ITGAL
integrin subunit alpha L
Summary
ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11150589 | 16:30,482,494 | T/C | regulatory region variant | — |
| rs11574938 | 16:30,485,393 | G/C | regulatory region variant | — |
| rs562768718 | 16:30,485,520 | C/T | — | uncertain significance |
| rs1040873306 | 16:30,485,556 | G/A | — | uncertain significance |
| rs34166708 | 16:30,490,515 | G/A | — | benign |
| rs1064524 | 16:30,492,823 | C/T | missense variant | — |
| rs140551792 | 16:30,492,896 | A/G | — | uncertain significance |
| rs61734183 | 16:30,495,499 | G/A | — | benign |
| rs758570245 | 16:30,495,535 | G/C | — | uncertain significance |
| rs1285212944 | 16:30,495,543 | A/T | — | uncertain significance |
| rs7197010 | 16:30,495,657 | T/A | — | — |
| rs11574942 | 16:30,500,481 | G/A | — | benign |
| rs2050690890 | 16:30,500,581 | G/A | — | uncertain significance |
| rs3087437 | 16:30,500,716 | G/T | — | benign |
| rs771500045 | 16:30,505,541 | G/C | — | uncertain significance |
| rs201731849 | 16:30,505,560 | G/A | — | likely benign |
| rs200737227 | 16:30,505,601 | C/G | — | uncertain significance |
| rs756655021 | 16:30,506,067 | G/A | — | likely benign |
| rs199716730 | 16:30,507,473 | G/A | — | uncertain significance |
| rs758416754 | 16:30,507,493 | G/T | — | uncertain significance |
| rs762192654 | 16:30,507,556 | C/G | — | uncertain significance |
| rs1049539142 | 16:30,507,571 | A/C | — | uncertain significance |
| rs201352078 | 16:30,507,770 | C/A | — | uncertain significance |
| rs750373265 | 16:30,507,880 | G/A | — | uncertain significance |
| rs748355671 | 16:30,510,492 | A/C | — | uncertain significance |
| rs887310692 | 16:30,510,516 | A/G | — | likely benign |
| rs2544059522 | 16:30,510,532 | A/C | — | uncertain significance |
| rs4243232 | 16:30,514,723 | C/G | — | — |
| rs2073917 | 16:30,516,492 | A/C | — | — |
| rs778561596 | 16:30,516,605 | A/G | — | uncertain significance |
| rs200200372 | 16:30,516,751 | G/C | — | uncertain significance |
| rs1438986065 | 16:30,518,142 | C/A | — | uncertain significance |
| rs143575422 | 16:30,518,143 | C/T | — | uncertain significance |
| rs7201914 | 16:30,522,255 | G/T | — | benign |
| rs2151204363 | 16:30,525,140 | G/C | — | uncertain significance |
| rs2051178121 | 16:30,528,403 | A/G | — | uncertain significance |
| rs3764322 | 16:30,528,611 | A/G | intron variant | — |
| rs1567492105 | 16:30,528,973 | C/T | — | uncertain significance |
| rs59353760 | 16:30,529,143 | G/A | — | likely benign |
| rs201206480 | 16:30,530,026 | G/A | — | uncertain significance |
| rs764924318 | 16:30,532,848 | G/A | — | uncertain significance |
| rs1028308425 | 16:30,532,867 | C/T | — | likely benign |
| rs11574950 | 16:30,532,929 | C/T | — | benign |
| rs558796664 | 16:30,532,956 | G/T | — | uncertain significance |
| rs34967993 | 16:30,533,120 | G/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.