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MGP003751

UniProt Annotations

Entry Information

Gene Name	methyl-CpG binding domain protein 2
Protein Entry	MBD2_HUMAN
UniProt ID	Q9UBB5
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=MBD2a, MBD2b; IsoId=Q9UBB5-1; Sequence=Displayed; Name=3; IsoId=Q9UBB5-3; Sequence=VSP_011077, VSP_011078; Note=Incomplete sequence.;
Caution	Functional studies (PubMed:10050851, PubMed:10950960 and PubMed:12665568) have used a C-terminal fragment of isoform 1 which has been described originally as isoform MBD2b but cannot however be proven by supporting cDNA sequences. {ECO:0000305\|PubMed:9774669}.
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. {ECO:0000269\|PubMed:10471499, ECO:0000269\|PubMed:10947852, ECO:0000269\|PubMed:12665568, ECO:0000269\|PubMed:16415179, ECO:0000269\|PubMed:24307175, ECO:0000269\|PubMed:9774669}.
Similarity	Contains 1 MBD (methyl-CpG-binding) domain. {ECO:0000255\|PROSITE-ProRule:PRU00338}.
Subcellular Location	Nucleus {ECO:0000269\|PubMed:12183469, ECO:0000269\|PubMed:9774669}. Note=Nuclear, in discrete foci. Detected at replication foci in late S phase.
Subunit	Heterodimer with MBD3. Component of the MeCP1 complex that contains HDAC1 and HDAC2. Binds DNMT1, MIZF, GPN1, SIN3A, GATAD2A/p66-alpha and GATAD2B/p66-beta. Interacts with DHX9. {ECO:0000269\|PubMed:10471499, ECO:0000269\|PubMed:10947852, ECO:0000269\|PubMed:10950960, ECO:0000269\|PubMed:11102443, ECO:0000269\|PubMed:11553631, ECO:0000269\|PubMed:12183469, ECO:0000269\|PubMed:12588985, ECO:0000269\|PubMed:12665568, ECO:0000269\|PubMed:16415179, ECO:0000269\|PubMed:21490301}.
Tissue Specificity	Highly expressed in brain, heart, kidney, stomach, testis and placenta. {ECO:0000269\|PubMed:10050851}.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MBD2ID41309ch18q21.html";