GENE REFERENCE / HGNC:6155

ITGB2

integrin subunit beta 2

protein-coding gene21q22.3Gene information

What does this gene do?

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.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2014-04.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,059
Submissions for variants in or overlapping this gene: 1,676
Submissions explicitly reporting this gene: 1,541
Alleles reported pathogenic / likely pathogenic: 91
VariationIDs with uncertain significance: 364
VariationIDs with conflicting classifications: 49

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about ITGB2?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 91 alleles in ITGB2 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ITGB2.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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