|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “integrin, beta 2 (complement component 3 receptor 3 and 4 subunit).”
ITGB2 is the gene's official symbol. The ITGB2 gene is also known by other names, listed below.
The ITGB2 gene provides instructions for making one part (the β2 subunit) of at least four different proteins known as β2 integrins. The other subunit can be one of a variety of alpha (α) subunits that are produced from different genes. Integrins are a group of proteins that regulate the attachment of cells to one another (cell-cell adhesion) and to the surrounding network of proteins and other molecules (cell-matrix adhesion). Integrins also transmit signals that regulate cell growth and the activity of certain genes.
Integrins that contain the β2 subunit are found embedded in the membrane that surrounds white blood cells (leukocytes). β2 integrins help leukocytes gather at sites of infection or injury, where they are needed to contribute to the immune response. β2 integrins recognize signs of inflammation and attach (bind) to proteins called ligands on the lining of blood vessels. This binding leads to linkage (adhesion) of the leukocyte to the blood vessel wall. Signaling through the β2 integrins triggers the transport of the attached leukocyte across the blood vessel wall to the site of infection or injury.
The ITGB2 gene belongs to a family of genes called CD (CD molecules). It also belongs to a family of genes called complement (complement system). It also belongs to a family of genes called ITG (integrins).
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 90 mutations in the ITGB2 gene have been found to cause leukocyte adhesion deficiency type 1. This condition is characterized by severe, recurrent infections and delayed healing after injury. Many of the mutations that cause this condition change single protein building blocks (amino acids) in the β2 subunit and lead to the production of a β2 subunit that cannot bind with other subunits to form integrins. Rarely, defective β2 subunits are able to form integrins, but the integrins cannot bind ligands. Leukocytes that lack these integrins cannot attach to the blood vessel wall or cross the vessel wall to contribute to the immune response. As a result, there is a decreased response to injury and foreign invaders, such as bacteria and fungi, resulting in frequent infections, delayed wound healing, and other signs and symptoms of leukocyte adhesion deficiency type 1.
Cytogenetic Location: 21q22.3
Molecular Location on chromosome 21: base pairs 44,885,948 to 44,928,872
The ITGB2 gene is located on the long (q) arm of chromosome 21 at position 22.3.
More precisely, the ITGB2 gene is located from base pair 44,885,948 to base pair 44,928,872 on chromosome 21.
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 ITGB2 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.
acids ; bacteria ; cell ; cell adhesion ; deficiency ; gene ; immune response ; infection ; inflammation ; injury ; integrins ; leukocyte ; linkage ; protein ; receptor ; subunit ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference 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.