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MBD2 Gene

protein-coding   GIFtS: 64
GCID: GC18M051615

Methyl-CpG Binding Domain Protein 2

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Methyl-CpG Binding Domain Protein 21 2     Methyl-CpG-Binding Domain Protein 22
DMTase2 3     Demethylase3
NY-CO-412     Methyl-CpG-Binding Protein MBD23
demethylase2     

External Ids:    HGNC: 69171   Entrez Gene: 89322   Ensembl: ENSG000001340467   OMIM: 6035475   UniProtKB: Q9UBB53   

Export aliases for MBD2 gene to outside databases

Previous GC identifers: GC18M051851 GC18M049932 GC18M049934 GC18M048535


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MBD2 Gene:
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)

GeneCards Summary for MBD2 Gene:
MBD2 (methyl-CpG binding domain protein 2) is a protein-coding gene. GO annotations related to this gene include chromatin binding and mRNA binding. An important paralog of this gene is MBD3L4.

UniProtKB/Swiss-Prot: MBD2_HUMAN, Q9UBB5
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

Gene Wiki entry for MBD2 (Methyl-CpG-binding domain protein 2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the MBD2 gene promoter:
         GATA-3   p53   AP-1   Sp1   Pax-2   Pax-2a   YY1   S8   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMBD2 promoter sequence
   Search Chromatin IP Primers for MBD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MBD2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21   Ensembl cytogenetic band:  18q21.2   HGNC cytogenetic band: 18q21

MBD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBD2 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M051615:  view genomic region     (about GC identifiers)

Start:
51,677,971 bp from pter      End:
51,751,158 bp from pter
Size:
73,188 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MBD2_HUMAN, Q9UBB5 (See protein sequence)
Recommended Name: Methyl-CpG-binding domain protein 2  
Size: 411 amino acids; 43255 Da
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
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 (PubMed:9774669) but cannot however be proven
by supporting cDNA sequences
1 PDB 3D structure from and Proteopedia for MBD2:
2L2L (3D)    
Secondary accessions: O95242 Q9UIS8
Alternative splicing: 2 isoforms:  Q9UBB5-1   Q9UBB5-3   (Incomplete sequence)

Explore the universe of human proteins at neXtProt for MBD2: NX_Q9UBB5

Explore proteomics data for MBD2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MBD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_003918.1  NP_056647.1  

    ENSEMBL proteins: 
     ENSP00000256429   ENSP00000462393   ENSP00000381435   ENSP00000464554  
    Reactome Protein details: Q9UBB5

    MBD2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR025884 MeCpG-bd_2/3_C_dom
     IPR001739 Methyl_CpG_DNA-bd
     IPR016177 DNA-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9UBB5

    ProtoNet protein and cluster: Q9UBB5

    1 Blocks protein domain: IPB001739 Methyl-CpG binding

    UniProtKB/Swiss-Prot: MBD2_HUMAN, Q9UBB5
    Similarity: Contains 1 MBD (methyl-CpG-binding) domain


    Find genes that share domains with MBD2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MBD2_HUMAN, Q9UBB5
    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

         Genatlas biochemistry entry for MBD2:
    methyl-CpG binding protein 2,demethylase,40kDa,binding methylated DNA,histone deacetylase complex,widely
    expressed,underexpressed at the early stage of colorectal and stomach carcinogenesis

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003696satellite DNA binding TAS9774669
    GO:0003729mRNA binding IEA--
    GO:0005515protein binding IPI12183469
         
    Find genes that share ontologies with MBD2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MBD2:
     Increased cell number in G2M,  

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mbd2):
     behavior/neurological  mortality/aging  reproductive system  tumorigenesis 

    Find genes that share phenotypes with MBD2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MBD2

    miRNA
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    miRTarBase miRNAs that target MBD2:
    hsa-mir-375 (MIRT019870)

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    Selected qRT-PCR Assays for microRNAs that regulate MBD2 (see all 170):
    hsa-miR-520f hsa-miR-106a hsa-miR-128 hsa-miR-138-2* hsa-miR-519a hsa-miR-130b hsa-miR-4273 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidMBD2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MBD2_HUMAN, Q9UBB5: Nucleus. Note=Nuclear, in discrete foci. Detected at replication foci in late S phase
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000118histone deacetylase complex IEA--
    GO:0000785chromatin ----
    GO:0000792heterochromatin IEA--
    GO:0005634nucleus NAS10441743
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with MBD2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MBD2 About    
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    RNA Polymerase I Transcription0.78
    RNA Polymerase I Promoter Opening0.78
    RNA Polymerase I Promoter Clearance0.78
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73
    2Gene Expression
    Gene Expression0.40
    3Development NOTCH1 mediated pathway for NF KB activity modulation
    Transcription Sin3 and NuRD in transcription regulation0.35
    4Macrophage Differentiation and Growth Inhibition by METS
    DNA Methylation and Transcriptional Repression0.30
    5Signaling events mediated by HDAC Class I
    Signaling events mediated by HDAC Class I


