TSPAN6
tetraspanin 6
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. The protein encoded by this gene is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2 protein. It functions as a negative regulator of retinoic acid-inducible gene I-like receptor-mediated immune signaling via its interaction with the mitochondrial antiviral signaling-centered signalosome. This gene uses alternative polyadenylation sites, and multiple transcript variants result from alternative splicing. [provided by RefSeq, Jul 2013]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs767197012 | X:99,885,845 | C/T | — | uncertain significance |
| rs76568447 | X:99,888,477 | T/C | — | likely benign |
| rs777571204 | X:99,888,515 | C/T | — | likely benign |
| rs2520281802 | X:99,888,965 | T/A | — | uncertain significance |
| rs189159745 | X:99,888,982 | C/T | — | benign |
| rs1802288 | X:99,890,204 | C/T | missense variant | — |
| rs141301339 | X:99,890,226 | A/G | — | likely benign |
| rs145821935 | X:99,890,572 | C/T | — | likely benign |
| rs767429263 | X:99,890,644 | C/G | — | uncertain significance |
| rs752076056 | X:99,891,663 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.