EDNRA

Chr 4AD

endothelin receptor type A

Also known as: ET-A, ETA, ETA-R, ETAR, ETRA, MFDA, hET-AR

NCBI Gene: 1909ENSG00000151617UniProt: P25101OMIM: 131243

This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Migraine, resistance to}MIM #157300
AD
Mandibulofacial dysostosis with alopeciaMIM #616367
AD

Clinical highlights

Interpreting a novel variant
Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
44
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.25
LOEUF· LoF intol.
GOF*
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.25LOEUF
pLI 0.992
Z-score 3.79
OE 0.05 (0.02–0.25)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.80Z-score
OE missense 0.49 (0.42–0.57)
120 obs / 242.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.05 (0.02–0.25)
0≤0.351.4
Missense OE?0.49 (0.42–0.57)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 1 / 18.7Missense obs/exp: 120 / 242.9Syn Z: 0.62

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EDNRA · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients