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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 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
12
Cytoband
q15
Chromosome location (bp)
68154768 - 68159740
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Type II interferon produced by immune cells such as T-cells and NK cells that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation 1,2. Primarily signals through the JAK-STAT pathway after interaction with its receptor IFNGR1 to affect gene regulation 3. Upon IFNG binding, IFNGR1 intracellular domain opens out to allow association of downstream signaling components JAK2, JAK1 and STAT1, leading to STAT1 activation, nuclear translocation and transcription of IFNG-regulated genes. Many of the induced genes are transcription factors such as IRF1 that are able to further drive regulation of a next wave of transcription 4. Plays a role in class I antigen presentation pathway by inducing a replacement of catalytic proteasome subunits with immunoproteasome subunits 5. In turn, increases the quantity, quality, and repertoire of peptides for class I MHC loading 6. Increases the efficiency of peptide generation also by inducing the expression of activator PA28 that associates with the proteasome and alters its proteolytic cleavage preference 7. Up-regulates as well MHC II complexes on the cell surface by promoting expression of several key molecules such as cathepsins B/CTSB, H/CTSH, and L/CTSL 8. Participates in the regulation of hematopoietic stem cells during development and under homeostatic conditions by affecting their development, quiescence, and differentiation (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Cytokine
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Antiviral defense, Growth regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...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.
MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes FDA approved drug targets Biotech drugs Small molecule drugs Human disease related genes Cardiovascular diseases Hematologic diseases Immune system diseases Allergies and autoimmune diseases Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001774[microglial cell activation] GO:0001819[positive regulation of cytokine production] GO:0002250[adaptive immune response] GO:0002281[macrophage activation involved in immune response] GO:0005125[cytokine activity] GO:0005133[interferon-gamma receptor binding] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0006915[apoptotic process] GO:0006955[immune response] GO:0006959[humoral immune response] GO:0007165[signal transduction] GO:0007166[cell surface receptor signaling pathway] GO:0007259[receptor signaling pathway via JAK-STAT] GO:0008284[positive regulation of cell population proliferation] GO:0009615[response to virus] GO:0010508[positive regulation of autophagy] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010634[positive regulation of epithelial cell migration] GO:0030225[macrophage differentiation] GO:0030857[negative regulation of epithelial cell differentiation] GO:0031334[positive regulation of protein-containing complex assembly] GO:0032700[negative regulation of interleukin-17 production] GO:0032722[positive regulation of chemokine production] GO:0032731[positive regulation of interleukin-1 beta production] GO:0032735[positive regulation of interleukin-12 production] GO:0032747[positive regulation of interleukin-23 production] GO:0032755[positive regulation of interleukin-6 production] GO:0032760[positive regulation of tumor necrosis factor production] GO:0032834[positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response] GO:0033141[positive regulation of peptidyl-serine phosphorylation of STAT protein] GO:0034393[positive regulation of smooth muscle cell apoptotic process] GO:0042307[positive regulation of protein import into nucleus] GO:0042531[positive regulation of tyrosine phosphorylation of STAT protein] GO:0045348[positive regulation of MHC class II biosynthetic process] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0045672[positive regulation of osteoclast differentiation] GO:0045821[positive regulation of glycolytic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0048143[astrocyte activation] GO:0048662[negative regulation of smooth muscle cell proliferation] GO:0050729[positive regulation of inflammatory response] GO:0050766[positive regulation of phagocytosis] GO:0050769[positive regulation of neurogenesis] GO:0050796[regulation of insulin secretion] GO:0051044[positive regulation of membrane protein ectodomain proteolysis] GO:0051173[positive regulation of nitrogen compound metabolic process] GO:0051607[defense response to virus] GO:0051712[positive regulation of killing of cells of another organism] GO:0051770[positive regulation of nitric-oxide synthase biosynthetic process] GO:0060333[type II interferon-mediated signaling pathway] GO:0060550[positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity] GO:0060552[positive regulation of fructose 1,6-bisphosphate metabolic process] GO:0060557[positive regulation of vitamin D biosynthetic process] GO:0060559[positive regulation of calcidiol 1-monooxygenase activity] GO:0071902[positive regulation of protein serine/threonine kinase activity] GO:0090312[positive regulation of protein deacetylation] GO:0097191[extrinsic apoptotic signaling pathway] GO:0098586[cellular response to virus] GO:0150076[neuroinflammatory response] GO:1900222[negative regulation of amyloid-beta clearance] GO:1901216[positive regulation of neuron death] GO:1901857[positive regulation of cellular respiration] GO:1902004[positive regulation of amyloid-beta formation] GO:1902948[negative regulation of tau-protein kinase activity] GO:1903078[positive regulation of protein localization to plasma membrane] GO:1903543[positive regulation of exosomal secretion] GO:1904440[positive regulation of iron ion import across plasma membrane] GO:1904783[positive regulation of NMDA glutamate receptor activity] GO:1904798[positive regulation of core promoter binding] GO:2000273[positive regulation of signaling receptor activity] GO:2000309[positive regulation of tumor necrosis factor (ligand) superfamily member 11 production]