AlphaFold predicted structure
MBD4 · O95243
Mean pLDDT
59.6/ 100
Low
580 residues
Confidence breakdown
- Very high(≥ 90)31%
- Confident(70–90)5%
- Low(50–70)7%
- Very low(< 50)57%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
MBD4
Chr 3q21.3methyl-CpG binding domain 4, DNA glycosylase
- Aliases:
- MED1
- MANE:
- ENST00000429544.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
GI tract tumours
BIALLELIC, autosomal or pseudoautosomalHaematological malignancies cancer susceptibility
BIALLELIC, autosomal or pseudoautosomalInherited polyposis and early onset colorectal cancer - germline testing
BIALLELIC, autosomal or pseudoautosomalInherited predisposition to acute myeloid leukaemia (AML)
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
tumor predisposition syndrome 2
0.79uveal melanoma
0.71hereditary disease
0.56colorectal cancer
0.53acute myeloid leukemia
0.53Familial adenomatous polyposis
0.53classic familial adenomatous polyposis
0.53cranioectodermal dysplasia
0.48Inherited cancer-predisposing syndrome
0.27hereditary neoplastic syndrome
0.27
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Methyl-CpG-binding domain protein 4
Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein
Diseases associated with MBD4
Curated MONDO disease pages that list MBD4 among their top associated genes.