psui3905/ncbi_genes_summary huggingface dataset:
ITIH4, Official Symbol ITIH4provided by HGNC Official Full Name inter-alpha-trypsin inhibitor heavy chain 4provided by HGNC Primary source HGNC:HGNC:6169 See related Ensembl:ENSG00000055955 MIM:600564; AllianceGenome:HGNC:6169 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 H4P; IHRP; GP120; PK120; ITIHL1; PK-120; ITI-HC4 Summary The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] Expression Restricted expression toward liver (RPKM 556.7) See more Orthologs mouse all
ITIH4-AS1, Official Symbol ITIH4-AS1provided by HGNC Official Full Name ITIH4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40310 See related Ensembl:ENSG00000239799 AllianceGenome:HGNC:40310 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in liver (RPKM 235.9) and bone marrow (RPKM 3.6) See more
ITIH5, Official Symbol ITIH5provided by HGNC Official Full Name inter-alpha-trypsin inhibitor heavy chain 5provided by HGNC Primary source HGNC:HGNC:21449 See related Ensembl:ENSG00000123243 MIM:609783; AllianceGenome:HGNC:21449 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 ITI-HC5; PP14776 Summary This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] Expression Broad expression in fat (RPKM 49.7), placenta (RPKM 32.8) and 18 other tissues See more Orthologs mouse all
ITIH6, Official Symbol ITIH6provided by HGNC Official Full Name inter-alpha-trypsin inhibitor heavy chain family member 6provided by HGNC Primary source HGNC:HGNC:28907 See related Ensembl:ENSG00000102313 AllianceGenome:HGNC:28907 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 ITIH5L; UNQ6369; dJ14O9.1 Summary The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
ITK, Official Symbol ITKprovided by HGNC Official Full Name IL2 inducible T cell kinaseprovided by HGNC Primary source HGNC:HGNC:6171 See related Ensembl:ENSG00000113263 MIM:186973; AllianceGenome:HGNC:6171 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 EMT; LYK; LPFS1; PSCTK2 Summary This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008] Expression Biased expression in lymph node (RPKM 23.9), appendix (RPKM 14.7) and 9 other tissues See more Orthologs mouse all
ITLN1, Official Symbol ITLN1provided by HGNC Official Full Name intelectin 1provided by HGNC Primary source HGNC:HGNC:18259 See related Ensembl:ENSG00000179914 MIM:609873; AllianceGenome:HGNC:18259 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 HL1; LFR; HL-1; INTL; ITLN; hIntL; omentin Summary Enables calcium ion binding activity; identical protein binding activity; and oligosaccharide binding activity. Involved in positive regulation of glucose import; positive regulation of protein phosphorylation; and protein homotrimerization. Located in extracellular exosome. Part of receptor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in colon (RPKM 361.8), small intestine (RPKM 202.0) and 3 other tissues See more Orthologs mouse all
ITLN2, Official Symbol ITLN2provided by HGNC Official Full Name intelectin 2provided by HGNC Primary source HGNC:HGNC:20599 See related Ensembl:ENSG00000158764 MIM:609874; AllianceGenome:HGNC:20599 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 HL2; HL-2 Summary Predicted to enable oligosaccharide binding activity. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in small intestine (RPKM 141.3), duodenum (RPKM 79.7) and 1 other tissue See more Orthologs all
ITM2A, Official Symbol ITM2Aprovided by HGNC Official Full Name integral membrane protein 2Aprovided by HGNC Primary source HGNC:HGNC:6173 See related Ensembl:ENSG00000078596 MIM:300222; AllianceGenome:HGNC:6173 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 E25A; BRICD2A Summary This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] Expression Ubiquitous expression in ovary (RPKM 64.9), thyroid (RPKM 48.1) and 23 other tissues See more Orthologs mouse all
ITM2B, Official Symbol ITM2Bprovided by HGNC Official Full Name integral membrane protein 2Bprovided by HGNC Primary source HGNC:HGNC:6174 See related Ensembl:ENSG00000136156 MIM:603904; AllianceGenome:HGNC:6174 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 BRI; FBD; ABRI; BRI2; E25B; E3-16; RDGCA; imBRI2; BRICD2B Summary Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in kidney (RPKM 762.1), placenta (RPKM 503.6) and 25 other tissues See more Orthologs mouse all
