TSPAN8
tetraspanin 8
Summary
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144070931 | 12:71,519,125 | C/T | — | uncertain significance |
| rs11178636 | 12:71,519,173 | G/A | — | benign |
| rs10879261 | 12:71,520,761 | T/C | — | — |
| rs1796330 | 12:71,522,953 | G/C | intron variant | — |
| rs2499214736 | 12:71,523,163 | G/T | — | uncertain significance |
| rs11178645 | 12:71,523,634 | T/C | — | — |
| rs3851611 | 12:71,524,042 | C/G | intron variant | — |
| rs187378419 | 12:71,526,513 | C/G | — | uncertain significance |
| rs869025229 | 12:71,526,521 | A/T | — | uncertain significance |
| rs753825850 | 12:71,526,592 | C/T | — | uncertain significance |
| rs774511407 | 12:71,531,757 | T/G | — | uncertain significance |
| rs371705117 | 12:71,531,831 | T/C | — | uncertain significance |
| rs952846313 | 12:71,532,003 | A/G | — | uncertain significance |
| rs11178649 | 12:71,533,238 | G/A | — | — |
| rs117090819 | 12:71,533,494 | C/T | — | benign |
| rs145284500 | 12:71,533,507 | C/T | — | uncertain significance |
| rs368953718 | 12:71,533,526 | C/T | — | uncertain significance |
| rs3763978 | 12:71,533,534 | C/G | missense variant | — |
| rs118147203 | 12:71,533,581 | G/A | — | benign |
| rs76495455 | 12:71,533,592 | C/T | — | benign |
| rs187854351 | 12:71,537,869 | T/G | intron variant | — |
| rs17849952 | 12:71,537,951 | T/C | — | benign |
| rs2499240682 | 12:71,537,958 | C/A | — | uncertain significance |
| rs2499240701 | 12:71,537,963 | T/C | — | uncertain significance |
| rs186335378 | 12:71,542,597 | C/T | intron variant | — |
| rs1705236 | 12:71,545,558 | T/A | intron variant | — |
| rs1393017968 | 12:71,551,449 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.