EDN3 (Gene)

Synonyms:EDN3, ENTREZ:1908, ET-3, ET3, HGNC:3178, HSCR4, MIM:131242, NM_000114, NM_001302455, NM_001302456, NM_207032, NM_207033, NM_207034, NP_001289384, NP_001289385, NP_996915, NP_996916, NP_996917, PPET3, WS4B, XM_005260312, XM_005260313, XM_006723734, XM_011528655, XM_024451847, XM_024451848, XP_005260369, XP_005260370, XP_006723797, XP_011526957, XP_024307615, XP_024307616, XR_002958461, XR_002958462, XR_936513, endothelin 3
Omim:OMIM:131242
Id:ENSG00000124205
Hgnc:HGNC:3178
Entrez:1908
Description:endothelin 3
The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View EDN3's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with EDN3.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using EDN3.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for EDN3.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with EDN3.

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