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. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Function:
Binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binds hemimethylated DNA as well. Recruits histone deacetylases and DNA methyltransferases. Acts as transcriptional repressor and plays a role in gene silencing. Functions as a scaffold protein, targeting GATAD2A and GATAD2B to chromatin to promote repression. May enhance the activation of some unmethylated cAMP-responsive promoters.
Subcellular Location:
Nucleus. Nuclear, in discrete foci. Detected at replication foci in late S phase.
Tissue Specificity:
Highly expressed in brain, heart, kidney, stomach, testis and placenta.
Similarity:
Contains 1 MBD (methyl-CpG-binding) domain.
SWISS:
Q9UBB5
Gene ID:
8932
Database links:
Entrez Gene: 8932 Human
Entrez Gene: 17191 Mouse
Entrez Gene: 136172 Rat
Entrez Gene: 399118 Xenopus laevis
Omim: 603547 Human
SwissProt: Q9UBB5 Human
SwissProt: Q9Z2E1 Mouse
Unigene: 25674 Human
Unigene: 322 Mouse
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