MEF2D
myocyte enhancer factor 2D
Summary
This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs780148974 | 1:156,437,868 | C/T | — | uncertain significance |
| rs150822197 | 1:156,437,880 | G/A | — | uncertain significance |
| rs140205006 | 1:156,437,916 | C/T | — | uncertain significance |
| rs6700679 | 1:156,442,956 | C/G | — | — |
| rs199562852 | 1:156,444,918 | G/A | — | uncertain significance |
| rs2274316 | 1:156,446,242 | C/A | regulatory region variant | — |
| rs1235257855 | 1:156,446,865 | C/A | — | uncertain significance |
| rs867321500 | 1:156,446,898 | G/A | — | uncertain significance |
| rs2525052478 | 1:156,446,938 | T/C | — | uncertain significance |
| rs2525054048 | 1:156,446,968 | A/C | — | uncertain significance |
| rs749838249 | 1:156,446,983 | C/G | — | uncertain significance |
| rs2525111171 | 1:156,449,387 | C/G | — | uncertain significance |
| rs148815967 | 1:156,449,436 | C/G | — | uncertain significance |
| rs3790454 | 1:156,451,349 | T/G | downstream gene variant | — |
| rs1672096301 | 1:156,452,416 | C/T | — | uncertain significance |
| rs2282286 | 1:156,452,870 | G/A | downstream gene variant | — |
| rs2274320 | 1:156,453,247 | T/A | downstream gene variant | — |
| rs3818463 | 1:156,453,441 | C/G | — | — |
| rs189841063 | 1:156,454,395 | A/T | upstream gene variant | — |
| rs3790455 | 1:156,456,301 | C/T | upstream gene variant | — |
| rs3790459 | 1:156,461,707 | A/T | regulatory region variant | — |
| rs10908504 | 1:156,464,429 | C/A | intron variant | — |
| rs1342442 | 1:156,466,699 | G/A | regulatory region variant | — |
| rs557097820 | 1:156,470,485 | G/T | — | — |
| rs1171548 | 1:156,471,998 | G/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.