{"entity":{"id":"mbd4","kind":"target","name":"MBD4","aka":["methyl-CpG binding domain 4, DNA glycosylase","Methyl-CpG-binding domain protein 4","MED1"],"tldr":"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.\n\nCIViC 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).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6919","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6919"},{"label":"UniProt O95243","url":"https://www.uniprot.org/uniprotkb/O95243/entry"},{"label":"NCBI Gene 8930","url":"https://www.ncbi.nlm.nih.gov/gene/8930"},{"label":"Ensembl ENSG00000129071","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000129071"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["colorectal","leukaemia","myeloproliferative-neoplasms","melanoma","uveal-melanoma","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"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."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MBD4","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6919","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6919","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95243","url":"https://www.uniprot.org/uniprotkb/O95243/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MBD4","url":"https://civicdb.org/features/7084","note":"1 evidence items, 0 assertions, 1 variants; diseases: Uveal Melanoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000129071","url":"https://platform.opentargets.org/target/ENSG00000129071/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.55, melanoma 0.71, acute myeloid leukaemia 0.53, myeloproliferative neoplasm 0.53, ocular melanoma 0.71, leukaemia 0.53 (GraphQL API, CC0)"}],"hgnc":"HGNC:6919","ensembl":"ENSG00000129071","uniprot":"O95243","entrez":"8930","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).","whereFound":["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)"],"targetClass":"enzyme","prevalence":[]},"route":"/targets/mbd4/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"myeloproliferative-neoplasms","kind":"cancer","name":"Myeloproliferative neoplasms (PV, ET, myelofibrosis)","route":"/cancers/myeloproliferative-neoplasms/"},{"id":"uveal-melanoma","kind":"cancer","name":"Uveal melanoma","route":"/cancers/uveal-melanoma/"}]}}