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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.
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.
The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).
In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl
The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).
The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
JAK2-201
JAK2-202
JAK2-204
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) 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:0000165 [MAPK cascade] GO:0000166 [nucleotide binding] GO:0000186 [activation of MAPKK activity] 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: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:0006468 [protein phosphorylation] GO:0006915 [apoptotic process] GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] 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:0007596 [blood coagulation] 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: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:0016020 [membrane] GO:0016301 [kinase activity] GO:0016310 [phosphorylation] 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:0030154 [cell differentiation] GO:0030218 [erythrocyte differentiation] GO:0030335 [positive regulation of cell migration] 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:0032731 [positive regulation of interleukin-1 beta production] GO:0032760 [positive regulation of tumor necrosis factor production] GO:0033130 [acetylcholine receptor binding] GO:0033194 [response to hydroperoxide] GO:0033209 [tumor necrosis factor-mediated signaling pathway] GO:0034612 [response to tumor necrosis factor] GO:0035401 [histone kinase activity (H3-Y41 specific)] GO:0035409 [histone H3-Y41 phosphorylation] GO:0035556 [intracellular signal transduction] GO:0035722 [interleukin-12-mediated signaling pathway] GO:0038155 [interleukin-23-mediated signaling pathway] 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:0043388 [positive regulation of DNA binding] GO:0043392 [negative regulation of DNA binding] GO:0043524 [negative regulation of neuron apoptotic process] GO:0043548 [phosphatidylinositol 3-kinase binding] GO:0043560 [insulin receptor substrate binding] 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:0046425 [regulation of receptor signaling pathway via JAK-STAT] GO:0046579 [positive regulation of Ras protein signal transduction] 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:0051428 [peptide hormone receptor binding] GO:0051770 [positive regulation of nitric-oxide synthase biosynthetic process] GO:0060333 [interferon-gamma-mediated signaling pathway] GO:0060334 [regulation of interferon-gamma-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:0070106 [interleukin-27-mediated signaling pathway] GO:0070671 [response to interleukin-12] GO:0070757 [interleukin-35-mediated signaling pathway] GO:0097191 [extrinsic apoptotic signaling pathway] GO:0097296 [activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway] GO:0098794 [postsynapse] GO:0098978 [glutamatergic synapse] GO:0099527 [postsynapse to nucleus signaling pathway] GO:0120162 [positive regulation of cold-induced thermogenesis] 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:2000273 [positive regulation of signaling receptor activity]
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)