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Methyl-CpG binding domain protein 4
Protein MBD4 PDB 1ngn.png
PDB rendering based on 1ngn.
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols MBD4 ; MED1
External IDs OMIM603574 MGI1333850 HomoloGene2916 GeneCards: MBD4 Gene
RNA expression pattern
PBB GE MBD4 214047 s at tn.png
PBB GE MBD4 209579 s at tn.png
PBB GE MBD4 209580 s at tn.png
More reference expression data
Species Human Mouse
Entrez 8930 17193
Ensembl ENSG00000129071 ENSMUSG00000030322
UniProt O95243 Q9Z2D7
RefSeq (mRNA) NM_001276270 NM_010774
RefSeq (protein) NP_001263199 NP_034904
Location (UCSC) Chr 3:
129.15 – 129.16 Mb
Chr 6:
115.84 – 115.85 Mb
PubMed search [1] [2]

Methyl-CpG-binding domain protein 4 is a protein that in humans is encoded by the MBD4 gene.[1][2][3]


DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MBD4 may function to mediate the biological consequences of the methylation signal. In addition, MBD4 has protein sequence similarity to bacterial DNA repair enzymes and thus may have some function in DNA repair. Further, MBD4 gene mutations are detected in tumors with primary microsatellite-instability (MSI), a form of genomic instability associated with defective DNA mismatch repair, and MBD4 gene meets 4 of 5 criteria of a bona fide MIS target gene.[3]


MBD4 has been shown to interact with MLH1[2] and FADD.[4]

Further reading[edit]

  1. ^ Hendrich B, Bird A (Nov 1998). "Identification and Characterization of a Family of Mammalian Methyl-CpG Binding Proteins". Mol Cell Biol 18 (11): 6538–47. PMC 109239. PMID 9774669. 
  2. ^ a b Bellacosa A, Cicchillitti L, Schepis F, Riccio A, Yeung AT, Matsumoto Y et al. (May 1999). "MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1". Proc Natl Acad Sci U S A 96 (7): 3969–74. doi:10.1073/pnas.96.7.3969. PMC 22404. PMID 10097147. 
  3. ^ a b "Entrez Gene: MBD4 methyl-CpG binding domain protein 4". 
  4. ^ Screaton RA, Kiessling S, Sansom OJ, Millar CB, Maddison K, Bird A et al. (Apr 2003). "Fas-associated death domain protein interacts with methyl-CpG binding domain protein 4: A potential link between genome surveillance and apoptosis". Proc. Natl. Acad. Sci. U.S.A. 100 (9): 5211–6. doi:10.1073/pnas.0431215100. PMC 154324. PMID 12702765.