ITM2BP1, Official Symbol ITM2BP1provided by HGNC Official Full Name integral membrane protein 2B pseudogene 1provided by HGNC Primary source HGNC:HGNC:20919 See related Ensembl:ENSG00000266853 AllianceGenome:HGNC:20919 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 ITM2BP; HsT33912
ITM2C, Official Symbol ITM2Cprovided by HGNC Official Full Name integral membrane protein 2Cprovided by HGNC Primary source HGNC:HGNC:6175 See related Ensembl:ENSG00000135916 MIM:609554; AllianceGenome:HGNC:6175 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 E25; BRI3; E25C; ITM3; BRICD2C Summary Enables amyloid-beta binding activity. Involved in negative regulation of neuron projection development and neuron differentiation. Located in several cellular components, including Golgi apparatus; lysosome; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in colon (RPKM 478.6), brain (RPKM 266.8) and 17 other tissues See more Orthologs mouse all
ITPA, Official Symbol ITPAprovided by HGNC Official Full Name inosine triphosphataseprovided by HGNC Primary source HGNC:HGNC:6176 See related Ensembl:ENSG00000125877 MIM:147520; AllianceGenome:HGNC:6176 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 DEE35; My049; ITPase; NTPase; C20orf37; dJ794I6.3; HLC14-06-P Summary This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] Expression Ubiquitous expression in thyroid (RPKM 6.0), lymph node (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
ITPK1, Official Symbol ITPK1provided by HGNC Official Full Name inositol-tetrakisphosphate 1-kinaseprovided by HGNC Primary source HGNC:HGNC:6177 See related Ensembl:ENSG00000100605 MIM:601838; AllianceGenome:HGNC:6177 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 ITRPK1 Summary This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in brain (RPKM 29.9), fat (RPKM 26.2) and 25 other tissues See more Orthologs mouse all
ITPK1-AS1, Official Symbol ITPK1-AS1provided by HGNC Official Full Name ITPK1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:20132 See related Ensembl:ENSG00000258730 AllianceGenome:HGNC:20132 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 ITPK1AS; C14orf85; ITPK1-AS; NCRNA00203
ITPKA, Official Symbol ITPKAprovided by HGNC Official Full Name inositol-trisphosphate 3-kinase Aprovided by HGNC Primary source HGNC:HGNC:6178 See related Ensembl:ENSG00000137825 MIM:147521; AllianceGenome:HGNC:6178 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 IP3KA; IP3-3KA Summary Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro.[provided by RefSeq, Apr 2011] Expression Biased expression in brain (RPKM 9.4), duodenum (RPKM 6.8) and 5 other tissues See more Orthologs mouse all
ITPKB, Official Symbol ITPKBprovided by HGNC Official Full Name inositol-trisphosphate 3-kinase Bprovided by HGNC Primary source HGNC:HGNC:6179 See related Ensembl:ENSG00000143772 MIM:147522; AllianceGenome:HGNC:6179 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 IP3K; IP3KB; PIG37; IP3K-B; IP3-3KB Summary The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 10.0), fat (RPKM 9.3) and 24 other tissues See more Orthologs mouse all
ITPKB-AS1, Official Symbol ITPKB-AS1provided by HGNC Official Full Name ITPKB antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40312 See related AllianceGenome:HGNC:40312 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
ITPKB-IT1, Official Symbol ITPKB-IT1provided by HGNC Official Full Name ITPKB intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41349 See related Ensembl:ENSG00000228382 AllianceGenome:HGNC:41349 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
ITPKC, Official Symbol ITPKCprovided by HGNC Official Full Name inositol-trisphosphate 3-kinase Cprovided by HGNC Primary source HGNC:HGNC:14897 See related Ensembl:ENSG00000086544 MIM:606476; AllianceGenome:HGNC:14897 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 IP3KC; IP3-3KC Summary This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009] Expression Ubiquitous expression in esophagus (RPKM 36.2), gall bladder (RPKM 17.5) and 24 other tissues See more Orthologs mouse all
ITPR1, Official Symbol ITPR1provided by HGNC Official Full Name inositol 1,4,5-trisphosphate receptor type 1provided by HGNC Primary source HGNC:HGNC:6180 See related Ensembl:ENSG00000150995 MIM:147265; AllianceGenome:HGNC:6180 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 ACV; CLA4; IP3R; IP3R1; SCA15; SCA16; SCA29; INSP3R1; PPP1R94 Summary This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] Expression Ubiquitous expression in thyroid (RPKM 15.8), brain (RPKM 10.9) and 22 other tissues See more Orthologs mouse all
