Developmental Brain Disorder Gene Database
LoF Variant Gene
HGNC:2978 (protein-coding gene)
DNA methyltransferase 3 alpha
- Unique Cases:
- ID, ASD, SCZ
- Last Updated:
- May 1, 2021
- DBD Genes Classification
- DNMT3A is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
- Gene Function
- Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development (PubMed:12138111, PubMed:16357870, PubMed:30478443). DNA methylation is coordinated with methylation of histones (PubMed:12138111, PubMed:16357870, PubMed:30478443). It modifies DNA in a non-processive manner and also methylates non-CpG sites (PubMed:12138111, PubMed:16357870, PubMed:30478443). May preferentially methylate DNA linker between 2 nucleosomal cores and i... (Source: Uniprot)
- Previous symbols
- No previous symbols
- Alias symbols
- No alias sybmols
- Chromosomal Location
- Genomic Coordinates
- Associated Disorders
- Intellectual Disability, Autism
|Lee CG et. al., First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)., Ann Pediatr Endocrinol Metab, 2019|
|Husson T et. al., Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use., Transl Psychiatry, 2020|
|Yamamoto T et. al., Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders., Brain Dev, 2019|
|Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019|
|Tatton-Brown K et. al., Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability., Nat Genet, 2014|
|Liu Z et. al., Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing., Mol Neurobiol, 2018|
|Tlemsani C et. al., <i>SETD2</i> and <i>DNMT3A</i> screen in the Sotos-like syndrome French cohort., J Med Genet, 2016|
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