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EDNRA

Chr 4q31.22-q31.23

endothelin receptor type A

Aliases:
ET-A, ETA-R, hET-AR
MANE:
ENST00000651419.1
OMIM: 131243 ↗NCBI: 1909 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Clefting

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Deafness and congenital structural abnormalities

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • mandibulofacial dysostosis with alopecia

    0.72

  • hypertensive disorder

    0.68

  • pulmonary arterial hypertension

    0.62

  • pulmonary hypertension

    0.59

  • systemic sclerosis

    0.58

  • cardiovascular disorder

    0.58

  • IgA glomerulonephritis

    0.55

  • coronary artery disorder

    0.53

  • prostate cancer

    0.52

  • heart disorder

    0.51

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

Protein function (UniProt)

Endothelin-1 receptor

Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3

Diseases associated with EDNRA

Curated MONDO disease pages that list EDNRA among their top associated genes.

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.