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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.
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.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
At least two mutations in the NOTCH2 gene that cause Alagille syndrome have been identified. These mutations probably result in a Notch2 receptor that is abnormally small or folded into the wrong 3-dimensional shape. The defective protein may impair the interaction between the Notch2 receptor and one of its ligands, Jagged-1, which would disrupt signaling. Disrupted signaling is believed to cause errors in development of the heart, liver, kidney, and other parts of the body, resulting in the signs and symptoms of Alagille syndrome.
Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are not inherited, are called somatic mutations. Somatic mutations of the NOTCH2 gene have been found in some cancers of immune system cells (lymphomas). These mutations appear to increase the activity (expression) of the NOTCH2 gene. In some affected cells, extra copies of the mutated gene have been found, further increasing gene activity. The increased gene expression may lead to uncontrolled cell growth and cell division in immune system cells, which can result in the development of a cancerous tumor.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cell ; cell division ; embryo ; gene ; gene expression ; immune system ; kidney ; protein ; receptor ; syndrome ; tissue ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.