ITGA2B Chromosome 17
Integrin subunit alpha 2b
Upload your DNA to see your personal genotypes for variants in ITGA2B.
What This Gene Does
This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"CD molecules|Protein phosphatase 1 regulatory subunits|Integrin alpha subunits|Human platelet antigens"
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000005961
Associated Conditions (12)
Platelet-type bleeding disorder 16
Glanzmann thrombasthenia
ITGA2B-related disorder
Glanzmann thrombasthenia 1
Inborn genetic diseases
Lung cancer
Abnormal platelet aggregation
Gastric cancer
Macrothrombocytopenia
Abnormal bleeding
Thrombocytopenia
Abnormal platelet function
Key Variants
RS1331554337
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 16, Platelet-type bleeding disorder 16
Health Risk
RS2048643952
Conflicting classifications of pathogenicity
Glanzmann thrombasthenia, Glanzmann thrombasthenia
Health Risk
RS540296465
Conflicting classifications of pathogenicity
Glanzmann thrombasthenia, Glanzmann thrombasthenia
Health Risk
RS74988902
Conflicting classifications of pathogenicity
Glanzmann thrombasthenia, ITGA2B-related disorder, Platelet-type bleeding disorder 16
Health Risk
RS759462215
Conflicting classifications of pathogenicity
Glanzmann thrombasthenia, Glanzmann thrombasthenia
Health Risk
RS773649547
Conflicting classifications of pathogenicity
Glanzmann thrombasthenia 1, Inborn genetic diseases, Glanzmann thrombasthenia 1
Health Risk
RS879255514
Conflicting classifications of pathogenicity
ITGA2B-related disorder, Glanzmann thrombasthenia, ITGA2B-related disorder
Health Risk
RS955851548
Conflicting classifications of pathogenicity
Glanzmann thrombasthenia, Glanzmann thrombasthenia
Health Risk
RS1166506747
Likely pathogenic
Glanzmann thrombasthenia, Glanzmann thrombasthenia
Health Risk
RS1182502058
Likely pathogenic
Glanzmann thrombasthenia, Glanzmann thrombasthenia 1, Lung cancer
Health Risk
RS1196551352
Likely pathogenic
Glanzmann thrombasthenia, Glanzmann thrombasthenia
Health Risk
RS1210788594
Likely pathogenic
Glanzmann thrombasthenia, Glanzmann thrombasthenia
Health Risk
All Variants (239)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1214448436 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS1236922680 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia 1, Glanzmann thrombasthenia |
| RS1261397461 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS1291613591 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS1344768030 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS137852906 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia 1, Platelet-type bleeding disorder 16 |
| RS137852908 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia 1, Glanzmann thrombasthenia |
| RS137852910 | Health Risk | Pathogenic | Glanzmann thrombasthenia 1, Glanzmann thrombasthenia, Glanzmann thrombasthenia 1 |
| RS1389409325 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS1469711487 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia 1, Glanzmann thrombasthenia |
| RS1472992102 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS1476448476 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS148618973 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS151179377 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS1555613692 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS1567906131 | Health Risk | Pathogenic | Glanzmann thrombasthenia, ITGA2B-related disorder, Glanzmann thrombasthenia |
| RS1598375779 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS1598377051 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS1598377980 | Health Risk | Pathogenic | Macrothrombocytopenia, Glanzmann thrombasthenia, Macrothrombocytopenia |
| RS1598381778 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS200846140 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048521407 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048521625 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia 1, Glanzmann thrombasthenia |
| RS2048523431 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048534441 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048535487 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia 1, Glanzmann thrombasthenia |
| RS2048535976 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048538273 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048539289 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048550327 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048550784 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048557402 | Health Risk | Pathogenic | Abnormal bleeding, Thrombocytopenia, Abnormal bleeding |
| RS2048557642 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048581747 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048583710 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048585829 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia 1, ITGA2B-related disorder |
| RS2048587538 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048615415 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048615633 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048632055 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048632227 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048635467 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048640485 | Health Risk | Pathogenic | Glanzmann thrombasthenia 1, Glanzmann thrombasthenia, Glanzmann thrombasthenia 1 |
| RS2048640591 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048645725 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Platelet-type bleeding disorder 16, Glanzmann thrombasthenia 1 |
| RS2048646082 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia 1, Glanzmann thrombasthenia |
| RS2048646560 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048678209 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048678902 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2143427792 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |