DISEASES

Disease-gene associations mined from literature

Literature associating MBD2 and tetralogy of Fallot

MBD2 [ENSP00000256429]

Methyl-CpG-binding domain protein 2; 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; Methyl-CpG binding domain containing

Synonyms:  MBD2,  MBD2p,  hMBD2,  A0A024R2B8,  DKFZP586O0821 ...

Linkouts:  STRING  Pharos  UniProt  OMIM