| EDNRB |
| LOCUS ID | 1910 | ||||||||||
| GENE_SYMBOL | EDNRB | ||||||||||
| GENE NAME | endothelin receptor | ||||||||||
| SYNONYMNS | ETB, ET-B, ETB1, ETBR, ETRB, HSCR, WS4A, ABCDS, ET-BR, HSCR2 | ||||||||||
| CHROMOSOME | 13 | ||||||||||
| HOMOLOGENE ID | 89 |
| microRNAs | NA | NA |
| GENE SUMMARY |
|---|
| 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. |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Retinopathy | 1. The joint effect of the endothelin receptor B gene (EDNRB) polymorphism rs10507875 and nitric oxide synthase 3 gene (NOS3) polymorphism rs869109213 in Slovenian patients with type 2 diabetes mellitus and diabetic retinopathy. In conclusion, our results indicate that NOS3 rs869109213 polymorphism alone or in a combination with EDNRB rs10507875 polymorphism may be associated with DR in Slovenian patients with T2DM | 28817788 |