ITGB7
integrin subunit beta 7
Summary
This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer's patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs369869580 | 12:53,585,418 | G/C | — | uncertain significance |
| rs951639263 | 12:53,585,649 | C/A | — | uncertain significance |
| rs757498688 | 12:53,585,681 | G/A | — | uncertain significance |
| rs773128859 | 12:53,585,713 | G/A | — | uncertain significance |
| rs776572791 | 12:53,585,719 | C/T | — | uncertain significance |
| rs1941967720 | 12:53,585,731 | A/G | — | uncertain significance |
| rs2539910527 | 12:53,586,243 | T/G | — | uncertain significance |
| rs11539433 | 12:53,586,255 | G/A | — | benign |
| rs770184874 | 12:53,586,263 | G/C | — | uncertain significance |
| rs150955757 | 12:53,586,274 | G/A | — | benign |
| rs141289593 | 12:53,586,485 | C/T | — | uncertain significance |
| rs149819743 | 12:53,586,519 | T/C | — | benign |
| rs61754162 | 12:53,586,536 | C/T | — | benign |
| rs143018472 | 12:53,586,568 | C/T | — | likely benign |
| rs1942013196 | 12:53,586,677 | A/G | — | uncertain significance |
| rs747008975 | 12:53,586,947 | C/T | — | uncertain significance |
| rs371662481 | 12:53,587,010 | C/T | — | likely benign |
| rs868402338 | 12:53,587,046 | G/A | — | uncertain significance |
| rs769195146 | 12:53,587,067 | C/T | — | uncertain significance |
| rs766953169 | 12:53,587,124 | C/T | — | uncertain significance |
| rs373625670 | 12:53,587,511 | G/T | — | uncertain significance |
| rs1164112050 | 12:53,587,552 | G/T | — | uncertain significance |
| rs61730605 | 12:53,587,586 | A/G | — | benign |
| rs150966538 | 12:53,587,596 | C/G | — | benign |
| rs114435093 | 12:53,587,995 | C/T | — | likely benign |
| rs200281008 | 12:53,589,216 | A/G | — | uncertain significance |
| rs371126896 | 12:53,589,427 | C/T | — | likely benign |
| rs1315538522 | 12:53,589,908 | C/T | — | uncertain significance |
| rs2539932564 | 12:53,589,947 | C/T | — | uncertain significance |
| rs140683557 | 12:53,589,950 | G/C | — | uncertain significance |
| rs1268981360 | 12:53,590,407 | G/T | — | uncertain significance |
| rs2539935749 | 12:53,590,485 | C/T | — | uncertain significance |
| rs200757321 | 12:53,591,279 | A/G | — | uncertain significance |
| rs780684197 | 12:53,591,540 | G/A | — | uncertain significance |
| rs2539941907 | 12:53,591,650 | A/G | — | uncertain significance |
| rs752420908 | 12:53,591,657 | C/T | — | uncertain significance |
| rs1182751116 | 12:53,591,728 | G/A | — | uncertain significance |
| rs12232003 | 12:53,593,632 | T/C | regulatory region variant | — |
| rs999733791 | 12:53,594,062 | G/T | — | uncertain significance |
| rs143981621 | 12:53,594,125 | G/A | — | uncertain significance |
| rs371842556 | 12:53,594,199 | A/G | — | uncertain significance |
| rs11574532 | 12:53,594,438 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.