EDK
Editome Disease Knowledgebase
EDNRB
| Gene symbol | EDNRB |
|---|---|
| Aliases | ETB |
| Protein Name | Endothelin B receptor |
| Function | EDNRB is a non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. |
| Species | Human |
| Editing Sites | 1 |
| Disease | Hirschsprung Disease; |
| Description | When ETB proteins are functionally altered by mutation, it may lead to HSCR. The sequence of the mutant cDNA shows a nucleotide substitution from A to G at position 950, resulting in the conversion from glutamine to arginine. |
| RADR | RADAR |
| REDIportal | REDI portal |
| External links | P24530(Uniport); NM_000115 (NM id); 1910 (NCBI gene id); GeneCard; GTEx |
| Sequence |
Editing sites
| Enzyme | Editing type | Region | NT Seq Position | Codon Change | Amino Acid Change | Molecular Consequence | Editing Level | Tissue | Editing Effect | Phenotype | Disease name | PMID |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
A-to-I | Exonic | 950 | CAG->CGG | Q->R | Nonsynonymous substitution | Present | Lymphoblastoid | ETB proteins are functionally altered by a mutation that may lead to HSCR. | Induce disease |