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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Enzymes FDA approved drug targets Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
9
Cytoband
p24.1
Chromosome location (bp)
4984390 - 5129948
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors such as growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin (THPO); or type II receptors including IFN-alpha, IFN-beta, IFN-gamma and multiple interleukins 1,2,3. Following ligand-binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins 4,5. Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, cell stimulation with erythropoietin (EPO) during erythropoiesis leads to JAK2 autophosphorylation, activation, and its association with erythropoietin receptor (EPOR) that becomes phosphorylated in its cytoplasmic domain 6. Then, STAT5 (STAT5A or STAT5B) is recruited, phosphorylated and activated by JAK2. Once activated, dimerized STAT5 translocates into the nucleus and promotes the transcription of several essential genes involved in the modulation of erythropoiesis. Part of a signaling cascade that is activated by increased cellular retinol and that leads to the activation of STAT5 (STAT5A or STAT5B) 7. In addition, JAK2 mediates angiotensin-2-induced ARHGEF1 phosphorylation 8. Plays a role in cell cycle by phosphorylating CDKN1B 9. Cooperates with TEC through reciprocal phosphorylation to mediate cytokine-driven activation of FOS transcription. In the nucleus, plays a key role in chromatin by specifically mediating phosphorylation of 'Tyr-41' of histone H3 (H3Y41ph), a specific tag that promotes exclusion of CBX5 (HP1 alpha) from chromatin 10....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Vascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0000791[euchromatin] GO:0001774[microglial cell activation] GO:0002250[adaptive immune response] GO:0002376[immune system process] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004715[non-membrane spanning protein tyrosine kinase activity] GO:0005102[signaling receptor binding] GO:0005126[cytokine receptor binding] GO:0005131[growth hormone receptor binding] GO:0005143[interleukin-12 receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005901[caveola] GO:0005925[focal adhesion] GO:0006325[chromatin organization] GO:0006366[transcription by RNA polymerase II] GO:0006468[protein phosphorylation] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0006955[immune response] GO:0006979[response to oxidative stress] GO:0007165[signal transduction] GO:0007167[enzyme-linked receptor protein signaling pathway] GO:0007186[G protein-coupled receptor signaling pathway] GO:0007204[positive regulation of cytosolic calcium ion concentration] GO:0007259[receptor signaling pathway via JAK-STAT] GO:0007260[tyrosine phosphorylation of STAT protein] GO:0007498[mesoderm development] GO:0008022[protein C-terminus binding] GO:0008284[positive regulation of cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0008631[intrinsic apoptotic signaling pathway in response to oxidative stress] GO:0009755[hormone-mediated signaling pathway] GO:0010572[positive regulation of platelet activation] GO:0010667[negative regulation of cardiac muscle cell apoptotic process] GO:0010811[positive regulation of cell-substrate adhesion] GO:0012505[endomembrane system] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0014070[response to organic cyclic compound] GO:0014075[response to amine] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016570[histone modification] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0019221[cytokine-mediated signaling pathway] GO:0019901[protein kinase binding] GO:0020037[heme binding] GO:0022408[negative regulation of cell-cell adhesion] GO:0030041[actin filament polymerization] GO:0030099[myeloid cell differentiation] GO:0030154[cell differentiation] GO:0030155[regulation of cell adhesion] GO:0030218[erythrocyte differentiation] GO:0030335[positive regulation of cell migration] GO:0030526[granulocyte macrophage colony-stimulating factor receptor complex] GO:0031103[axon regeneration] GO:0031702[type 1 angiotensin receptor binding] GO:0031904[endosome lumen] GO:0031959[mineralocorticoid receptor signaling pathway] GO:0032024[positive regulation of insulin secretion] GO:0032496[response to lipopolysaccharide] GO:0032516[positive regulation of phosphoprotein phosphatase activity] GO:0032729[positive regulation of interferon-gamma production] GO:0032731[positive regulation of interleukin-1 beta production] GO:0032740[positive regulation of interleukin-17 