EDNRA Chromosome 4
Endothelin receptor type A
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What This Gene Does
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]
Gene Info
Gene Group
Endothelin receptors
Locus Type
gene with protein product
Location
4q31.22-q31.23
Ensembl
ENSG00000151617
Associated Conditions (3)
Mandibulofacial dysostosis with alopecia
Migraine
resistance to
Key Variants
RS786205230
Pathogenic
Mandibulofacial dysostosis with alopecia, Mandibulofacial dysostosis with alopecia
Health Risk
RS876657388
Pathogenic
Mandibulofacial dysostosis with alopecia, Mandibulofacial dysostosis with alopecia
Health Risk
RS1801708
protective
Migraine, resistance to, Migraine
Protective
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS786205230 | Health Risk | Pathogenic | Mandibulofacial dysostosis with alopecia, Mandibulofacial dysostosis with alopecia |
| RS876657388 | Health Risk | Pathogenic | Mandibulofacial dysostosis with alopecia, Mandibulofacial dysostosis with alopecia |
| RS1801708 | Protective | protective | Migraine, resistance to, Migraine |