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IL27RA

Chr 19p13.12

interleukin 27 receptor subunit alpha

Aliases:
WSX-1, TCCR, CRL1, WSX1, zcytor1
MANE:
ENST00000263379.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Epstein-Barr virus infection

    0.19
  • neoplasm

    0.11
  • infection

    0.11
  • hepatocellular carcinoma

    0.10
  • atherosclerosis

    0.08
  • breast carcinoma

    0.08
  • breast cancer

    0.08
  • triple-A syndrome

    0.08
  • Miyoshi myopathy

    0.08
  • benign prostatic hyperplasia

    0.07

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

Protein function (UniProt)

Interleukin-27 receptor subunit alpha

Signal-transducing subunit for an heterodimeric cytokine composed of IL27/p28 and a soluble receptor EBI3 (PubMed:14764690, PubMed:36930708). Heterodimerizes with IL6ST/GP130 to mediate signal transduction in response to the heterodimeric cytokine IL27/p28-EBI3. This signaling system acts through STAT3 and STAT1 (PubMed:14764690, PubMed:38509369). Also acts as a signaling receptor as part of the humanin receptor complex; binding of MT-RNR2/humanin (HN) activates the intracellular JAK-STAT3 signaling pathway leading to neuroprotection (PubMed:19386761). Involved in the regulation of Th1-type immune responses (By similarity). Also appears to be involved in innate defense mechanisms (PubMed:14764690)

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.