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

    Gene ID: 8932, updated on 22-Apr-2017
    Official Symbol
    MBD2provided by HGNC
    Official Full Name
    methyl-CpG binding domain protein 2provided by HGNC
    Primary source
    HGNC:HGNC:6917
    See related
    Ensembl:ENSG00000134046 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]
    Orthologs
    Location:
    18q21.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 18 NC_000018.10 (54151601..54224788, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (51677971..51751158, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1919 Neighboring gene long intergenic non-protein coding RNA 1917 Neighboring gene ribosomal protein L29 pseudogene 32 Neighboring gene small nucleolar RNA, H/ACA box 37 Neighboring gene DNA polymerase iota Neighboring gene StAR related lipid transfer domain containing 6

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    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 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 Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp586O0821

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    C2H2 zinc finger domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    methyl-CpG binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    methyl-CpG binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    contributes_to nucleosomal DNA binding IDA
    Inferred from Direct Assay
    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
    ATP-dependent chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    cellular protein complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin silencing at rDNA TAS
    Traceable Author Statement
    more info
     
    embryonic organ development IEA
    Inferred from Electronic Annotation
    more info
     
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    maternal behavior IEA
    Inferred from Electronic Annotation
    more info
     
    methylation-dependent chromatin silencing IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IBA
    Inferred from Biological aspect of Ancestor
    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
     
    positive regulation of chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of DNA methylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient levels IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    heterochromatin IEA
    Inferred from Electronic Annotation
    more info
     
    histone deacetylase complex IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    methyl-CpG-binding domain protein 2
    Names
    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 identical proteins and their annotated locations for 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
      Related
      ENSP00000256429.3, OTTHUMP00000163558, ENST00000256429.7, OTTHUMT00000256003
      Conserved Domains (3) summary
      cd01396
      Location:151214
      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:297387
      MBD_C; C-terminal domain of methyl-CpG binding protein 2 and 3
      pfam16564
      Location:227292
      MBDa; p55-binding region of Methyl-CpG-binding domain proteins MBD
    2. NM_015832.4NP_056647.1  methyl-CpG-binding domain protein 2 testis-specific isoform

      See identical proteins and their annotated locations for 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
      UniProtKB/TrEMBL
      A0A024R2B8
      Related
      ENSP00000464554.1, OTTHUMP00000262240, ENST00000583046.1, OTTHUMT00000447959
      Conserved Domains (1) summary
      cd01396
      Location:151214
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p7 Primary Assembly

      Range
      54151601..54224788 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)
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