MBD5

Chr 2q23.1

methyl-CpG binding domain protein 5

Aliases:: FLJ11113, KIAA1461
MANE:: ENST00000642680.2

OMIM: 611472 ↗NCBI: 55777 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MBD5 · Q9P267

v62025-08-01

Predicted Aligned Error matrix for MBD5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

42.9/ 100

Very low

1,494 residues

Confidence breakdown

Very high(≥ 90)2%
Confident(70–90)9%
Low(50–70)8%
Very low(< 50)81%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

2q23.1 microdeletion syndrome
0.66
hereditary disease
0.53
neurodegenerative disease
0.50
Intellectual disability
0.48
Rare genetic intellectual disability with developmental anomaly
0.46
autism spectrum disorder
0.46
autosomal dominant non-syndromic intellectual disability
0.37
complex neurodevelopmental disorder
0.37
atrial fibrillation
0.32
brain aneurysm
0.29

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

Protein function (UniProt)

Methyl-CpG-binding domain protein 5

Non-catalytic component of the polycomb repressive deubiquitinase (PR-DUB) complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-120' (H2AK119ub1) (PubMed:24634419). Important for stability of PR-DUB components and stimulating its ubiquitinase activity (PubMed:36180891). As part of the PR-DUB complex, associates with chromatin enriched in histone marks H3K4me1, H3K4me3, and H3K27Ac, but not in H3K27me3 (PubMed:36180891). The PR-DUB complex is an epigenetic regulator of gene expression, including genes involved in cell growth and survivability (PubMed:36180891). MBD5 and MBD6 containing complexes associate with distinct chromatin regions enriched in genes involved in different pathways (PubMed:36180891). Heterochromatin recruitment is not mediated by DNA methylation (PubMed:20700456). The PR-DUB complex is an epigenetic regulator of gene expression, including genes involved in development, cell communication, signaling, cell proliferation and cell viability (PubMed:36180891)