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OSMR

Chr 5p13.1

oncostatin M receptor

Aliases:
OSMRB, OSMRbeta
MANE:
ENST00000274276.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Periodic fever syndromes

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Pigmentary skin disorders

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Rare genetic inflammatory skin disorders

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • amyloidosis, primary localized cutaneous, 1

    0.75
  • familial primary localized cutaneous amyloidosis

    0.60
  • ulcerative colitis

    0.40
  • inflammatory bowel disease

    0.39
  • Crohn disease

    0.38
  • venous thromboembolism

    0.32
  • viral infectious disease

    0.31
  • psoriasis

    0.31
  • sclerosing cholangitis

    0.30
  • ankylosing spondylitis

    0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Oncostatin-M-specific receptor subunit beta

Functions as a shared membrane-bound signal-transducing subunit in two distinct receptor complexes, the type II OSM receptor (heterodimer composed of OSMR and IL6ST) and the IL31 receptor complex (heterodimer composed of OSMR and IL31RA) which respectively bind OSM and IL31 (PubMed:15184896, PubMed:15627637, PubMed:8999038). Functionally, OSM signaling via OSMR/IL6ST regulates many processes including cell proliferation, cell differentiation, cytokine production, whereas the IL31 signaling via OSMR/IL31RA is particularly important in skin immunity (PubMed:15184896, PubMed:8999038). Mechanistically, in both the OSM-IL6ST/gp130-OSMR and IL31-IL31RA-OSMR complexes, receptor dimerization activates JAK1 and JAK2 (and to a lesser extent TYK2) associated with the intracellular domains of IL6ST/gp130 and OSMR (or IL31RA and OSMR) (PubMed:15627637, PubMed:8999038, PubMed:9188471). These kinases phosphorylate tyrosine residues on IL6ST/gp130 and OSMR (or IL31RA and OSMR), creating docking sites for STAT1, STAT3, and STAT5B, which are then phosphorylated and activated (PubMed:15627637, PubMed:9188471). In addition, the IL31 receptor complex activates the MAPK pathway (MAPK3/ERK1-MAPK1/ERK2) via recruitment of the adapter protein SHC1 (PubMed:15627637)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.