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EDNRB gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

EDNRB gene

The EDNRB gene provides instructions for the endothelin receptor type B, which is essential for the development of intestinal nerves and pigment-producing cells.

Normal Function

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 (proliferation).

Endothelin 3 is one of the proteins that interacts with endothelin receptor type B. During early development before birth, 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 endothelin receptor type B are essential for the formation of nerves in the intestine (enteric nerves) and for the production of specialized cells called melanocytes. Melanocytes produce melanin, a pigment that contributes to skin, hair, and eye color. Melanin is also involved in the normal function of the inner ear.

Health Conditions Related to Genetic Changes

Hirschsprung disease

Variants in the EDNRB gene have been found to cause Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. Although Hirschsprung disease is a feature of another condition called Waardenburg syndrome type IV, EDNRB gene variants can also cause Hirschsprung disease in people without Waardenburg syndrome. People with a variant in one of the two copies of the EDNRB gene tend to develop Hirschsprung disease, while people with variants in both copies of the gene usually develop Waardenburg syndrome type IV. Changes in the EDNRB gene disrupt the normal function of endothelin receptor type B, preventing it from playing its usual role in the development of enteric nerves. As a result, these cells do not form normally during embryonic development. A lack of enteric nerves prevents stool from being moved through the intestine normally, leading to severe constipation or intestinal blockage.

Waardenburg syndrome

Variants in the EDNRB gene have been identified in people with Waardenburg syndrome type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome). This type of Waardenburg syndrome is characterized by changes in skin, hair, and eye coloring; hearing loss; and Hirschsprung disease. Variants in the EDNRB gene disrupt the normal function of endothelin receptor type B or lead to the production of an abnormally small, nonfunctional version of the protein. Because the receptor is necessary for the formation of enteric nerves and melanocytes, these cell types do not form normally during embryonic development. Missing enteric nerves in certain parts of the intestine cause the signs and symptoms of Hirschsprung disease. A lack of melanocytes affects the coloring of skin, hair, and eyes and causes the hearing loss characteristic of Waardenburg syndrome.

Cancers

Several studies have suggested that inherited variations in the EDNRB gene may be associated with an increased risk of melanoma, a common form of skin cancer that begins in melanocytes. However, other studies have not shown this association, and this gene's role in cancer risk remains unclear.

Other Names for This Gene

  • ABCDS
  • EDNRB_HUMAN
  • endothelin receptor, non-selective type
  • ETB
  • ETBR
  • ETRB
  • HSCR
  • HSCR2
  • RP11-318G21.1
  • WS4A

Frequently Asked Questions

nswer: The EDNRB gene is crucial for forming nerves in the intestine (enteric nerves) during development. When there's a variant in this gene, these nerves may not develop properly in parts of the colon. Without these nerves, the affected section of the intestine cannot move stool through, leading to severe constipation or blockage characteristic of Hirschsprung disease.
nswer: The inheritance pattern for EDNRB-related Hirschsprung disease can vary, but it is often autosomal recessive or dominant with incomplete penetrance. This means that if both parents carry a variant, or if one parent has the condition, there's a specific chance for each child to inherit the variant and potentially develop the disease. Genetic counseling is recommended to understand the specific risks for your family.
nswer: The EDNRB gene is also involved in the development of melanocytes, which produce pigment for skin, hair, eyes, and are important for inner ear function. Therefore, changes in EDNRB can sometimes be associated with pigmentary changes (like patches of white hair or skin) and hearing loss, which are features of Waardenburg syndrome type IV.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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