ITPR1-DT, Official Symbol ITPR1-DTprovided by HGNC Official Full Name ITPR1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:44470 See related Ensembl:ENSG00000231249 AllianceGenome:HGNC:44470 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 ITPR1-AS1 Expression Broad expression in thyroid (RPKM 1.5), prostate (RPKM 1.2) and 22 other tissues See more
ITPR2, Official Symbol ITPR2provided by HGNC Official Full Name inositol 1,4,5-trisphosphate receptor type 2provided by HGNC Primary source HGNC:HGNC:6181 See related Ensembl:ENSG00000123104 MIM:600144; AllianceGenome:HGNC:6181 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 ANHD; IP3R2; CFAP48; INSP3R2 Summary The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015] Expression Ubiquitous expression in liver (RPKM 15.0), kidney (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
ITPR3, Official Symbol ITPR3provided by HGNC Official Full Name inositol 1,4,5-trisphosphate receptor type 3provided by HGNC Primary source HGNC:HGNC:6182 See related Ensembl:ENSG00000096433 MIM:147267; AllianceGenome:HGNC:6182 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 IP3R; CMT1J; IP3R3 Summary This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010] Expression Broad expression in thyroid (RPKM 29.7), skin (RPKM 28.2) and 22 other tissues See more Orthologs mouse all
ITPRID1, Official Symbol ITPRID1provided by HGNC Official Full Name ITPR interacting domain containing 1provided by HGNC Primary source HGNC:HGNC:27363 See related Ensembl:ENSG00000180347 AllianceGenome:HGNC:27363 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 CCDC129 Summary Predicted to enable signaling receptor binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
ITPRID2, Official Symbol ITPRID2provided by HGNC Official Full Name ITPR interacting domain containing 2provided by HGNC Primary source HGNC:HGNC:11319 See related Ensembl:ENSG00000138434 MIM:118990; AllianceGenome:HGNC:11319 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 CS1; CS-1; KRAP; SSFA2; SPAG13 Summary Enables actin filament binding activity. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 31.5), colon (RPKM 22.4) and 25 other tissues See more Orthologs mouse all
ITPRIP, Official Symbol ITPRIPprovided by HGNC Official Full Name inositol 1,4,5-trisphosphate receptor interacting proteinprovided by HGNC Primary source HGNC:HGNC:29370 See related Ensembl:ENSG00000148841 MIM:620205; AllianceGenome:HGNC:29370 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 D1A; DANGER; KIAA1754; bA127L20; bA127L20.2 Summary This gene encodes a membrane-associated protein that binds the inositol 1,4,5-trisphosphate receptor (ITPR). The encoded protein enhances the sensitivity of ITPR to intracellular calcium signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] Expression Broad expression in bone marrow (RPKM 60.0), esophagus (RPKM 14.1) and 17 other tissues See more Orthologs mouse all
ITPRIP-AS1, Official Symbol ITPRIP-AS1provided by HGNC Official Full Name ITPRIP antisense RNA 1provided by HGNC Primary source HGNC:HGNC:54100 See related AllianceGenome:HGNC:54100 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in bone marrow (RPKM 2.1), ovary (RPKM 0.3) and 4 other tissues See more
ITPRIPL1, Official Symbol ITPRIPL1provided by HGNC Official Full Name ITPRIP like 1provided by HGNC Primary source HGNC:HGNC:29371 See related Ensembl:ENSG00000198885 AllianceGenome:HGNC:29371 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 D1B; KIAA1754L Summary Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 4.7), lymph node (RPKM 1.3) and 15 other tissues See more Orthologs mouse all
ITPRIPL2, Official Symbol ITPRIPL2provided by HGNC Official Full Name ITPRIP like 2provided by HGNC Primary source HGNC:HGNC:27257 See related Ensembl:ENSG00000205730 AllianceGenome:HGNC:27257 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 D1C Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 11.3), fat (RPKM 11.0) and 24 other tissues See more Orthologs mouse all
ITSN1, Official Symbol ITSN1provided by HGNC Official Full Name intersectin 1provided by HGNC Primary source HGNC:HGNC:6183 See related Ensembl:ENSG00000205726 MIM:602442; AllianceGenome:HGNC:6183 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 ITSN; SH3D1A; SH3P17 Summary The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 8.8), brain (RPKM 4.1) and 24 other tissues See more Orthologs mouse all
