ITGA4
integrin subunit alpha 4
Summary
The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Known Variants82 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs552087094 | 2:182,320,078 | A/T | — | — |
| rs113276800 | 2:182,322,220 | C/A | regulatory region variant | — |
| rs200784151 | 2:182,322,358 | T/G | regulatory region variant | — |
| rs201902294 | 2:182,322,426 | C/A | — | likely benign |
| rs762176587 | 2:182,322,430 | C/T | — | likely benign |
| rs202188020 | 2:182,322,463 | G/T | — | uncertain significance |
| rs374066058 | 2:182,322,505 | C/G | — | uncertain significance |
| rs1282310607 | 2:182,322,524 | A/G | — | uncertain significance |
| rs1204951984 | 2:182,322,945 | G/A | — | uncertain significance |
| rs1280395320 | 2:182,323,023 | A/G | — | uncertain significance |
| rs12988934 | 2:182,323,665 | C/T | intron variant | — |
| rs201013030 | 2:182,324,188 | T/A | — | — |
| rs2124440 | 2:182,328,214 | G/A | intron variant | — |
| rs13029144 | 2:182,334,684 | C/T | intron variant | — |
| rs189570672 | 2:182,339,690 | G/A | — | uncertain significance |
| rs1293314814 | 2:182,339,761 | T/C | — | uncertain significance |
| rs1179053739 | 2:182,339,921 | A/G | — | likely benign |
| rs571697202 | 2:182,340,005 | G/A | — | likely benign |
| rs147352104 | 2:182,345,003 | A/C | — | benign |
| rs375619768 | 2:182,346,365 | T/C | — | likely benign |
| rs2305588 | 2:182,347,072 | T/C | — | benign |
| rs155100 | 2:182,350,087 | T/A | intron variant | — |
| rs188654957 | 2:182,350,602 | A/G | — | benign |
| rs1685903382 | 2:182,350,633 | C/G | — | uncertain significance |
| rs200722520 | 2:182,350,640 | C/T | — | likely benign |
| rs750392526 | 2:182,358,063 | G/A | — | uncertain significance |
| rs908341302 | 2:182,358,102 | A/G | — | uncertain significance |
| rs139223161 | 2:182,359,546 | A/G | — | benign |
| rs181661156 | 2:182,360,090 | T/A | — | likely benign |
| rs1297908458 | 2:182,360,573 | A/C | — | likely benign |
| rs2468541152 | 2:182,360,625 | T/C | — | uncertain significance |
| rs2468544882 | 2:182,363,367 | A/C | — | uncertain significance |
| rs762162921 | 2:182,363,368 | G/A | — | uncertain significance |
| rs200957447 | 2:182,363,391 | G/C | — | likely benign |
| rs1281521487 | 2:182,363,419 | C/A | — | uncertain significance |
| rs201961822 | 2:182,363,436 | G/A | — | uncertain significance |
| rs2468544989 | 2:182,363,448 | A/G | — | uncertain significance |
| rs201930987 | 2:182,374,391 | G/A | — | uncertain significance |
| rs199750071 | 2:182,374,455 | G/A | — | uncertain significance |
| rs143807085 | 2:182,374,522 | A/C | — | benign |
| rs1185344876 | 2:182,374,533 | C/T | — | uncertain significance |
| rs1143674 | 2:182,374,534 | A/C | splice region variant | — |
| rs1964512 | 2:182,376,063 | T/G | intron variant | — |
| rs200238285 | 2:182,376,462 | T/C | — | uncertain significance |
| rs35322532 | 2:182,376,480 | T/A | — | benign |
| rs760310901 | 2:182,386,929 | A/G | — | uncertain significance |
| rs201430122 | 2:182,386,969 | G/A | — | uncertain significance |
| rs756318605 | 2:182,386,974 | A/G | — | uncertain significance |
| rs2468576029 | 2:182,386,977 | T/C | — | uncertain significance |
| rs35021228 | 2:182,387,014 | G/A | — | likely benign |
| rs55811963 | 2:182,387,032 | A/C | — | benign |
| rs746807429 | 2:182,387,036 | G/A | — | likely benign |
| rs200652091 | 2:182,388,941 | C/T | — | uncertain significance |
| rs190472017 | 2:182,388,942 | G/A | — | benign |
| rs180712140 | 2:182,388,949 | G/T | — | uncertain significance |
| rs199949268 | 2:182,389,949 | A/G | — | uncertain significance |
| rs767500 | 2:182,390,455 | T/A | — | — |
| rs201392381 | 2:182,392,037 | A/G | — | uncertain significance |
| rs3770105 | 2:182,393,759 | C/A | — | — |
| rs3770104 | 2:182,394,145 | C/T | intron variant | — |
| rs1143675 | 2:182,394,308 | T/C | — | conflicting classifications of pathogenicity |
| rs1025510864 | 2:182,394,328 | T/A | — | uncertain significance |
| rs921257 | 2:182,394,567 | A/G | intron variant | — |
| rs188125632 | 2:182,395,241 | G/T | — | benign |
| rs759860360 | 2:182,395,296 | G/T | — | uncertain significance |
| rs1010184904 | 2:182,395,342 | T/G | — | uncertain significance |
| rs1143676 | 2:182,395,345 | G/A | missense variant | — |
| rs6433921 | 2:182,396,032 | T/A | — | — |
| rs757365079 | 2:182,396,403 | C/T | — | uncertain significance |
| rs200314822 | 2:182,396,429 | T/C | — | uncertain significance |
| rs1839266 | 2:182,396,875 | C/G | downstream gene variant | — |
| rs199618280 | 2:182,399,071 | C/G | — | uncertain significance |
| rs200589484 | 2:182,399,093 | C/T | — | uncertain significance |
| rs201433950 | 2:182,399,094 | G/A | — | likely benign |
| rs201929112 | 2:182,399,536 | C/G | — | likely benign |
| rs749457293 | 2:182,399,547 | T/C | — | uncertain significance |
| rs2468595456 | 2:182,399,561 | C/T | — | uncertain significance |
| rs530546454 | 2:182,399,565 | A/G | — | uncertain significance |
| rs201540166 | 2:182,399,609 | A/G | — | uncertain significance |
| rs866266890 | 2:182,399,627 | A/G | — | uncertain significance |
| rs184369582 | 2:182,399,628 | T/C | — | uncertain significance |
| rs1347118871 | 2:182,400,178 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.