ITGA2B
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) |
| EntrezGene | 3674 |
| PheGenI | 3674 |
| VariationViewer | 3674 |
| ClinVar | ITGA2B |
| GeneCards | ITGA2B |
| dbSNP | 3674 |
| Diseases | ITGA2B |
| SADR | 3674 |
| HugeNav | 3674 |
| wikipedia | ITGA2B |
| ITGA2B | |
| gopubmed | ITGA2B |
| EVS | ITGA2B |
| HEFalMp | ITGA2B |
| MyGene2 | ITGA2B |
| 23andMe | ITGA2B |
| UniProt | P08514 |
| Ensembl | ENSG00000005961 |
| OMIM | 607759 |
| # SNPs | 32 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs137852906 | 3 | 44,380,004 | Glanzmann's thrombasthenia |
| rs137852907 | 3 | 44,384,567 | Glanzmann's thrombasthenia |
| rs137852908 | 3 | 44,383,630 | Glanzmann's thrombasthenia |
| rs137852909 | 3 | 44,381,019 | Glanzmann's thrombasthenia |
| rs137852910 | 3 | 44,383,640 | Glanzmann's thrombasthenia |
| rs137852911 | 3 | 44,385,193 | Glanzmann's thrombasthenia |
| rs5911 | 1.5 | 44,375,697 | |
| rs74475415 | 0 | 44,376,323 | |
| rs74602141 | 0 | 44,380,082 | |
| rs74664206 | 0 | 44,374,352 | |
| rs74857210 | 0 | 44,380,283 | |
| rs75028796 | 0 | 44,378,676 | |
| rs75622274 | 0 | 44,381,058 | |
| rs76066357 | 0 | 44,385,686 | |
| rs763330792 | 0 | 44,375,719 | |
| rs76572092 | 0 | 44,375,082 | |
| rs766503255 | 0 | 44,372,408 | |
| rs76811038 | 3 | 44,379,780 | Glanzmann's thrombasthenia |
| rs77229108 | 0 | 44,378,712 | |
| rs77458039 | 0 | 44,375,039 | |
| rs77961246 | 0 | 44,377,772 | |
| rs780017389 | 0 | 44,380,901 | |
| rs78165611 | 0 | 44,374,449 | |
| rs78218617 | 0 | 44,380,626 | |
| rs78321762 | 0 | 44,384,112 | |
| rs78657866 | 0 | 44,374,470 | |
| rs79657230 | 0 | 44,374,673 | |
| rs80002943 | 3 | 44,374,732 | Glanzmann's thrombasthenia |
| rs80277041 | 3 | 44,379,689 | Glanzmann's thrombasthenia |
| rs879255508 | 0 | 44,385,706 | |
| rs879255509 | 0 | 44,380,385 | |
| rs879255514 | 0 | 44,372,407 |
The ITGA2B gene is located on chromosome 17 and encodes platelet glycoprotein IIb, the alpha subunit of the platelet membrane adhesive protein receptor complex GPIIb/IIIa. [The beta subunit, GPIIIa, is encoded by the ITGB3 gene.] Mutations in either gene may lead to dominant or recessive forms of Glanzmann's thrombasthenia.
Mutations in the ITGA2B gene reported to be associated with recessive forms of Glanzmann's thrombasthenia include:
