GENE REFERENCE / HGNC:6138

ITGA2B

integrin subunit alpha 2b

protein-coding gene17q21.31Gene information

What does this gene do?

The ITGA2B gene provides instructions for making one part, the alphaIIb subunit, of a receptor complex called integrin alphaIIb/beta3 (αIIbβ3), which is found on the surface of small cells called platelets. Platelets circulate in blood and are an essential component of blood clots. The alphaIIb subunit attaches (binds) to the beta3 subunit, which is produced from the ITGB3 gene, to form integrin αIIbβ3. It is estimated that 80,000 to 100,000 copies of integrin αIIbβ3 are present on the surface of each platelet.

During clot formation, integrin αIIbβ3 binds to a protein called fibrinogen. Attachment of integrin αIIbβ3 from adjacent platelets to the same fibrinogen protein helps platelets cluster together (platelet cohesion) to form a blood clot. Blood clots protect the body after injury by sealing off damaged blood vessels and preventing further blood loss. Integrin αIIbβ3 can also bind other proteins on platelets and in blood as well as proteins within the intricate lattice that forms in the space between cells (extracellular matrix) to ensure proper clot formation and promote wound healing.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-04-11. Source review: 2015-09.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
platelet-type bleeding disorder 16MONDO:0008552 · Evaluated 2023-11-06	Autosomal dominant	DefinitiveHemostasis/Thrombosis Gene Curation Expert Panel
Glanzmann thrombastheniaMONDO:0100326 · Evaluated 2019-09-04	Autosomal recessive	DefinitiveHemostasis/Thrombosis Gene Curation Expert Panel

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: 1,061
Submissions for variants in or overlapping this gene: 1,742
Submissions explicitly reporting this gene: 1,694
Alleles reported pathogenic / likely pathogenic: 269
VariationIDs with uncertain significance: 458
VariationIDs with conflicting classifications: 17

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 ITGA2B?

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 269 alleles in ITGA2B 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 ITGA2B.

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

Buy BioDecode See a sample report →Check file compatibility →