ITGA2 Chromosome 5
Integrin subunit alpha 2
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What This Gene Does
This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
"CD molecules|Integrin alpha subunits|Human platelet antigens"
Locus Type
gene with protein product
Location
5q11.2
Ensembl
ENSG00000164171
Associated Conditions (4)
Platelet-type bleeding disorder 9
Inborn genetic diseases
ITGA2-related disorder
Lung cancer
Key Variants
RS148313613
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 9, Inborn genetic diseases, ITGA2-related disorder
Health Risk
RS199575892
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 9, Inborn genetic diseases, Platelet-type bleeding disorder 9
Health Risk
RS377150294
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 9, Inborn genetic diseases, Platelet-type bleeding disorder 9
Health Risk
RS41441846
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 9, Lung cancer, Inborn genetic diseases
Health Risk
RS541732593
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 9, ITGA2-related disorder, Inborn genetic diseases
Health Risk
RS767342253
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 9, Inborn genetic diseases, Platelet-type bleeding disorder 9
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148313613 | Health Risk | Conflicting classifications of pathogenicity | Platelet-type bleeding disorder 9, Inborn genetic diseases, ITGA2-related disorder |
| RS199575892 | Health Risk | Conflicting classifications of pathogenicity | Platelet-type bleeding disorder 9, Inborn genetic diseases, Platelet-type bleeding disorder 9 |
| RS377150294 | Health Risk | Conflicting classifications of pathogenicity | Platelet-type bleeding disorder 9, Inborn genetic diseases, Platelet-type bleeding disorder 9 |
| RS41441846 | Health Risk | Conflicting classifications of pathogenicity | Platelet-type bleeding disorder 9, Lung cancer, Inborn genetic diseases |
| RS541732593 | Health Risk | Conflicting classifications of pathogenicity | Platelet-type bleeding disorder 9, ITGA2-related disorder, Inborn genetic diseases |
| RS767342253 | Health Risk | Conflicting classifications of pathogenicity | Platelet-type bleeding disorder 9, Inborn genetic diseases, Platelet-type bleeding disorder 9 |