TRIM54
tripartite motif containing 54
Summary
The protein encoded by this gene contains a RING finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and RNF29 form heterodimers, which may be important for the regulation of titin kinase and microtubule-dependent signal pathways in striated muscles. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs754426349 | 2:27,505,609 | A/G | — | uncertain significance |
| rs142672168 | 2:27,505,680 | C/T | — | benign |
| rs138433323 | 2:27,505,755 | C/T | — | likely benign |
| rs33994928 | 2:27,505,758 | C/T | — | benign |
| rs191539041 | 2:27,506,652 | G/A | — | — |
| rs139537302 | 2:27,521,167 | A/G | intron variant | — |
| rs774868804 | 2:27,521,532 | G/A | — | uncertain significance |
| rs1169104421 | 2:27,521,567 | G/A | — | uncertain significance |
| rs1678939672 | 2:27,521,578 | T/G | — | uncertain significance |
| rs146448995 | 2:27,522,165 | G/T | — | uncertain significance |
| rs1157165655 | 2:27,522,175 | A/G | — | uncertain significance |
| rs147280617 | 2:27,522,267 | A/G | — | uncertain significance |
| rs1300726576 | 2:27,522,505 | G/T | — | uncertain significance |
| rs62130712 | 2:27,523,089 | G/A | intron variant | — |
| rs142346138 | 2:27,527,292 | A/T | downstream gene variant | — |
| rs35361421 | 2:27,527,850 | G/A | — | benign |
| rs759489918 | 2:27,527,872 | C/T | — | uncertain significance |
| rs149751051 | 2:27,527,875 | G/A | — | uncertain significance |
| rs139128442 | 2:27,527,897 | T/G | — | uncertain significance |
| rs377349174 | 2:27,528,446 | T/G | — | uncertain significance |
| rs368576592 | 2:27,528,551 | C/T | — | uncertain significance |
| rs752760219 | 2:27,528,576 | G/A | — | uncertain significance |
| rs140534371 | 2:27,528,578 | G/A | — | uncertain significance |
| rs753597613 | 2:27,528,584 | G/A | — | uncertain significance |
| rs200868576 | 2:27,528,593 | C/A | — | uncertain significance |
| rs146348166 | 2:27,528,595 | T/C | — | likely benign |
| rs149377217 | 2:27,528,600 | A/G | — | uncertain significance |
| rs4665963 | 2:27,528,692 | T/C | — | benign |
| rs201707391 | 2:27,529,106 | C/G | — | uncertain significance |
| rs150805098 | 2:27,529,113 | G/A | — | uncertain significance |
| rs142922734 | 2:27,529,154 | G/C | — | uncertain significance |
| rs1337492672 | 2:27,529,323 | G/A | — | uncertain significance |
| rs772619318 | 2:27,529,326 | G/A | — | uncertain significance |
| rs761376399 | 2:27,529,357 | A/G | — | uncertain significance |
| rs376877990 | 2:27,529,367 | G/C | — | uncertain significance |
| rs779177924 | 2:27,529,396 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.