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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.
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).
In plain words · 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.
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.
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.
No product in this corpus aims at MBD4 yet. Inhibitors are shaped to fit the enzyme's active site so the reaction the cancer relies on stops.
Germline variant: UniProt lists Tumor predisposition syndrome 2 (TPDS2) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA MBD4: RNA low tissue specificity; high antibody staining in 6 normal tissues; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Leukaemia, Myeloid neoplasms, Skin cancer (all types)); Open Targets associates it with 5 specific cancer types at or above 0.5 (tumor predisposition syndrome 2, uveal melanoma, colorectal cancer, acute myeloid leukemia, classic familial adenomatous polyposis). (Rule 2 of scripts/fetch-target-specificity.ts.)
Sources: UniProt O95243; Human Protein Atlas MBD4 tissue; Open Targets ENSG00000129071 associations
First described 1998. Earliest sequence paper UniProt cites for the protein: Hendrich et al, Mol. Cell. Biol, 1998, "Identification and characterization of a family of mammalian methyl-CpG binding proteins". Source.
Sources: HGNC HGNC:6919 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt O95243 (protein name, function text, keywords and locations (REST API)); CIViC gene MBD4 (1 evidence items, 0 assertions, 1 variants; diseases: Uveal Melanoma (GraphQL API, CC0)); Open Targets ENSG00000129071 (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))
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).
RNA: low tissue specificity, detected in all normal tissues.
Medium: Bone marrow, Breast, Bronchus, Cerebral cortex, Cervix, Colon, Endometrium, Esophagus.
Medium only: breast cancer, carcinoid, cervical cancer, colorectal cancer.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"MBD4" OR ABSTRACT:"MBD4" OR TITLE:"methyl-CpG binding domain 4, DNA glycosylase" OR ABSTRACT:"methyl-CpG binding domain 4, DNA glycosylase" OR TITLE:"Methyl-CpG-binding domain protein 4" OR ABSTRACT:"Methyl-CpG-binding domain protein 4" OR TITLE:"MED1" OR ABSTRACT:"MED1") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about MBD4, not a curated reading list.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC, Acute myeloid leukaemia.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC, Acute myeloid leukaemia.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC, Acute myeloid leukaemia.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Acute myeloid leukaemia, Open Targets Platform.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Acute myeloid leukaemia, Open Targets Platform.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Acute myeloid leukaemia, Open Targets Platform.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Acute myeloid leukaemia, Open Targets Platform.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC, Acute myeloid leukaemia.