TOM1L2
target of myb1 like 2 membrane trafficking protein
Summary
This gene belongs to a small gene family whose members have an N-terminal VHS domain followed by a GAT domain; domains which typically participate in vesicular trafficking. The canonical protein encoded by this gene also has a C-terminal clathrin binding motif. This protein has been shown to interact with Tollip, clathrin and ubiquitin and is thought to play a role in endosomal sorting. This gene resides in the 3.7 Mb deletion of chromosome region 17p11.2 that is associated with Smith-Magenis syndrome. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Apr 2017]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200990292 | 17:17,750,954 | G/C | — | uncertain significance |
| rs371456416 | 17:17,750,992 | C/T | — | uncertain significance |
| rs746278350 | 17:17,751,031 | G/A | — | uncertain significance |
| rs761903481 | 17:17,751,047 | C/T | — | likely benign |
| rs2035801112 | 17:17,752,142 | C/T | — | uncertain significance |
| rs926879365 | 17:17,752,145 | G/T | — | uncertain significance |
| rs2543994504 | 17:17,752,149 | C/T | — | uncertain significance |
| rs1214475621 | 17:17,752,170 | C/A | — | uncertain significance |
| rs9893690 | 17:17,753,846 | A/T | intron variant | — |
| rs747813834 | 17:17,764,803 | T/C | — | uncertain significance |
| rs2036558262 | 17:17,764,813 | T/C | — | uncertain significance |
| rs9895335 | 17:17,767,767 | A/G | intron variant | — |
| rs146446650 | 17:17,769,655 | T/C | — | uncertain significance |
| rs369187930 | 17:17,769,679 | C/A | — | uncertain significance |
| rs547369838 | 17:17,772,658 | C/G | — | uncertain significance |
| rs1034038096 | 17:17,772,673 | C/T | — | uncertain significance |
| rs764201570 | 17:17,772,709 | C/T | — | uncertain significance |
| rs537305430 | 17:17,772,723 | T/C | — | uncertain significance |
| rs537115633 | 17:17,774,354 | A/C | — | — |
| rs9908017 | 17:17,774,422 | C/A | — | — |
| rs6502619 | 17:17,779,704 | C/A | — | — |
| rs2037610345 | 17:17,782,971 | C/G | — | uncertain significance |
| rs369984263 | 17:17,783,030 | C/T | — | uncertain significance |
| rs138147144 | 17:17,786,095 | G/A | — | uncertain significance |
| rs756682926 | 17:17,786,096 | G/C | — | uncertain significance |
| rs199563013 | 17:17,786,098 | G/A | — | uncertain significance |
| rs144591677 | 17:17,786,137 | G/A | — | uncertain significance |
| rs765694471 | 17:17,787,986 | C/A | — | uncertain significance |
| rs1012287828 | 17:17,787,992 | T/C | — | uncertain significance |
| rs200120270 | 17:17,788,040 | C/T | — | uncertain significance |
| rs755576657 | 17:17,788,069 | G/T | — | uncertain significance |
| rs779521366 | 17:17,788,070 | C/T | — | uncertain significance |
| rs75865442 | 17:17,797,530 | G/A | intron variant | — |
| rs386352375 | 17:17,801,982 | C/A | — | uncertain significance |
| rs11078403 | 17:17,803,416 | G/A | intron variant | — |
| rs564144962 | 17:17,806,851 | C/T | — | — |
| rs11657845 | 17:17,843,378 | G/T | — | — |
| rs8070624 | 17:17,843,396 | G/C | — | — |
| rs7224815 | 17:17,845,800 | A/C | — | — |
| rs181021970 | 17:17,848,095 | C/T | intron variant | — |
| rs9892963 | 17:17,848,602 | A/T | intron variant | — |
| rs8077530 | 17:17,853,454 | T/A | — | — |
| rs570259347 | 17:17,865,926 | C/T | — | — |
| rs2042142733 | 17:17,875,591 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.