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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for MBD4 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID8930
Official gene symbolMBD4
Full namemethyl-CpG binding domain protein 4
Aliases,MED1,
Gene summaryDNA 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. [provided by RefSeq]
LocationChromosome: 3   Locus: 3q21-q22
Gene position129158852 - 129149793  Map Viewer
Gene orientationminus
Gene size9060 bp
Gene sequence
OMIM ID603574