production] GO:0032760[positive regulation of tumor necrosis factor production] GO:0032819[positive regulation of natural killer cell proliferation] GO:0033130[acetylcholine receptor binding] GO:0033194[response to hydroperoxide] GO:0033209[tumor necrosis factor-mediated signaling pathway] GO:0034050[programmed cell death induced by symbiont] GO:0034612[response to tumor necrosis factor] GO:0035166[post-embryonic hemopoiesis] GO:0035401[histone kinase activity (H3-Y41 specific)] GO:0035556[intracellular signal transduction] GO:0035722[interleukin-12-mediated signaling pathway] GO:0036016[cellular response to interleukin-3] GO:0038065[collagen-activated signaling pathway] GO:0038157[granulocyte-macrophage colony-stimulating factor signaling pathway] GO:0042022[interleukin-12 receptor complex] GO:0042102[positive regulation of T cell proliferation] GO:0042169[SH2 domain binding] GO:0042307[positive regulation of protein import into nucleus] GO:0042393[histone binding] GO:0042531[positive regulation of tyrosine phosphorylation of STAT protein] GO:0042802[identical protein binding] GO:0042976[activation of Janus kinase activity] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0043388[positive regulation of DNA binding] GO:0043392[negative regulation of DNA binding] GO:0043410[positive regulation of MAPK cascade] GO:0043524[negative regulation of neuron apoptotic process] GO:0043548[phosphatidylinositol 3-kinase binding] GO:0043560[insulin receptor substrate binding] GO:0043687[post-translational protein modification] GO:0045087[innate immune response] GO:0045121[membrane raft] GO:0045348[positive regulation of MHC class II biosynthetic process] GO:0045428[regulation of nitric oxide biosynthetic process] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0045597[positive regulation of cell differentiation] GO:0045822[negative regulation of heart contraction] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046425[regulation of receptor signaling pathway via JAK-STAT] GO:0046427[positive regulation of receptor signaling pathway via JAK-STAT] GO:0046677[response to antibiotic] GO:0046777[protein autophosphorylation] GO:0046872[metal ion binding] GO:0048008[platelet-derived growth factor receptor signaling pathway] GO:0050727[regulation of inflammatory response] GO:0050729[positive regulation of inflammatory response] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0050804[modulation of chemical synaptic transmission] GO:0050867[positive regulation of cell activation] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051142[positive regulation of NK T cell proliferation] GO:0051239[regulation of multicellular organismal process] GO:0051428[peptide hormone receptor binding] GO:0051770[positive regulation of nitric-oxide synthase biosynthetic process] GO:0060333[type II interferon-mediated signaling pathway] GO:0060391[positive regulation of SMAD protein signal transduction] GO:0060396[growth hormone receptor signaling pathway] GO:0060397[growth hormone receptor signaling pathway via JAK-STAT] GO:0060399[positive regulation of growth hormone receptor signaling pathway] GO:0060548[negative regulation of cell death] GO:0061180[mammary gland epithelium development] GO:0070102[interleukin-6-mediated signaling pathway] GO:0070665[positive regulation of leukocyte proliferation] GO:0070671[response to interleukin-12] GO:0070757[interleukin-35-mediated signaling pathway] GO:0071222[cellular response to lipopolysaccharide] GO:0071549[cellular response to dexamethasone stimulus] GO:0072536[interleukin-23 receptor complex] GO:0097191[extrinsic apoptotic signaling pathway] GO:0097296[activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway] GO:0098586[cellular response to virus] GO:0098794[postsynapse] GO:0098978[glutamatergic synapse] GO:0120162[positive regulation of cold-induced thermogenesis] GO:1901731[positive regulation of platelet aggregation] GO:1902728[positive regulation of growth factor dependent skeletal muscle satellite cell proliferation] GO:1904037[positive regulation of epithelial cell apoptotic process] GO:1904707[positive regulation of vascular associated smooth muscle cell proliferation] GO:1905539[regulation of postsynapse to nucleus signaling pathway] GO:2000273[positive regulation of signaling receptor activity] GO:2000318[positive regulation of T-helper 17 type immune response] GO:2001235[positive regulation of apoptotic signaling pathway]
DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Vascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Vascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
