MTMR3
myotubularin related protein 3
Summary
This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants75 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2349228 | 22:30,285,039 | G/C | — | — |
| rs9614099 | 22:30,288,338 | A/T | intron variant | — |
| rs2189802 | 22:30,294,173 | A/C | — | — |
| rs73396827 | 22:30,302,112 | C/G | — | — |
| rs5763593 | 22:30,302,238 | T/C | — | — |
| rs111490516 | 22:30,302,923 | C/T | intron variant | — |
| rs1544432 | 22:30,308,180 | T/A | — | — |
| rs36599 | 22:30,337,049 | C/T | upstream gene variant | — |
| rs36600 | 22:30,337,586 | T/C | regulatory region variant | — |
| rs78744703 | 22:30,338,326 | T/C | upstream gene variant | — |
| rs76113237 | 22:30,348,035 | G/T | — | — |
| rs6006310 | 22:30,348,399 | G/T | — | — |
| rs28522206 | 22:30,356,557 | A/G | intron variant | — |
| rs146335913 | 22:30,364,294 | T/G | intron variant | — |
| rs749127663 | 22:30,374,976 | G/A | — | uncertain significance |
| rs766503182 | 22:30,375,001 | A/G | — | uncertain significance |
| rs143751991 | 22:30,375,036 | G/C | — | uncertain significance |
| rs5763662 | 22:30,378,703 | C/T | intron variant | — |
| rs755138094 | 22:30,387,548 | G/C | — | uncertain significance |
| rs2007458 | 22:30,388,706 | A/G | regulatory region variant | — |
| rs2517734405 | 22:30,403,196 | G/T | — | uncertain significance |
| rs145026900 | 22:30,403,222 | A/G | — | uncertain significance |
| rs770933269 | 22:30,403,228 | G/T | — | uncertain significance |
| rs537954673 | 22:30,403,231 | C/T | — | uncertain significance |
| rs2517734532 | 22:30,403,256 | G/T | — | uncertain significance |
| rs138787389 | 22:30,403,279 | A/G | — | uncertain significance |
| rs1378139559 | 22:30,403,304 | G/T | — | uncertain significance |
| rs146523702 | 22:30,403,307 | C/T | — | likely benign |
| rs746536544 | 22:30,403,938 | C/T | — | uncertain significance |
| rs77189465 | 22:30,403,941 | A/G | — | uncertain significance |
| rs760730522 | 22:30,409,517 | A/G | — | uncertain significance |
| rs13055998 | 22:30,412,220 | A/G | regulatory region variant | — |
| rs115318940 | 22:30,412,523 | C/T | — | likely benign |
| rs536968406 | 22:30,412,635 | G/A | — | uncertain significance |
| rs770843170 | 22:30,413,988 | A/G | — | uncertain significance |
| rs375780151 | 22:30,415,531 | C/T | — | uncertain significance |
| rs761298564 | 22:30,415,571 | G/T | — | uncertain significance |
| rs138823197 | 22:30,415,581 | C/T | — | uncertain significance |
| rs747238493 | 22:30,415,584 | C/T | — | uncertain significance |
| rs371788373 | 22:30,415,695 | G/A | — | uncertain significance |
| rs2517777341 | 22:30,415,737 | A/G | — | uncertain significance |
| rs555413140 | 22:30,415,782 | A/G | — | uncertain significance |
| rs142760168 | 22:30,415,812 | C/G | — | uncertain significance |
| rs1289433223 | 22:30,415,872 | G/T | — | uncertain significance |
| rs2517777792 | 22:30,415,888 | A/G | — | uncertain significance |
| rs139080545 | 22:30,415,929 | T/C | — | uncertain significance |
| rs199564678 | 22:30,415,959 | G/A | — | uncertain significance |
| rs144458612 | 22:30,416,038 | G/A | — | likely benign |
| rs752056913 | 22:30,416,094 | G/A | — | uncertain significance |
| rs2517778693 | 22:30,416,156 | G/C | — | uncertain significance |
| rs1284886306 | 22:30,416,204 | T/G | — | uncertain significance |
| rs951386459 | 22:30,416,207 | G/C | — | uncertain significance |
| rs777741244 | 22:30,416,239 | A/T | — | uncertain significance |
| rs1387457938 | 22:30,416,253 | G/T | — | uncertain significance |
| rs766840971 | 22:30,416,311 | G/A | — | uncertain significance |
| rs149113635 | 22:30,416,434 | A/G | — | uncertain significance |
| rs1392962813 | 22:30,416,442 | C/T | — | uncertain significance |
| rs2517779753 | 22:30,416,511 | A/C | — | uncertain significance |
| rs746299225 | 22:30,416,512 | A/G | — | uncertain significance |
| rs368181160 | 22:30,416,562 | C/T | — | uncertain significance |
| rs371597983 | 22:30,416,587 | G/C | — | uncertain significance |
| rs2517779980 | 22:30,416,593 | C/T | — | uncertain significance |
| rs1439011930 | 22:30,416,616 | C/G | — | uncertain significance |
| rs773961910 | 22:30,416,633 | T/G | — | uncertain significance |
| rs767709355 | 22:30,416,682 | C/T | — | uncertain significance |
| rs139441560 | 22:30,416,725 | C/T | — | uncertain significance |
| rs759430144 | 22:30,416,737 | G/A | — | uncertain significance |
| rs750564700 | 22:30,416,773 | T/C | — | uncertain significance |
| rs770329553 | 22:30,416,844 | C/A | — | uncertain significance |
| rs2067773748 | 22:30,418,114 | A/G | — | uncertain significance |
| rs201457757 | 22:30,418,123 | A/G | — | uncertain significance |
| rs769082580 | 22:30,418,646 | G/A | — | uncertain significance |
| rs2517800470 | 22:30,421,708 | A/C | — | uncertain significance |
| rs145809680 | 22:30,421,732 | C/G | — | uncertain significance |
| rs12537 | 22:30,423,460 | C/T | regulatory region variant | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.