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IL11RA

Chr 9p13.3

interleukin 11 receptor subunit alpha

MANE:
ENST00000441545.7

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Rare syndromic craniosynostosis or isolated multisuture synostosis

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • craniosynostosis and dental anomalies

    0.77
  • Thrombocytopenia

    0.49
  • craniosynostosis

    0.46
  • craniosynostosis syndrome, autosomal recessive

    0.46
  • neoplasm

    0.40
  • autoimmune disorder of central nervous system

    0.23
  • acute leukemia

    0.18
  • protozoa infectious disease

    0.18
  • von Willebrand disease (hereditary or acquired)

    0.10
  • glioblastoma

    0.09

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

Protein function (UniProt)

Interleukin-11 receptor subunit alpha

Receptor for interleukin-11 (IL11). The receptor systems for IL6, LIF, OSM, CNTF, IL11 and CT1 can utilize IL6ST for initiating signal transmission. The IL11/IL11RA/IL6ST complex may be involved in the control of proliferation and/or differentiation of skeletogenic progenitor or other mesenchymal cells (Probable). Essential for the normal development of craniofacial bones and teeth. Restricts suture fusion and tooth number

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.