Homo sapiens Gene: MBD2
Summary
InnateDB Gene IDBG-3532.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MBD2
Gene Name methyl-CpG binding domain protein 2
Synonyms DMTase; NY-CO-41;
Species Homo sapiens
Ensembl Gene ENSG00000134046
Encoded Proteins
methyl-CpG binding domain protein 2
methyl-CpG binding domain protein 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:54151601-54224788
Strand Reverse strand
Band q21.2
Transcripts
ENST00000256429 ENSP00000256429
ENST00000398398 ENSP00000381435
ENST00000578272 ENSP00000462393
ENST00000579025
ENST00000583046 ENSP00000464554
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 56 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 56 [view]
Protein-Protein 47 [view]
Protein-DNA 9 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003696 satellite DNA binding
GO:0003729 mRNA binding
GO:0005515 protein binding
GO:0008327 methyl-CpG binding
GO:0019904 protein domain specific binding
GO:0031492 nucleosomal DNA binding
GO:0035197 siRNA binding
GO:0070742 C2H2 zinc finger domain binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0030177 positive regulation of Wnt signaling pathway
GO:0042127 regulation of cell proliferation
GO:0042711 maternal behavior
GO:0043044 ATP-dependent chromatin remodeling
GO:0043623 cellular protein complex assembly
GO:0045892 negative regulation of transcription, DNA-templated
Cellular Component
GO:0000118 histone deacetylase complex
GO:0000785 chromatin
GO:0000790 nuclear chromatin
GO:0000792 heterochromatin
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
RNA Polymerase I Transcription pathway
Epigenetic regulation of gene expression pathway
RNA Polymerase I Promoter Clearance pathway
NoRC negatively regulates rRNA expression pathway
RNA Polymerase I Promoter Opening pathway
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription pathway
Gene Expression pathway
Negative epigenetic regulation of rRNA expression pathway
KEGG
INOH
PID BIOCARTA
Mechanisms of transcriptional repression by dna methylation [Biocarta view]
PID NCI
Signaling events mediated by HDAC Class I
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.25674 Hs.606026 Hs.713852
RefSeq NM_003927 NM_015832
HUGO
OMIM
CCDS CCDS11953 CCDS45871
HPRD 04647
IMGT
EMBL
GenPept
RNA Seq Atlas