Human Gene IL23R (ENST00000425614.3) Description and Page Index
Description: Associates with IL12RB1 to form the interleukin-23 receptor. Binds IL23 and mediates T-cells, NK cells and possibly certain macrophage/myeloid cells stimulation probably through activation of the Jak-Stat signaling cascade. IL23 functions in innate and adaptive immunity and may participate in acute response to infection in peripheral tissues. IL23 may be responsible for autoimmune inflammatory diseases and be important for tumorigenesis. (from UniProt Q5VWK5) Gencode Transcript: ENST00000425614.3 Gencode Gene: ENSG00000162594.16 Transcript (Including UTRs) Position: hg38 chr1:67,207,616-67,259,248 Size: 51,633 Total Exon Count: 6 Strand: + Coding Region Position: hg38 chr1:67,207,666-67,259,128 Size: 51,463 Coding Exon Count: 6
ID:IL23R_HUMAN DESCRIPTION: RecName: Full=Interleukin-23 receptor; Short=IL-23 receptor; Short=IL-23R; Flags: Precursor; FUNCTION: Associates with IL12RB1 to form the interleukin-23 receptor. Binds IL23 and mediates T-cells, NK cells and possibly certain macrophage/myeloid cells stimulation probably through activation of the Jak-Stat signaling cascade. IL23 functions in innate and adaptive immunity and may participate in acute response to infection in peripheral tissues. IL23 may be responsible for autoimmune inflammatory diseases and be important for tumorigenesis. SUBUNIT: Heterodimer with IL12RB1. In presence of IL23, the heterodimer forms the IL23 receptor. Interacts with JAK2 and in presence of IL23 with STAT3. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. TISSUE SPECIFICITY: Expressed by monocytes, Th1, Th0, NK and dendritic cells. Isoform 1 is specifically expressed in NK cells. PTM: Phosphorylated in response to IL23. DISEASE: Genetic variations in IL23R are associated with inflammatory bowel disease type 17 (IBD17) [MIM:612261]. IBD17 is a chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. DISEASE: Genetic variations in IL23R are a cause of susceptibility to psoriasis type 7 (PSORS7) [MIM:605606]. Psoriasis is a common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. SIMILARITY: Belongs to the type I cytokine receptor family. Type 2 subfamily. SIMILARITY: Contains 2 fibronectin type-III domains. SEQUENCE CAUTION: Sequence=AAH16829.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAH70408.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAI22679.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
ModBase Predicted Comparative 3D Structure on Q5VWK5
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Other Names for This Gene
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Methods, Credits, and Use Restrictions
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