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MBD2 methyl-CpG binding domain protein 2 [ Homo sapiens (human) ]

Gene ID: 8932, updated on 14-Apr-2014
Official Symbol
MBD2provided by HGNC
Official Full Name
methyl-CpG binding domain protein 2provided by HGNC
Primary source
HGNC:6917
See related
Ensembl:ENSG00000134046; HPRD:04647; MIM:603547; Vega:OTTHUMG00000132705
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DMTase; NY-CO-41
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]
Location :
18q21
Sequence :
Chromosome: 18; NC_000018.10 (54151601..54224788, complement)
See MBD2 in Epigenomics, MapViewer

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724651 Neighboring gene uncharacterized LOC101928167 Neighboring gene ribosomal protein L29 pseudogene 32 Neighboring gene small nucleolar RNA, H/ACA box 37 Neighboring gene polymerase (DNA directed) iota Neighboring gene StAR-related lipid transfer (START) domain containing 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat, p14 tat Methyl-CpG-binding proteins MBD2 and p66alpha are identified to interact with HIV-1 Tat in Jurkat cell PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
C2H2 zinc finger domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
mRNA binding IEA
Inferred from Electronic Annotation
more info
 
methyl-CpG binding IDA
Inferred from Direct Assay
more info
 
methyl-CpG binding NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
satellite DNA binding TAS
Traceable Author Statement
more info
PubMed 
siRNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular protein complex assembly IEA
Inferred from Electronic Annotation
more info
 
maternal behavior IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
heterochromatin IEA
Inferred from Electronic Annotation
more info
 
histone deacetylase complex IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
methyl-CpG-binding domain protein 2
Names
methyl-CpG-binding domain protein 2
demethylase

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029550.1 RefSeqGene

    Range
    5001..78188
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003927.4NP_003918.1  methyl-CpG-binding domain protein 2 isoform 1

    See proteins identical to NP_003918.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC090666, AF072242, AW151547
    Consensus CDS
    CCDS11953.1
    UniProtKB/Swiss-Prot
    Q9UBB5
    Conserved Domains (2) summary
    cd01396
    Location:151214
    Blast Score: 257
    MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...
    pfam14048
    Location:294387
    Blast Score: 397
    MBD_C; C-terminal domain of methyl-CpG binding protein 2 and 3
  2. NM_015832.4NP_056647.1  methyl-CpG-binding domain protein 2 testis-specific isoform

    See proteins identical to NP_056647.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate exon in the 3' coding region, compared to variant 1, resulting in a shorter protein (testis-specific) that has a shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AF072242, AF072246, AW274866
    Consensus CDS
    CCDS45871.1
    UniProtKB/Swiss-Prot
    Q9UBB5
    Related
    ENSP00000464554, OTTHUMP00000262240, ENST00000583046, OTTHUMT00000447959
    Conserved Domains (1) summary
    cd01396
    Location:151214
    Blast Score: 246
    MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38 Primary Assembly

    Range
    54151601..54224788, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000150.1 Alternate HuRef

    Range
    48533225..48606305, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018929.2 Alternate CHM1_1.1

    Range
    51672993..51746130, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

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