rs1878741475
This variant is located in the EDNRB gene.
▶ClinVar annotation
About EDNRB
The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
View all EDNRB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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