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Reviewed February 2015
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. Attachment of a ligand to the Notch2 receptor sends signals that are important for normal development and function of many tissues throughout the body, both before and after birth. In particular, research indicates that Notch2 signaling is important for the development of cells destined to be part of the heart, liver, kidneys, teeth, bones, and other structures in a growing embryo. After birth, Notch2 signaling is involved in immune system function, tissue repair, and a process called bone remodeling, in which old bone is removed and new bone is created to replace it.
The Notch2 receptor has several major parts. A region of the receptor called the extracellular domain extends from the surface of the cell and binds to ligands. This binding triggers the part of the receptor inside the cell, known as the intracellular domain or NICD, to be cut (cleaved) from the rest of the protein. The NICD then moves into the cell's nucleus, where it interacts with other proteins to regulate the activity of specific genes. The very end of the NICD contains a region known as a proline-, glutamic acid-, serine-, and threonine-rich (PEST) domain. The PEST domain is necessary for the NICD to be broken down, which stops Notch2 signaling at the appropriate time.
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 119,911,552 to 120,069,702
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 119,911,552 to base pair 120,069,702 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?
bone remodeling ; cell ; cell division ; domain ; embryo ; exon ; extracellular ; gene ; glutamic acid ; immune system ; inherited ; intracellular ; ligand ; lymphoma ; nucleus ; osteoporosis ; proline ; protein ; receptor ; serine ; short stature ; stature ; syndrome ; threonine ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 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.