DNMT3B

Chr 20q11.21

DNA methyltransferase 3 beta

MANE:: ENST00000328111.6

OMIM: 602900 ↗NCBI: 1789 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

DNMT3B · Q9UBC3

v62025-08-01

Predicted Aligned Error matrix for DNMT3B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.6/ 100

Confident

853 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)18%
Low(50–70)2%
Very low(< 50)32%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Clefting
BIALLELIC, autosomal or pseudoautosomal
Familial Hirschsprung Disease
Unknown

Disease associations (Open Targets)

immunodeficiency-centromeric instability-facial anomalies syndrome 1
0.83
ICF syndrome
0.69
facioscapulohumeral muscular dystrophy 4, digenic
0.65
immunodeficiency-centromeric instability-facial anomalies syndrome
0.64
neurodegenerative disease
0.52
hair color
0.40
breast carcinoma
0.40
prostate carcinoma
0.40
cancer
0.39
melanoma
0.38

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

DNA (cytosine-5)-methyltransferase 3B

Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Functions as a transcriptional corepressor by associating with ZHX1. Required for DUX4 silencing in somatic cells (PubMed:27153398)