Aliases for MBD2 Gene
External Ids for MBD2 Gene
Previous GeneCards Identifiers for MBD2 Gene
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]
GeneCards Summary for MBD2 Gene
MBD2 (Methyl-CpG Binding Domain Protein 2) is a Protein Coding gene. Diseases associated with MBD2 include Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant and Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Gene Expression. Gene Ontology (GO) annotations related to this gene include chromatin binding and protein domain specific binding. An important paralog of this gene is MBD3.
UniProtKB/Swiss-Prot Summary for MBD2 Gene
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.