TPM4
tropomyosin 4
Summary
This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs373696275 | 19:16,178,493 | A/T | — | uncertain significance |
| rs1280272697 | 19:16,178,538 | A/C | — | uncertain significance |
| rs764800898 | 19:16,178,540 | T/G | — | uncertain significance |
| rs8109288 | 19:16,185,559 | G/A | intron variant | — |
| rs114042568 | 19:16,186,865 | G/A | — | benign |
| rs2512670733 | 19:16,186,946 | G/C | — | uncertain significance |
| rs758930376 | 19:16,186,954 | T/A | — | uncertain significance |
| rs2512682789 | 19:16,192,773 | G/C | — | uncertain significance |
| rs2090489083 | 19:16,192,795 | C/T | — | pathogenic |
| rs763151920 | 19:16,192,796 | G/A | — | uncertain significance |
| rs114391121 | 19:16,197,238 | T/C | — | uncertain significance |
| rs2090552987 | 19:16,197,256 | G/A | — | uncertain significance |
| rs2512689549 | 19:16,197,288 | C/T | — | pathogenic |
| rs768924606 | 19:16,197,336 | C/T | — | uncertain significance |
| rs752488156 | 19:16,198,888 | C/T | — | pathogenic |
| rs538902086 | 19:16,198,889 | G/T | — | uncertain significance |
| rs1229151800 | 19:16,198,892 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.