EDNRB
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. [provided by RefSeq, Oct 2016].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:131244 Ensembl IDEnsembl:ENSG00000136160 HGNC IDHGNC:HGNC:3180 PHARMGKB IDPA27618 Map Location13q22.3 |
GO terms in EDNRB
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Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IDA | GO:0004962 | endothelin receptor activity |
MF | IMP | GO:0004962 | endothelin receptor activity |
MF | IPI | GO:0005515 | protein binding |
MF | IPI | GO:0017046 | peptide hormone binding |
MF | IEA | GO:0031702 | type 1 angiotensin receptor binding |
CC | IDA | GO:0005886 | plasma membrane |
Gene expression in normal tissue: EDNRB
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in EDNRB
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Database | Pathway ID | Pathway Des. |
---|---|---|
wikipathways | WP2197 | Endothelin Pathways |
wikipathways | WP24 | Peptide GPCRs |
wikipathways | WP455 | GPCRs, Class A Rhodopsin-like |
wikipathways | WP98 | Prostaglandin Synthesis and Regulation |
kegg | hsa04020 | Calcium signaling pathway - Homo sapiens (human) |
kegg | hsa04022 | cGMP-PKG signaling pathway - Homo sapiens (human) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in EDNRB
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |