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Reviewed April 2010
What is the official name of the NOTCH2 gene?
The official name of this gene is “notch 2.”
NOTCH2 is the gene's official symbol. The NOTCH2 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 NOTCH2 gene?
The NOTCH2 gene provides instructions for making a protein called Notch2, a member of the Notch family of receptors. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals between neighboring cells that affect cell development and function.
The Notch2 receptor has five ligands: Jagged-1 and 2, and Delta-like 1, 3, and 4. Together, these proteins send signals that are important for development before birth. Research indicates that signals triggered by the interaction between Notch2 and its ligands are important for the development of cells destined to be part of the heart, liver, kidney, teeth, and other structures in a growing embryo. After birth, Notch2 signaling is involved in tissue repair.
Does the NOTCH2 gene share characteristics with other genes?
The NOTCH2 gene belongs to a family of genes called ANKRD (ankyrin repeat domain containing).
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 NOTCH2 gene related to health conditions?
Where is the NOTCH2 gene located?
Cytogenetic Location: 1p13-p11
Molecular Location on chromosome 1: base pairs 120,454,175 to 120,639,879
The NOTCH2 gene is located on the short (p) arm of chromosome 1 between positions 13 and 11.
More precisely, the NOTCH2 gene is located from base pair 120,454,175 to base pair 120,639,879 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about NOTCH2?
You and your healthcare professional may find the following resources about NOTCH2 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 NOTCH2 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 NOTCH2?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 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.