ITGB8
integrin subunit beta 8
Summary
This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs947046008 | 7:20,371,448 | G/A | — | uncertain significance |
| rs750337028 | 7:20,371,545 | T/C | — | uncertain significance |
| rs1023838873 | 7:20,371,551 | A/G | — | uncertain significance |
| rs7805218 | 7:20,378,801 | G/A | intron variant | — |
| rs3807932 | 7:20,381,826 | T/C | intron variant | — |
| rs17364861 | 7:20,390,131 | A/C | — | — |
| rs79182292 | 7:20,393,328 | G/T | — | — |
| rs10251386 | 7:20,397,907 | T/C | intron variant | — |
| rs13232403 | 7:20,398,192 | G/A | intron variant | — |
| rs571679699 | 7:20,403,311 | C/T | — | uncertain significance |
| rs1034995435 | 7:20,406,662 | G/A | — | uncertain significance |
| rs369597972 | 7:20,406,666 | G/A | — | uncertain significance |
| rs989667857 | 7:20,406,717 | T/C | — | uncertain significance |
| rs373295993 | 7:20,406,794 | A/G | — | uncertain significance |
| rs10239099 | 7:20,408,874 | G/T | — | — |
| rs3807945 | 7:20,415,826 | G/A | upstream gene variant | — |
| rs2040732 | 7:20,418,134 | C/T | downstream gene variant | — |
| rs12700188 | 7:20,418,190 | A/G | downstream gene variant | — |
| rs777027981 | 7:20,418,679 | G/A | — | uncertain significance |
| rs768194871 | 7:20,418,790 | G/A | — | uncertain significance |
| rs142263323 | 7:20,418,794 | G/C | — | uncertain significance |
| rs943883720 | 7:20,418,799 | G/A | — | uncertain significance |
| rs147908281 | 7:20,418,829 | C/T | — | uncertain significance |
| rs147814088 | 7:20,420,344 | A/T | — | uncertain significance |
| rs6944180 | 7:20,420,992 | A/T | — | — |
| rs573500863 | 7:20,421,437 | G/T | — | uncertain significance |
| rs750312968 | 7:20,421,462 | G/C | — | uncertain significance |
| rs79180837 | 7:20,429,675 | G/A | intron variant | — |
| rs138593316 | 7:20,434,528 | C/A | — | uncertain significance |
| rs546211111 | 7:20,434,553 | G/A | — | uncertain significance |
| rs201243170 | 7:20,434,560 | A/G | — | uncertain significance |
| rs746100802 | 7:20,438,549 | G/A | — | uncertain significance |
| rs780891294 | 7:20,438,558 | C/A | — | uncertain significance |
| rs34436326 | 7:20,439,552 | G/A | intron variant | — |
| rs141933396 | 7:20,441,419 | A/G | — | uncertain significance |
| rs150701020 | 7:20,441,437 | G/A | — | likely benign |
| rs1300301773 | 7:20,441,455 | A/G | — | uncertain significance |
| rs764769444 | 7:20,441,476 | G/A | — | uncertain significance |
| rs139948779 | 7:20,441,533 | T/C | — | uncertain significance |
| rs2534497553 | 7:20,441,543 | G/A | — | uncertain significance |
| rs2534497685 | 7:20,441,550 | G/T | — | uncertain significance |
| rs139989805 | 7:20,441,664 | C/G | — | uncertain significance |
| rs2534517251 | 7:20,444,251 | G/A | — | uncertain significance |
| rs771533036 | 7:20,444,292 | G/A | — | uncertain significance |
| rs2534519754 | 7:20,444,446 | C/A | — | uncertain significance |
| rs3956540 | 7:20,444,982 | A/C | — | — |
| rs570372889 | 7:20,445,707 | C/T | — | uncertain significance |
| rs768529387 | 7:20,445,755 | G/A | — | uncertain significance |
| rs751381514 | 7:20,445,782 | G/A | — | uncertain significance |
| rs765157346 | 7:20,449,352 | G/T | — | uncertain significance |
| rs953061426 | 7:20,449,498 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.