DNA methyltransferase 3 alpha
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Diagnostic Grade (Green)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSevere microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCytopenias and congenital anaemias
UnknownInherited phaeochromocytoma and paraganglioma excluding NF1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedacute myeloid leukemia
Tatton-Brown-Rahman overgrowth syndrome
Heyn-Sproul-Jackson syndrome
myelodysplastic syndrome
myeloid leukemia
chronic myelomonocytic leukemia
ebv-positive nodal t- and nk-cell lymphoma
myelodysplastic syndrome with excess blasts
neoplasm
myeloproliferative disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
DNA (cytosine-5)-methyltransferase 3A
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 is inhibited by histone H1 (By similarity). Plays a role in paternal and maternal imprinting (By similarity). Required for methylation of most imprinted loci in germ cells (By similarity). Acts as a transcriptional corepressor for ZBTB18 (By similarity). Recruited to trimethylated 'Lys-36' of histone H3 (H3K36me3) sites (By similarity). Can actively repress transcription through the recruitment of HDAC activity (By similarity). Also has weak auto-methylation activity on Cys-710 in absence of DNA (By similarity)
Curated MONDO disease pages that list DNMT3A among their top associated genes.
DNMT3A · Q9Y6K1
Mean pLDDT
72.9/ 100
Confident
912 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
