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EDNRB

Basics

Aliases:
This biomarker is also known as:
  • ETRB,
  • ET-B,
  • ETB,
  • Endothelin Receptor Non-Selective Type,
  • Endothelin B Receptor,
  • Endothelin Receptor Type B,
  • HSCR,
  • ET-BR,
  • ABCDS,
  • ETBR,
  • HSCR2,
  • WS4A,

Description…

From Entrez Gene: 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jan 2011)

Attributes

QA State: Curated
Type: Gene
Short Name:
HGNC Name: EDNRB

Datasets

There are no datasets associated with this biomarker.

Organs

The following organs have data associated with this biomarker…

Head & neck, NOS

Attributes

Phase: One
QA State: Curated

Overview

No additional data available.

Performance Comment

EDNRB is one of eight genes on a panel of differentially methylated genes from normal and OSCC clinical samples from patients with heterogenous risk profiles chosen for further validation. The eight genes are: HOXA9, NID2, GATA4, KIF1A, EDNRB, MCAM, DCC, and CALCA.

Studies

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

Biomuta

Mutation Statistics

Gene Name: EDNRB
UniProt Accession #: P24530
Mutated Sites Count: 211
Associated Pubmed ID Count 12
CancerDO Count 20
Affected Protein Function Sites Count: 4

View in BioMuta