602725; AllianceGenome:HGNC:5457 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 SM15; IFNRP; SKMc15 Summary Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in stomach (RPKM 16.0), thyroid (RPKM 14.2) and 25 other tissues See more Orthologs mouse all
IFT122, Official Symbol IFT122provided by HGNC Official Full Name intraflagellar transport 122provided by HGNC Primary source HGNC:HGNC:13556 See related Ensembl:ENSG00000163913 MIM:606045; AllianceGenome:HGNC:13556 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 CED; SPG; CED1; FAP80; WDR10; CFAP80; WDR10p; WDR140 Summary This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] Expression Broad expression in testis (RPKM 41.7), ovary (RPKM 7.5) and 15 other tissues See more Orthologs mouse all
IFT140, Official Symbol IFT140provided by HGNC Official Full Name intraflagellar transport 140provided by HGNC Primary source HGNC:HGNC:29077 See related Ensembl:ENSG00000187535 MIM:614620; AllianceGenome:HGNC:29077 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 RP80; MZSDS; SRTD9; WDTC2; gs114; c305C8.4; c380F5.1 Summary This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012] Expression Broad expression in testis (RPKM 6.4), thyroid (RPKM 4.0) and 24 other tissues See more Orthologs mouse all
IFT172, Official Symbol IFT172provided by HGNC Official Full Name intraflagellar transport 172provided by HGNC Primary source HGNC:HGNC:30391 See related Ensembl:ENSG00000138002 MIM:607386; AllianceGenome:HGNC:30391 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 SLB; wim; RP71; BBS20; osm-1; NPHP17; SRTD10 Summary This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014] Expression Broad expression in testis (RPKM 10.6), ovary (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
IFT20, Official Symbol IFT20provided by HGNC Official Full Name intraflagellar transport 20provided by HGNC Primary source HGNC:HGNC:30989 See related Ensembl:ENSG00000109083 MIM:614394; AllianceGenome:HGNC:30989 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a intraflagellar transport protein important for intracellular transport. The encoded protein forms part of a complex involved in trafficking of proteins from the Golgi body, including recycling of immune signalling components (Finetti et al., PubMed: 19855387). This gene is part of a complex set of sense-antisense loci that may be co-regulated. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 14.[provided by RefSeq, Jun 2012] Expression Broad expression in testis (RPKM 51.9), liver (RPKM 45.8) and 25 other tissues See more Orthologs mouse all
IFT22, Official Symbol IFT22provided by HGNC Official Full Name intraflagellar transport 22provided by HGNC Primary source HGNC:HGNC:21895 See related Ensembl:ENSG00000128581 AllianceGenome:HGNC:21895 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 FAP9; CFAP9; RABL5 Summary Predicted to enable GTPase activity. Predicted to be involved in intracellular protein transport. Predicted to be located in ciliary tip. Predicted to be part of intraciliary transport particle B. Predicted to be active in endomembrane system. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 22.2), thyroid (RPKM 11.1) and 21 other tissues See more Orthologs mouse all
IFT25, Official Symbol IFT25provided by HGNC Official Full Name intraflagellar transport 25provided by HGNC Primary source HGNC:HGNC:25019 See related Ensembl:ENSG00000081870 AllianceGenome:HGNC:25019 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 PP25; FAP232; HSPB11; C1orf41; CFAP232; HSPCO34 Summary Predicted to enable metal ion binding activity. Predicted to be involved in kidney development and spermatogenesis. Predicted to act upstream of or within animal organ development; left/right axis specification; and skeletal system development. Predicted to be located in ciliary tip. Predicted to be part of intraciliary transport particle B. Predicted to be active in centrosome and cilium. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 22.0), lymph node (RPKM 13.3) and 25 other tissues See more Orthologs mouse all
IFT27, Official Symbol IFT27provided by HGNC Official Full Name intraflagellar transport 27provided by HGNC Primary source HGNC:HGNC:18626 See related Ensembl:ENSG00000100360 MIM:615870; AllianceGenome:HGNC:18626 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 RAYL; BBS19; RABL4; FAP156; CFAP156 Summary This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in testis (RPKM 6.3), prostate (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
IFT43, Official Symbol IFT43provided by HGNC Official Full Name intraflagellar transport 43provided by HGNC Primary source HGNC:HGNC:29669 See related Ensembl:ENSG00000119650 MIM:614068; AllianceGenome:HGNC:29669 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 CED3; RP81; SRTD18; C14orf179 Summary This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in testis (RPKM 8.4), thyroid (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
IFT46, Official Symbol IFT46provided by HGNC Official Full Name intraflagellar transport 46provided by HGNC Primary source HGNC:HGNC:26146 See related Ensembl:ENSG00000118096 AllianceGenome:HGNC:26146 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 FAP32; CFAP32; C11orf2; C11orf60 Summary Predicted to enable protein C-terminus binding activity. Predicted to be involved in cilium assembly; intraciliary transport; and protein stabilization. Predicted to act upstream of or within smoothened signaling pathway. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 6.3), thyroid (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
IFT52, Official Symbol IFT52provided by HGNC Official Full Name intraflagellar transport 52provided by HGNC Primary source HGNC:HGNC:15901 See related Ensembl:ENSG00000101052 MIM:617094; AllianceGenome:HGNC:15901 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 NGD2; NGD5; CGI-53; C20orf9 Summary This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in testis (RPKM 15.9), thyroid (RPKM 13.4) and 25 other tissues See more Orthologs mouse all
IFT57, Official Symbol IFT57provided by HGNC Official Full Name intraflagellar transport 57provided by HGNC Primary source HGNC:HGNC:17367 See related Ensembl:ENSG00000114446 MIM:606621; AllianceGenome:HGNC:17367 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 HIPPI; OFD18; MHS4R2; ESRRBL1 Summary Predicted to enable DNA binding activity. Acts upstream of or within activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; and regulation of apoptotic process. Predicted to be located in ciliary basal body. Predicted to be part of axoneme and intraciliary transport particle B. Predicted to be active in Golgi apparatus; centrosome; and cilium. Implicated in orofaciodigital syndrome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 34.1), lung (RPKM 27.3) and 24 other tissues See more Orthologs mouse all
IFT74, Official Symbol IFT74provided by HGNC Official Full Name intraflagellar transport 74provided by HGNC Primary source HGNC:HGNC:21424 See related Ensembl:ENSG00000096872 MIM:608040; AllianceGenome:HGNC:21424 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 CMG1; BBS22; CCDC2; CMG-1; JBTS40; SPGF58 Summary This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays between the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome. [provided by RefSeq, Mar 2017] Expression Broad expression in testis (RPKM 6.8), thyroid (RPKM 3.2) and 24 other tissues See more Orthologs mouse all
IFT74-AS1, Official Symbol IFT74-AS1provided by HGNC Official Full Name IFT74 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:49806 See related Ensembl:ENSG00000234676 AllianceGenome:HGNC:49806 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
IFT80, Official Symbol IFT80provided by HGNC Official Full Name intraflagellar transport 80provided by HGNC Primary source HGNC:HGNC:29262 See related Ensembl:ENSG00000068885 MIM:611177; AllianceGenome:HGNC:29262 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 ATD2; SRTD2; WDR56; FAP167; CFAP167 Summary The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010] Expression Ubiquitous expression in testis (RPKM 12.7), brain (RPKM 10.4) and 25 other tissues See more Orthologs mouse all
IFT81, Official Symbol IFT81provided by HGNC Official Full Name intraflagellar transport 81provided by HGNC Primary source HGNC:HGNC:14313 See related Ensembl:ENSG00000122970 MIM:605489; AllianceGenome:HGNC:14313 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 DV1; CDV1; CDV-1; CDV1R; CDV-1R; SRTD19 Summary The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016] Expression Broad expression in testis (RPKM 13.7), thyroid (RPKM 5.6) and 23 other tissues See more Orthologs mouse all
IFT88, Official Symbol IFT88provided by HGNC Official Full Name intraflagellar transport 88provided by HGNC Primary source HGNC:HGNC:20606 See related Ensembl:ENSG00000032742 MIM:600595; AllianceGenome:HGNC:20606 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 DAF19; TG737; TTC10; hTg737; D13S1056E Summary This gene encodes a member of the tetratrico peptide repeat (TPR) family. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2017] Expression Broad expression in testis (RPKM 23.5), thyroid (RPKM 6.6) and 19 other tissues See more Orthologs mouse all
IFTAP, Official Symbol IFTAPprovided by HGNC Official Full Name intraflagellar transport associated proteinprovided by HGNC Primary source HGNC:HGNC:25142 See related Ensembl:ENSG00000166352 MIM:619270; AllianceGenome:HGNC:25142 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 NWC; HEPIS; C11orf74 Summary This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] Expression Broad expression in thyroid (RPKM 26.2), testis (RPKM 16.8) and 22 other tissues See more Orthologs mouse all
IGBP1, Official Symbol IGBP1provided by HGNC Official Full Name immunoglobulin binding protein 1provided by HGNC Primary source HGNC:HGNC:5461 See related Ensembl:ENSG00000089289 MIM:300139; AllianceGenome:HGNC:5461 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 IBP1; MRXS28; alpha4; ALPHA-4 Summary The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex. Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR complex and leads to multiple signal transduction pathways. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 49.2), thyroid (RPKM 31.5) and 25 other tissues See more Orthologs mouse all
IGBP1-AS2, Official Symbol IGBP1-AS2provided by HGNC Official Full Name IGBP1 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:40294 See related AllianceGenome:HGNC:40294 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
IGBP1P1, Official Symbol IGBP1P1provided by HGNC Official Full Name IGBP1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:19709 See related AllianceGenome:HGNC:19709 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 C14orf19
IGBP1P3, Official Symbol IGBP1P3provided by HGNC Official Full Name IGBP1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:43612 See related Ensembl:ENSG00000231552 AllianceGenome:HGNC:43612 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
IGBP1P5, Official Symbol IGBP1P5provided by HGNC Official Full Name IGBP1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:43614 See related Ensembl:ENSG00000250858 AllianceGenome:HGNC:43614 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
IGDCC3, Official Symbol IGDCC3provided by HGNC Official Full Name immunoglobulin superfamily DCC subclass member 3provided by HGNC Primary source HGNC:HGNC:9700 See related Ensembl:ENSG00000174498 MIM:604184; AllianceGenome:HGNC:9700 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 PUNC; HsT18880 Summary Predicted to act upstream of or within neuromuscular process controlling balance. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in placenta (RPKM 4.0), testis (RPKM 2.0) and 4 other tissues See more Orthologs mouse all
IGDCC4, Official Symbol IGDCC4provided by HGNC Official Full Name immunoglobulin superfamily DCC subclass member 4provided by HGNC Primary source HGNC:HGNC:13770 See related Ensembl:ENSG00000103742 MIM:616810; AllianceGenome:HGNC:13770 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 NOPE; DDM36 Summary Predicted to be located in plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in ovary (RPKM 6.3), placenta (RPKM 5.2) and 17 other tissues See more Orthologs mouse all
IGF1, Official Symbol IGF1provided by HGNC Official Full Name insulin like growth factor 1provided by HGNC Primary source HGNC:HGNC:5464 See related Ensembl:ENSG00000017427 MIM:147440; AllianceGenome:HGNC:5464 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 IGF; MGF; IGFI; IGF-I Summary The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015] Expression Broad expression in endometrium (RPKM 7.0), fat (RPKM 6.3) and 18 other tissues See more Orthologs mouse all
IGF1R, Official Symbol IGF1Rprovided by HGNC Official Full Name insulin like growth factor 1 receptorprovided by HGNC Primary source HGNC:HGNC:5465 See related Ensembl:ENSG00000140443 MIM:147370; AllianceGenome:HGNC:5465 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 IGFR; CD221; IGFIR; JTK13 Summary This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] Expression Ubiquitous expression in kidney (RPKM 8.9), ovary (RPKM 8.7) and 24 other tissues See more Orthologs mouse all
IGF2, Official Symbol IGF2provided by HGNC Official Full Name insulin like growth factor 2provided by HGNC Primary source HGNC:HGNC:5466 See related Ensembl:ENSG00000167244 MIM:147470; AllianceGenome:HGNC:5466 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 GRDF; SRS3; IGF-II; PP9974; C11orf43 Summary This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] Expression Biased expression in placenta (RPKM 1052.5) and liver (RPKM 86.0) See more Orthologs mouse all
IGF2-AS, Official Symbol IGF2-ASprovided by HGNC Official Full Name IGF2 antisense RNAprovided by HGNC Primary source HGNC:HGNC:14062 See related Ensembl:ENSG00000099869 MIM:610146; AllianceGenome:HGNC:14062 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 PEG8; IGF2AS; IGF2-AS1 Summary This gene is expressed in antisense to the insulin-like growth factor 2 (IGF2) gene and is imprinted and paternally expressed. It is thought to be non-coding because the putative protein is not conserved and translation is predicted to trigger nonsense mediated decay (NMD). Transcripts from this gene are produced in tumors and may function to suppress cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015] Expression Biased expression in placenta (RPKM 5.4), liver (RPKM 4.4) and 3 other tissues See more Orthologs mouse all
IGF2BP1, Official Symbol IGF2BP1provided by HGNC Official Full Name insulin like growth factor 2 mRNA binding protein 1provided by HGNC Primary source HGNC:HGNC:28866 See related Ensembl:ENSG00000159217 MIM:608288; AllianceGenome:HGNC:28866 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 IMP1; ZBP1; CRDBP; IMP-1; CRD-BP; VICKZ1 Summary This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Annotation information Note: ZBP1 (GeneID: 81030) and IGF2BP1 (GeneID:10642) share the ZBP1 symbol/alias in common. ZBP1 is a widely used alternative name for insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), which can be confused with the official symbol for ZBP1, Z-DNA binding protein 1 (ZBP1). [09 Aug 2021] Expression Biased expression in testis (RPKM 3.6), placenta (RPKM 2.9) and 1 other tissue See more Orthologs mouse all