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FLASH GENE
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
    DNA
    TYPE functioning gene
    STRUCTURE 9.06 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2470 - 580 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Endocrinepancreas   highly
    Lymphoid/Immunethymus   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 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
  • HOMOLOGY
    Homologene
    FAMILY DNA glycosylase superfamily
    CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    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
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • 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
    REGULATION
    ASSOCIATED DISORDERS
    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
    Marker
    Therapy target
    ANIMAL & CELL MODELS