# MBD4

Source: https://onco.cc/targets/mbd4/  
OnCo record `mbd4` (Target). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

MBD4 (Methyl-CpG-binding domain protein 4) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Leukaemia, Myeloproliferative neoplasms and 3 more.

## Summary

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.

CIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming PD1 Inhibitor. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.92, genetic association 0.66, genetic literature 0.84).

## Fields

- Kind: Target
- Last checked: 2026-09-23
- Also known as: methyl-CpG binding domain 4, DNA glycosylase; Methyl-CpG-binding domain protein 4; MED1
- Tags: cancer-genes-wave
- Symbol: MBD4
- Class: enzyme
- Biology: 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. Location: Nucleus (UniProt). Locus 3q21.3 (HGNC).
- Where found: Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575); Leukaemia: Open Targets association 0.53 with leukaemia (MONDO_0005059); Myeloproliferative neoplasms: Open Targets association 0.53 with myeloproliferative neoplasm (MONDO_0020076); Melanoma: Open Targets association 0.71 with melanoma (MONDO_0005105); Uveal melanoma: Open Targets association 0.71 with ocular melanoma (MONDO_0006325); CIViC evidence names this disease; Acute myeloid leukaemia: Open Targets association 0.53 with acute myeloid leukaemia (MONDO_0018874)

## Notes

- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt keyword "DNA repair". Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.

## Sources

- HGNC HGNC:6919: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6919
- UniProt O95243: https://www.uniprot.org/uniprotkb/O95243/entry
- NCBI Gene 8930: https://www.ncbi.nlm.nih.gov/gene/8930
- Ensembl ENSG00000129071: https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000129071

## Connected records

- collections: [CIViC](https://onco.cc/collections/civic/), [Open Targets Platform](https://onco.cc/collections/open-targets/)
- cancers: [Acute myeloid leukaemia](https://onco.cc/cancers/aml/), [Colorectal cancer](https://onco.cc/cancers/colorectal/), [Leukaemia (all types)](https://onco.cc/cancers/leukaemia/), [Melanoma](https://onco.cc/cancers/melanoma/), [Myeloproliferative neoplasms (PV, ET, myelofibrosis)](https://onco.cc/cancers/myeloproliferative-neoplasms/), [Uveal melanoma](https://onco.cc/cancers/uveal-melanoma/)

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JSON: https://onco.cc/api/v1/entities/mbd4.json