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Reviewed August 2012
What is the official name of the EDNRB gene?
The official name of this gene is “endothelin receptor type B.”
EDNRB is the gene's official symbol. The EDNRB gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the EDNRB gene?
The EDNRB gene provides instructions for making a protein called endothelin receptor type B. This protein is located on the surface of cells and functions as a signaling mechanism, transmitting information from outside the cell to inside the cell. The receptor interacts with proteins called endothelins to regulate several critical biological processes, including the development and function of blood vessels, the production of certain hormones, and the stimulation of cell growth and division.
Endothelin 3 (produced from the EDN3 gene) is one of the proteins that interacts with endothelin receptor type B. During early development before birth (embryonic development), endothelin 3 and endothelin receptor type B together play an important role in neural crest cells. These cells migrate from the developing spinal cord to specific regions in the embryo, where they give rise to many different types of cells. In particular, endothelin 3 and its receptor are essential for the normal formation of nerves in the intestine (enteric nerves) and melanocytes. Melanocytes are cells that produce melanin, a pigment that contributes to skin, hair, and eye color. Melanin is also involved in the normal function of the inner ear.
Does the EDNRB gene share characteristics with other genes?
The EDNRB gene belongs to a family of genes called GPCR (G protein-coupled receptors).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the EDNRB gene related to health conditions?
Where is the EDNRB gene located?
Cytogenetic Location: 13q22
Molecular Location on chromosome 13: base pairs 78,469,615 to 78,549,663
The EDNRB gene is located on the long (q) arm of chromosome 13 at position 22.
More precisely, the EDNRB gene is located from base pair 78,469,615 to base pair 78,549,663 on chromosome 13.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about EDNRB?
You and your healthcare professional may find the following resources about EDNRB helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the EDNRB gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding EDNRB?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (14 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.