MIEF2
mitochondrial elongation factor 2
Summary
This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
Known Variants63 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs948245842 | 17:18,164,454 | G/A | — | uncertain significance |
| rs138865936 | 17:18,165,019 | C/T | regulatory region variant | — |
| rs183547565 | 17:18,165,164 | G/T | upstream gene variant | — |
| rs772064266 | 17:18,166,065 | C/T | — | uncertain significance |
| rs776375102 | 17:18,166,072 | G/T | — | uncertain significance |
| rs141596003 | 17:18,166,074 | G/A | — | uncertain significance |
| rs761124225 | 17:18,166,095 | G/A | — | uncertain significance |
| rs546035006 | 17:18,166,134 | G/A | — | uncertain significance |
| rs773784698 | 17:18,166,415 | A/G | — | uncertain significance |
| rs138313500 | 17:18,166,419 | G/A | — | uncertain significance |
| rs763209079 | 17:18,166,425 | G/A | — | uncertain significance |
| rs1978512657 | 17:18,166,482 | C/T | — | uncertain significance |
| rs1338537976 | 17:18,166,484 | C/T | — | uncertain significance |
| rs1978513963 | 17:18,166,493 | C/T | — | pathogenic |
| rs781751638 | 17:18,166,499 | C/T | — | uncertain significance |
| rs34728538 | 17:18,166,530 | T/C | — | uncertain significance |
| rs1325074283 | 17:18,166,544 | C/T | — | uncertain significance |
| rs143691473 | 17:18,166,548 | C/T | — | uncertain significance |
| rs113412411 | 17:18,166,750 | G/A | — | likely benign |
| rs142766095 | 17:18,167,078 | C/T | — | uncertain significance |
| rs2545574698 | 17:18,167,128 | G/A | — | uncertain significance |
| rs1229191021 | 17:18,167,141 | C/G | — | uncertain significance |
| rs1978567594 | 17:18,167,188 | G/A | — | uncertain significance |
| rs774954964 | 17:18,167,206 | C/T | — | uncertain significance |
| rs147613338 | 17:18,167,207 | G/A | — | uncertain significance |
| rs145857964 | 17:18,167,233 | G/A | — | uncertain significance |
| rs1455276698 | 17:18,167,242 | G/A | — | uncertain significance |
| rs1307071862 | 17:18,167,263 | G/A | — | uncertain significance |
| rs745679119 | 17:18,167,266 | G/A | — | uncertain significance |
| rs760293425 | 17:18,167,277 | G/A | — | likely benign |
| rs753923218 | 17:18,167,308 | C/T | — | uncertain significance |
| rs570365504 | 17:18,167,345 | C/T | — | uncertain significance |
| rs769390003 | 17:18,167,349 | C/T | — | likely benign |
| rs772818705 | 17:18,167,350 | G/A | — | uncertain significance |
| rs202127880 | 17:18,167,400 | G/A | — | likely benign |
| rs747845745 | 17:18,167,416 | C/T | — | uncertain significance |
| rs772916959 | 17:18,167,437 | C/T | — | uncertain significance |
| rs372507546 | 17:18,167,438 | G/A | — | uncertain significance |
| rs760972949 | 17:18,167,448 | C/T | — | likely benign |
| rs376412729 | 17:18,167,467 | C/A | — | uncertain significance |
| rs190023411 | 17:18,167,468 | G/T | — | uncertain significance |
| rs2605143 | 17:18,167,505 | T/C | synonymous variant | — |
| rs141975244 | 17:18,167,528 | G/A | — | uncertain significance |
| rs767580627 | 17:18,167,587 | G/C | — | uncertain significance |
| rs142068813 | 17:18,167,681 | A/C | — | uncertain significance |
| rs756713338 | 17:18,167,697 | C/A | — | uncertain significance |
| rs1978624842 | 17:18,167,735 | G/A | — | uncertain significance |
| rs140019061 | 17:18,167,741 | G/A | — | likely benign |
| rs149985657 | 17:18,167,752 | G/A | — | uncertain significance |
| rs144197706 | 17:18,167,761 | G/A | — | uncertain significance |
| rs375239981 | 17:18,167,767 | A/G | — | uncertain significance |
| rs773059680 | 17:18,167,806 | C/T | — | uncertain significance |
| rs201426079 | 17:18,167,836 | C/T | — | uncertain significance |
| rs527450134 | 17:18,167,864 | G/A | — | likely benign |
| rs777631778 | 17:18,167,870 | G/A | — | uncertain significance |
| rs140156245 | 17:18,167,881 | G/A | — | uncertain significance |
| rs771744645 | 17:18,167,891 | C/T | — | uncertain significance |
| rs150298204 | 17:18,167,897 | A/C | — | likely benign |
| rs376241448 | 17:18,167,899 | G/A | — | uncertain significance |
| rs137904516 | 17:18,167,938 | A/G | — | uncertain significance |
| rs759887808 | 17:18,168,008 | G/A | — | uncertain significance |
| rs768409001 | 17:18,168,064 | G/A | — | uncertain significance |
| rs535171960 | 17:18,168,966 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.