TM4SF4
transmembrane 4 L six family member 4
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 can regulate cell proliferation.[provided by RefSeq, Mar 2011]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs202108567 | 3:149,192,698 | G/A | — | uncertain significance |
| rs1019982533 | 3:149,192,711 | C/T | — | uncertain significance |
| rs773172246 | 3:149,192,735 | C/A | — | uncertain significance |
| rs779335514 | 3:149,192,796 | A/T | — | uncertain significance |
| rs765256644 | 3:149,193,661 | G/A | — | uncertain significance |
| rs755336776 | 3:149,193,677 | A/T | — | uncertain significance |
| rs374767267 | 3:149,193,679 | G/C | — | uncertain significance |
| rs34573045 | 3:149,196,752 | C/G | intron variant | — |
| rs75287519 | 3:149,202,565 | T/A | intron variant | — |
| rs184406490 | 3:149,205,421 | A/G | — | uncertain significance |
| rs2472962634 | 3:149,205,502 | C/T | — | uncertain significance |
| rs553711584 | 3:149,205,538 | G/T | — | uncertain significance |
| rs62272021 | 3:149,205,582 | G/A | regulatory region variant | — |
| rs56390302 | 3:149,208,603 | T/C | upstream gene variant | — |
| rs9843304 | 3:149,211,387 | C/T | regulatory region variant | — |
| rs11926459 | 3:149,212,082 | T/C | regulatory region variant | — |
| rs4681516 | 3:149,212,125 | G/A | — | — |
| rs62269283 | 3:149,212,268 | G/A | regulatory region variant | — |
| rs56303133 | 3:149,212,479 | C/A | coding sequence variant | — |
| rs73152651 | 3:149,214,184 | G/A | — | — |
| rs2472975594 | 3:149,216,549 | G/A | — | likely benign |
| rs371716440 | 3:149,216,559 | A/G | — | uncertain significance |
| rs374118183 | 3:149,216,603 | G/T | — | uncertain significance |
| rs1380820190 | 3:149,216,663 | C/T | — | uncertain significance |
| rs9847773 | 3:149,217,816 | C/T | downstream gene variant | — |
| rs28502438 | 3:149,220,109 | T/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.