F11R
F11 receptor
Summary
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [provided by RefSeq, Jul 2008]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs559768099 | 1:160,964,962 | A/C | — | — |
| rs41267955 | 1:160,968,162 | G/A | 3 prime UTR variant | — |
| rs146651683 | 1:160,968,677 | G/A | — | uncertain significance |
| rs911271558 | 1:160,969,490 | T/A | — | uncertain significance |
| rs753566681 | 1:160,969,505 | C/T | — | uncertain significance |
| rs563222404 | 1:160,969,531 | C/T | — | uncertain significance |
| rs199703485 | 1:160,969,678 | G/A | — | uncertain significance |
| rs780826713 | 1:160,969,705 | C/G | — | uncertain significance |
| rs368748813 | 1:160,969,717 | G/A | — | uncertain significance |
| rs1648387304 | 1:160,969,949 | G/A | — | uncertain significance |
| rs563452002 | 1:160,969,985 | C/A | — | uncertain significance |
| rs773521650 | 1:160,969,993 | T/G | — | uncertain significance |
| rs72712862 | 1:160,970,089 | C/T | — | benign |
| rs144532932 | 1:160,970,493 | T/C | — | uncertain significance |
| rs780000546 | 1:160,970,552 | C/T | — | uncertain significance |
| rs200076351 | 1:160,970,861 | A/T | — | uncertain significance |
| rs201500963 | 1:160,970,902 | C/T | — | uncertain significance |
| rs2526123279 | 1:160,971,087 | G/A | — | uncertain significance |
| rs534867431 | 1:160,974,431 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.