DNMT3L
DNA methyltransferase 3 like
Summary
CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases, but is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs376151107 | 21:45,666,383 | G/A | — | uncertain significance |
| rs138788112 | 21:45,666,425 | G/A | — | uncertain significance |
| rs766968732 | 21:45,668,937 | C/T | — | uncertain significance |
| rs755846743 | 21:45,668,939 | C/T | — | likely benign |
| rs779843433 | 21:45,668,940 | G/A | — | uncertain significance |
| rs148066978 | 21:45,668,965 | G/A | — | likely benign |
| rs8129776 | 21:45,669,629 | G/A | regulatory region variant | — |
| rs7354779 | 21:45,670,770 | T/C | missense variant | — |
| rs113593938 | 21:45,670,790 | C/T | missense variant | — |
| rs199797050 | 21:45,670,809 | G/A | — | uncertain significance |
| rs1465116961 | 21:45,670,810 | G/T | — | uncertain significance |
| rs781749118 | 21:45,671,509 | G/C | — | uncertain significance |
| rs375285606 | 21:45,671,515 | G/A | — | uncertain significance |
| rs139101475 | 21:45,673,854 | G/T | downstream gene variant | — |
| rs532994427 | 21:45,674,549 | G/A | — | uncertain significance |
| rs1469939709 | 21:45,675,999 | C/G | — | uncertain significance |
| rs958990963 | 21:45,678,442 | C/A | — | uncertain significance |
| rs146821319 | 21:45,678,449 | C/T | — | uncertain significance |
| rs761829715 | 21:45,678,530 | G/A | — | uncertain significance |
| rs1480295155 | 21:45,678,546 | C/T | — | uncertain significance |
| rs2517860505 | 21:45,678,573 | A/G | — | uncertain significance |
| rs2276248 | 21:45,679,258 | T/C | regulatory region variant | — |
| rs747790493 | 21:45,679,355 | C/G | — | uncertain significance |
| rs142812089 | 21:45,679,389 | T/C | — | uncertain significance |
| rs758691224 | 21:45,680,684 | T/C | — | uncertain significance |
| rs368501877 | 21:45,681,058 | C/T | — | uncertain significance |
| rs776282345 | 21:45,681,138 | G/A | — | uncertain significance |
| rs2070565 | 21:45,681,153 | T/C | splice region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.