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Symbol MBD4 contributors: mct - updated : 15-09-2012
HGNC name methyl-CpG binding domain protein 4
HGNC id 6919
Location 3q21.3      Physical location : 129.149.792 - 129.158.852
Synonym name
  • 3,N(4)-ethenocytosine glycosylase
  • G/5-fluorouracil mismatch glycosylase with biphasic kinetics
  • G/T mismatch glycosylase
  • G/U mismatch glycosylase
  • Synonym symbol(s) MED1
    TYPE functioning gene
    STRUCTURE 9.06 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    LOC166348 3q21.3 similar to RIKEN cDNA 4833415F11 SEC61A1 3q21.3 similar to RIKEN cDNA 4833415F11 RUVBL1 3q21 RuvB-like 1 (E. coli) SELB 3q21.3 elongation factor for selenoprotein translation LOC389146 3 LOC389146 DNAJB8 3q21.3 DnaJ (Hsp40) homolog, subfamily B, member 8 GATA2 3q21 GATA binding protein 2 LOC391572 3 similar to Transmembrane protein Tmp21 precursor (21 kDa Transmembrane trafficking protein) (p24delta) (S31III125) (S31I125) (Tmp-21-I) GR6 3q21 similar to Transmembrane protein Tmp21 precursor (21 kDa Transmembrane trafficking protein) (p24delta) (S31III125) (S31I125) (Tmp-21-I) FLJ40473 3q21.3 hypothetical protein FLJ40473 RPN1 3q21.3-q25.2 ribophorin I RAB7 3q21 RAB7, member RAS oncogene family LOC391573 3 similar to mKIAA1860 protein LOC391574 3 similar to MAP/microtubule affinity-regulating kinase 4; MAP/microtubule affinity-regulating kinase 4L; MARK4 serine/threonine protein kinase LOC389147 3 similar to WD repeat domain 10 isoform 3 LOC391575 3 similar to Fat-specific protein FSP27 homolog ACAD9 3q21.3 acyl-Coenzyme A dehydrogenase family, member 9 KIAA1257 3q21.3 KIAA1257 protein FLJ12057 3q21.3 hypothetical protein FLJ12057 GP9 3q21 glycoprotein IX (platelet) LOC339122 KIAA1160 3q21.3 KIAA1160 protein ZNF9 3p13.3-q24 zinc finger protein 9 (a cellular retroviral nucleic acid binding protein) COPG 3q21.3 coatomer protein complex, subunit gamma DC12 3q21.3 DC12 protein H1FX 3q21.3 H1 histone family, member X LOC90288 3q21.3 hypothetical protein LOC90288 MBD4 3q21-q22 methyl-CpG binding domain protein 4 WDR10 3q21 WD repeat domain 10 RHO 3q21.3-q24 rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant) H1FOO 3q21.3 H1 histone family, member O, oocyte-specific PLXND1 3q21.3 plexin D1 KIAA0779 3q21.3 plexin D1 TRH 3q13.3-q21 thyrotropin-releasing hormone LOC391576 3 hypothetical gene supported by AK122996 LOC285407 3q21.3 similar to mannosyltransferase LOC339944 3q21.3 similar to hypothetical protein FLJ10661 LOC389148 3 LOC389148 FLJ35880 3q22.1 hypothetical protein FLJ35880 LOC131873 3q22.1 hypothetical protein LOC131873 PIK3R4 3q22.1 phosphoinositide-3-kinase, regulatory subunit 4, p150 GSTO3P1 3q22.1 glutathione S-transferase omega 3 pseudogene 1 ATP2C1 3q21 ATPase, Ca++ transporting, type 2C, member 1
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2470 - 580 - -
    Type ubiquitous
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Endocrinepancreas   highly
    Lymphoid/Immunethymus   highly
    cell lineage
    cell lines
    at STAGE
  • a N-proximal methyl-CpG binding domain (MBD)
  • a C-terminal mismatch-specific glycosylase domain, which is an important molecule believed to be involved in maintaining of genome stability
    FAMILY DNA glycosylase superfamily
    CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • encoding an MLH1 interactor
  • acting as a tumor suppressor involved in genetic stability and participating in DNA damage checkpoint
  • important roles in maintaining genome stability through base excision repair (BER) processes and mismatch repair (MMR) processes
  • wide role for MBD4 in DNA damage response and maintaining chromosomal stability
  • efficiently processed T/G mismatches within the nucleosome
  • excises thymine from mutagenic GT mispairs generated by deamination of 5-methylcytosine, and downstream base excision repair proteins restore a GC pair
  • provides selective interactions with the mismatched guanine (N1H, N2H(2)) that are not compatible with adenine, which likely confer mismatch specificity
  • is upregulated at the protein level upon oxidative stress, and is essential for cell survival following oxidative stress
  • CELLULAR PROCESS nucleotide, transcription, regulation
    a component
    small molecule
  • DNA methyl-CpG binding
  • interact with RET through its transcriptional repression domain
  • MBD4 (AAs 413454) represses hypermethylated MLH1 promoters, because of its interaction with the MLHL1
  • MBD4 is required for TGFB1-dependent DNA demethylation
  • interaction between DNMT1 and MBD4 is involved in controlling gene expression and responding to oxidative stress
  • cell & other
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    decreased expression of MBD2 and MBD4 might involve in the pathogenesis of primary immune thrombocytopenia
    constitutional     --over  
    of the MBD2 and MBD4 genes in CD4+ T cells from systemic lupus erythematosus patients
    Susceptibility to rheumatoid arthritis
    Variant & Polymorphism SNP
  • MBD4-8666 and MBD4-922 are associated to RA
  • Candidate gene
    Therapy target