ITSN2, Official Symbol ITSN2provided by HGNC Official Full Name intersectin 2provided by HGNC Primary source HGNC:HGNC:6184 See related Ensembl:ENSG00000198399 MIM:604464; AllianceGenome:HGNC:6184 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 SWA; SWAP; SH3D1B; SH3P18; PRO2015 Summary This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in thyroid (RPKM 16.9), lymph node (RPKM 13.9) and 25 other tissues See more Orthologs mouse all
IVD, Official Symbol IVDprovided by HGNC Official Full Name isovaleryl-CoA dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:6186 See related Ensembl:ENSG00000128928 MIM:607036; AllianceGenome:HGNC:6186 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 IVDH; ACAD2 Summary Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in thyroid (RPKM 25.0), liver (RPKM 18.5) and 24 other tissues See more Orthologs mouse all
IVL, Official Symbol IVLprovided by HGNC Official Full Name involucrinprovided by HGNC Primary source HGNC:HGNC:6187 See related Ensembl:ENSG00000163207 MIM:147360; AllianceGenome:HGNC:6187 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 Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and calcyclin. [provided by RefSeq, Jul 2008] Expression Restricted expression toward esophagus (RPKM 127.7) See more Orthologs mouse all
IVNS1ABP, Official Symbol IVNS1ABPprovided by HGNC Official Full Name influenza virus NS1A binding proteinprovided by HGNC Primary source HGNC:HGNC:16951 See related Ensembl:ENSG00000116679 MIM:609209; AllianceGenome:HGNC:16951 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 ND1; ARA3; NS-1; IMD70; NS1BP; FLARA3; KLHL39; NS1-BP; HSPC068 Summary Involved in RNA splicing; negative regulation of protein ubiquitination; and response to virus. Located in cytosol. Implicated in immunodeficiency 70. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 56.1), kidney (RPKM 31.5) and 24 other tissues See more Orthologs mouse all
IWS1, Official Symbol IWS1provided by HGNC Official Full Name interacts with SUPT6H, CTD assembly factor 1provided by HGNC Primary source HGNC:HGNC:25467 See related Ensembl:ENSG00000163166 AllianceGenome:HGNC:25467 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 regulation of histone modification; regulation of mRNA export from nucleus; and regulation of mRNA processing. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 10.7), lymph node (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
IYD, Official Symbol IYDprovided by HGNC Official Full Name iodotyrosine deiodinaseprovided by HGNC Primary source HGNC:HGNC:21071 See related Ensembl:ENSG00000009765 MIM:612025; AllianceGenome:HGNC:21071 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 TDH4; IYD-1; DEHAL1; C6orf71 Summary This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] Expression Restricted expression toward thyroid (RPKM 256.4) See more Orthologs mouse all
IZUMO1, Official Symbol IZUMO1provided by HGNC Official Full Name izumo sperm-oocyte fusion 1provided by HGNC Primary source HGNC:HGNC:28539 See related Ensembl:ENSG00000182264 MIM:609278; AllianceGenome:HGNC:28539 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 OBF; IZUMO Summary The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).[supplied by OMIM, Mar 2008] Expression Biased expression in testis (RPKM 5.7), placenta (RPKM 0.3) and 3 other tissues See more Orthologs mouse all
IZUMO1R, Official Symbol IZUMO1Rprovided by HGNC Official Full Name IZUMO1 receptor, JUNOprovided by HGNC Primary source HGNC:HGNC:32565 See related Ensembl:ENSG00000183560 MIM:615737; AllianceGenome:HGNC:32565 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 JUNO; FOLR4; Folbp3; FR-delta Summary Enables signaling receptor activity. Predicted to be involved in cell adhesion; fusion of sperm to egg plasma membrane involved in single fertilization; and sperm-egg recognition. Predicted to be located in extracellular region and plasma membrane. Predicted to be anchored component of external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
IZUMO2, Official Symbol IZUMO2provided by HGNC Official Full Name IZUMO family member 2provided by HGNC Primary source HGNC:HGNC:28518 See related Ensembl:ENSG00000161652 MIM:618895; AllianceGenome:HGNC:28518 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 SCRL; C19orf41; PLAL6978; PRO21961 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 7.2) See more Orthologs mouse all
IZUMO3, Official Symbol IZUMO3provided by HGNC Official Full Name IZUMO family member 3provided by HGNC Primary source HGNC:HGNC:31421 See related Ensembl:ENSG00000205442 MIM:618896; AllianceGenome:HGNC:31421 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 C9orf134; bA20A20.1 Summary Predicted to enable protein homodimerization activity. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 4.9) See more Orthologs mouse all
IZUMO4, Official Symbol IZUMO4provided by HGNC Official Full Name IZUMO family member 4provided by HGNC Primary source HGNC:HGNC:26950 See related Ensembl:ENSG00000099840 MIM:618897; AllianceGenome:HGNC:26950 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 C19orf36; IMAGE:4215339 Summary Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 134.0) See more Orthologs mouse all
JADE1, Official Symbol JADE1provided by HGNC Official Full Name jade family PHD finger 1provided by HGNC Primary source HGNC:HGNC:30027 See related Ensembl:ENSG00000077684 MIM:610514; AllianceGenome:HGNC:30027 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 PHF17 Summary Enables transcription coactivator activity. Involved in histone acetylation and negative regulation of canonical Wnt signaling pathway. Acts upstream of or within negative regulation of G1/S transition of mitotic cell cycle. Located in several cellular components, including ciliary basal body; cytosol; and nuclear speck. Part of histone acetyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 13.1), ovary (RPKM 12.4) and 25 other tissues See more Orthologs mouse all
JADE2, Official Symbol JADE2provided by HGNC Official Full Name jade family PHD finger 2provided by HGNC Primary source HGNC:HGNC:22984 See related Ensembl:ENSG00000043143 MIM:610515; AllianceGenome:HGNC:22984 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 PHF15; JADE-2 Summary Predicted to enable ubiquitin protein ligase activity. Involved in histone acetylation. Located in nucleoplasm. Part of histone acetyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 11.1), ovary (RPKM 11.0) and 24 other tissues See more Orthologs mouse all
JADE3, Official Symbol JADE3provided by HGNC Official Full Name jade family PHD finger 3provided by HGNC Primary source HGNC:HGNC:22982 See related Ensembl:ENSG00000102221 MIM:300618; AllianceGenome:HGNC:22982 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 PHF16; JADE-3 Summary This gene encodes a member of a family of large proteins containing PHD (plant homeo domain)-type zinc fingers. The encoded protein may be associated in a nuclear complex that functions in histone H4 acetylation. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013] Expression Broad expression in testis (RPKM 8.9), placenta (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
JAG1, Official Symbol JAG1provided by HGNC Official Full Name jagged canonical Notch ligand 1provided by HGNC Primary source HGNC:HGNC:6188 See related Ensembl:ENSG00000101384 MIM:601920; AllianceGenome:HGNC:6188 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 AGS; AHD; AWS; HJ1; AGS1; DCHE; CD339; JAGL1; CMT2HH Summary The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019] Expression Ubiquitous expression in placenta (RPKM 27.7), skin (RPKM 22.8) and 24 other tissues See more Orthologs mouse all
JAG2, Official Symbol JAG2provided by HGNC Official Full Name jagged canonical Notch ligand 2provided by HGNC Primary source HGNC:HGNC:6189 See related Ensembl:ENSG00000184916 MIM:602570; AllianceGenome:HGNC:6189 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 HJ2; SER2; LGMDR27 Summary The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in skin (RPKM 13.9), fat (RPKM 7.0) and 19 other tissues See more Orthologs mouse all
JAGN1, Official Symbol JAGN1provided by HGNC Official Full Name jagunal homolog 1provided by HGNC Primary source HGNC:HGNC:26926 See related Ensembl:ENSG00000171135 MIM:616012; AllianceGenome:HGNC:26926 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 SCN6; GL009 Summary The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia. [provided by RefSeq, Oct 2014] Expression Ubiquitous expression in adrenal (RPKM 15.3), liver (RPKM 12.7) and 25 other tissues See more Orthologs mouse all
