ITGA2
integrin subunit alpha 2
Summary
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]
Known Variants281 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs26680 | 5:52,284,386 | T/C | regulatory region variant | — |
| rs27646 | 5:52,285,077 | C/G | — | benign |
| rs41308844 | 5:52,285,098 | T/G | — | benign |
| rs28095 | 5:52,285,117 | T/C | — | benign |
| rs3212385 | 5:52,285,175 | G/A | — | benign |
| rs886060656 | 5:52,285,200 | G/C | — | uncertain significance |
| rs543948644 | 5:52,285,210 | T/A | — | uncertain significance |
| rs768692399 | 5:52,285,264 | C/T | — | uncertain significance |
| rs143667535 | 5:52,285,286 | G/A | — | benign |
| rs559975113 | 5:52,285,309 | A/G | — | benign |
| rs779969604 | 5:52,285,312 | G/C | — | uncertain significance |
| rs1740804694 | 5:52,285,323 | G/T | — | likely benign |
| rs40118 | 5:52,285,667 | G/C | — | benign |
| rs1592795 | 5:52,309,675 | A/G | intron variant | — |
| rs72760414 | 5:52,313,983 | C/T | intron variant | — |
| rs3212666 | 5:52,322,369 | A/G | — | benign |
| rs374701439 | 5:52,322,598 | G/A | — | uncertain significance |
| rs140852048 | 5:52,322,636 | C/T | — | benign |
| rs780441074 | 5:52,322,684 | T/A | — | uncertain significance |
| rs1352106448 | 5:52,322,696 | C/A | — | uncertain significance |
| rs758980432 | 5:52,322,708 | T/C | — | uncertain significance |
| rs26678 | 5:52,322,721 | T/G | — | benign |
| rs3212438 | 5:52,337,756 | A/G | — | benign |
| rs3212439 | 5:52,337,783 | T/C | — | benign |
| rs3212441 | 5:52,337,908 | C/T | — | benign |
| rs2478306701 | 5:52,337,968 | G/A | — | uncertain significance |
| rs143262642 | 5:52,337,983 | G/A | — | likely benign |
| rs576511920 | 5:52,338,006 | C/G | — | uncertain significance |
| rs200476815 | 5:52,338,024 | G/A | — | benign |
| rs1363192 | 5:52,338,083 | T/G | — | benign |
| rs27956 | 5:52,338,227 | T/A | — | benign |
| rs2287950 | 5:52,338,241 | G/A | — | benign |
| rs1316250 | 5:52,338,276 | T/C | — | benign |
| rs188816090 | 5:52,340,862 | G/A | — | benign |
| rs775692909 | 5:52,340,867 | C/A | — | uncertain significance |
| rs1432056940 | 5:52,340,922 | C/T | — | likely benign |
| rs1421937 | 5:52,341,064 | A/G | — | benign |
| rs3212461 | 5:52,341,110 | T/G | — | benign |
| rs3212483 | 5:52,343,901 | C/T | — | benign |
| rs3212486 | 5:52,344,046 | G/A | — | benign |
| rs148042733 | 5:52,344,242 | C/T | — | uncertain significance |
| rs752392366 | 5:52,344,319 | A/G | — | uncertain significance |
| rs55973669 | 5:52,344,487 | A/G | — | likely benign |
| rs190131248 | 5:52,344,543 | A/G | — | uncertain significance |
| rs773789837 | 5:52,344,572 | G/A | — | uncertain significance |
| rs886060657 | 5:52,344,584 | G/T | — | uncertain significance |
| rs1421933 | 5:52,344,610 | G/A | — | benign |
| rs3212487 | 5:52,344,780 | G/A | — | benign |
| rs2974978 | 5:52,344,837 | C/T | — | benign |
| rs26675 | 5:52,347,243 | G/A | — | benign |
| rs373539496 | 5:52,347,246 | G/T | — | benign |
| rs142956915 | 5:52,347,344 | A/G | — | uncertain significance |
| rs61737774 | 5:52,347,366 | A/C | — | likely benign |
| rs1126643 | 5:52,347,369 | C/T | synonymous variant | benign |
| rs1744365374 | 5:52,347,371 | G/A | — | uncertain significance |
| rs1833558 | 5:52,347,561 | G/A | — | benign |
| rs3212519 | 5:52,351,182 | A/G | — | benign |
| rs2910962 | 5:52,351,236 | T/C | — | benign |
| rs2974987 | 5:52,351,242 | A/G | — | benign |
| rs202058704 | 5:52,351,357 | A/T | — | likely benign |
| rs1139484 | 5:52,351,377 | T/C | — | benign |
| rs753108742 | 5:52,351,412 | C/T | — | uncertain significance |
| rs1062535 | 5:52,351,413 | G/A | synonymous variant | benign |
| rs3212521 | 5:52,351,437 | C/T | — | benign |
| rs41377544 | 5:52,351,459 | A/T | — | benign |
| rs1744596435 | 5:52,351,511 | G/C | — | uncertain significance |
| rs749281806 | 5:52,351,513 | A/T | — | uncertain significance |
| rs3212522 | 5:52,351,746 | G/A | — | benign |
| rs41272301 | 5:52,351,838 | G/A | — | benign |
| rs3212523 | 5:52,351,876 | A/G | — | benign |
| rs577503636 | 5:52,351,879 | C/T | — | benign |
| rs2897458 | 5:52,352,378 | A/C | — | — |
| rs1421929 | 5:52,353,613 | A/G | — | benign |
| rs140178479 | 5:52,353,866 | G/A | — | uncertain significance |
| rs191639470 | 5:52,353,875 | A/G | — | uncertain significance |
| rs199761570 | 5:52,353,876 | A/G | — | uncertain significance |
| rs541732593 | 5:52,353,899 | G/A | — | conflicting classifications of pathogenicity |
| rs996765 | 5:52,354,103 | A/T | — | benign |
| rs3212684 | 5:52,355,516 | A/G | — | benign |
| rs3212536 | 5:52,355,566 | A/G | — | benign |
| rs144998443 | 5:52,355,706 | T/C | — | likely benign |
| rs767342253 | 5:52,355,719 | G/A | — | conflicting classifications of pathogenicity |
| rs149096085 | 5:52,355,747 | G/A | — | uncertain significance |
| rs768138682 | 5:52,355,832 | T/C | — | likely benign |
| rs2303127 | 5:52,355,854 | T/C | — | benign |
| rs3212537 | 5:52,356,006 | C/T | — | benign |
| rs3212538 | 5:52,356,692 | T/C | — | benign |
| rs3212539 | 5:52,356,701 | T/G | — | benign |
| rs377150294 | 5:52,356,790 | C/T | — | conflicting classifications of pathogenicity |
| rs1237664713 | 5:52,356,791 | G/A | — | uncertain significance |
| rs775828798 | 5:52,356,829 | A/G | — | uncertain significance |
| rs763293160 | 5:52,356,842 | A/G | — | uncertain significance |
| rs1744884286 | 5:52,356,859 | G/A | — | uncertain significance |
| rs144256646 | 5:52,357,391 | G/T | intron variant | — |
| rs761985032 | 5:52,358,632 | G/A | — | uncertain significance |
| rs1489586116 | 5:52,358,670 | A/G | — | uncertain significance |
| rs757932706 | 5:52,358,681 | G/A | — | likely benign |
| rs1744961406 | 5:52,358,701 | T/A | — | uncertain significance |
| rs199808499 | 5:52,358,751 | A/C | — | likely benign |
| rs1801106 | 5:52,358,757 | G/A | missense variant | benign |
Showing 100 of 281 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.