JAK1, Official Symbol JAK1provided by HGNC Official Full Name Janus kinase 1provided by HGNC Primary source HGNC:HGNC:6190 See related Ensembl:ENSG00000162434 MIM:147795; AllianceGenome:HGNC:6190 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 JTK3; AIIDE; JAK1A; JAK1B Summary This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta, interferon-gamma, and cytokine signal transduction. This gene plays a crucial role in effecting the expression of genes that mediate inflammation, epithelial remodeling, and metastatic cancer progression. This gene is a key component of the interleukin-6 (IL-6)/JAK1/STAT3 immune and inflammation response and is a therapeutic target for alleviating cytokine storms. The kinase activity of this gene is directly inhibited by the suppressor of cytokine signalling 1 (SOCS1) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 treatment. Expression Ubiquitous expression in lymph node (RPKM 51.3), fat (RPKM 49.8) and 25 other tissues See more Orthologs mouse all
JAK2, Official Symbol JAK2provided by HGNC Official Full Name Janus kinase 2provided by HGNC Primary source HGNC:HGNC:6192 See related Ensembl:ENSG00000096968 MIM:147796; AllianceGenome:HGNC:6192 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 JTK10 Summary This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required for erythropoietin receptor association, an SH2 domain that binds STAT transcription factors, a pseudokinase domain and a C-terminal tyrosine kinase domain. Cytokine binding induces autophosphorylation and activation of this kinase. This kinase then recruits and phosphorylates signal transducer and activator of transcription (STAT) proteins. Growth factors like TGF-beta 1 also induce phosphorylation and activation of this kinase and translocation of downstream STAT proteins to the nucleus where they influence gene transcription. Mutations in this gene are associated with numerous inflammatory diseases and malignancies. This gene is a downstream target of the pleiotropic cytokine IL6 that is produced by B cells, T cells, dendritic cells and macrophages to produce an immune response or inflammation. Disregulation of the IL6/JAK2/STAT3 signalling pathways produces increased cellular proliferation and myeloproliferative neoplasms of hematopoietic stem cells. A nonsynonymous mutation in the pseudokinase domain of this gene disrupts the domains inhibitory effect and results in constitutive tyrosine phosphorylation activity and hypersensitivity to cytokine signalling. This gene and the IL6/JAK2/STAT3 signalling pathway is a therapeutic target for the treatment of excessive inflammatory responses to viral infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response. Expression Ubiquitous expression in appendix (RPKM 11.3), heart (RPKM 11.1) and 24 other tissues See more Orthologs mouse all
JAK3, Official Symbol JAK3provided by HGNC Official Full Name Janus kinase 3provided by HGNC Primary source HGNC:HGNC:6193 See related Ensembl:ENSG00000105639 MIM:600173; AllianceGenome:HGNC:6193 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 JAKL; LJAK; JAK-3; L-JAK; JAK3_HUMAN Summary The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008] Expression Biased expression in appendix (RPKM 19.5), lymph node (RPKM 18.2) and 12 other tissues See more Orthologs mouse all
JAKMIP1, Official Symbol JAKMIP1provided by HGNC Official Full Name janus kinase and microtubule interacting protein 1provided by HGNC Primary source HGNC:HGNC:26460 See related Ensembl:ENSG00000152969 MIM:611195; AllianceGenome:HGNC:26460 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 JAMIP1; MARLIN1; Gababrbp Summary Enables GABA receptor binding activity and RNA binding activity. Involved in cognition. Is extrinsic component of membrane. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 7.6), testis (RPKM 1.5) and 4 other tissues See more Orthologs mouse all
JAKMIP2, Official Symbol JAKMIP2provided by HGNC Official Full Name janus kinase and microtubule interacting protein 2provided by HGNC Primary source HGNC:HGNC:29067 See related Ensembl:ENSG00000176049 MIM:611197; AllianceGenome:HGNC:29067 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 NECC1; JAMIP2 Summary The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Expression Biased expression in brain (RPKM 6.2), adrenal (RPKM 0.9) and 5 other tissues See more Orthologs mouse all