    Find genes that share SuperPaths with MBD2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for MBD2
        DNA Methylation and Transcriptional Repression

    1 GeneGo (Thomson Reuters) Pathway for MBD2
        Transcription Sin3 and NuRD in transcription regulation

    1 BioSystems Pathway for MBD2
        Signaling events mediated by HDAC Class I

    2 Reactome Pathways for MBD2
        RNA Polymerase I Promoter Opening
    NoRC negatively regulates rRNA expression


        Pathway & Disease-focused RT2 Profiler PCR Arrays including MBD2: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MBD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MBD2 (Q9UBB53 ENSP000002564294) via UniProtKB, MINT, STRING, and/or I2D (see all 87)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000215641P143733I2D: score=1 
    ENSG00000229006P143733I2D: score=1 
    ENSG00000234495P143733I2D: score=1 
    ENSG00000237071P143733I2D: score=1 
    TRIM27P143733I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0030177positive regulation of Wnt signaling pathway IEA--
    GO:0042127regulation of cell proliferation IEA--
    GO:0042711maternal behavior IEA--

    Find genes that share ontologies with MBD2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MBD2

    2 HMDB Compounds for MBD2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    Cytosine4-Amino-2(1H)-pyrimidinone (see all 6)71-30-7--

    Selected Novoseek inferred chemical compound relationships for MBD2 gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-methylcytosine 78.7 2 15380096 (1)
    5-aza-2'deoxycytidine 72.9 4 16537832 (1), 17464181 (1), 19557157 (1)
    5-methylcytosine 67.1 1 15112265 (1)
    lysine 55.5 12 16603238 (2), 17668288 (2), 20005732 (1), 20164337 (1) (see all 7)
    amine 47 1 20101264 (1)
    hpaii 46.1 1 14530963 (1)
    dimethylnitrosamine 45.8 4 9498284 (1), 8900414 (1), 9185616 (1)
    mcpg 45.3 4 12124384 (1), 10050851 (1)
    cytosine 44.4 6 19557157 (2), 11406558 (1), 10050851 (1)
    s-adenosylmethionine 38.3 15 17688412 (2), 12676953 (2), 16982764 (1)



    Find genes that share compounds with MBD2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MBD2 gene (2 alternative transcripts): 
    NM_003927.4  NM_015832.4  

    Unigene Cluster for MBD2:

    Methyl-CpG binding domain protein 2
    Hs.25674  [show with all ESTs]
    Unigene Representative Sequence: NM_003927
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000256429(uc002lfg.2) ENST00000579025 ENST00000578272 ENST00000398398(uc002lfh.2)
    ENST00000583046
    miRNA
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    hsa-miR-520f hsa-miR-106a hsa-miR-128 hsa-miR-138-2* hsa-miR-519a hsa-miR-130b hsa-miR-4273 hsa-miR-92b
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    Additional mRNA sequence: 

    AF039701.1 AF072242.1 AF072246.1 AF072252.1 AL110266.1 BC032638.1 

    9 DOTS entries:

    DT.417161  DT.207769  DT.102830938  DT.75162746  DT.91757680  DT.100787745  DT.100787751  DT.91757685 
    DT.95285248 

    Selected AceView cDNA sequences (see all 231):

    AA932620 AA148635 BU726340 CR592999 CR608921 BG538171 AA428341 BM726114 
    AI055997 AA814881 AA229414 CR592850 AA043427 AA634453 CR615715 BQ018993 
    AA709149 BQ000720 AA599696 AI538314 BU674700 BG402778 AA290863 CR603954 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MBD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTATTTTGA
    MBD2 Expression
    About this image


    MBD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     NULL (Uncategorized)
             CD31, CD144 positive cells
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Oviduct
    MBD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MBD2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.25674

    UniProtKB/Swiss-Prot: MBD2_HUMAN, Q9UBB5
    Tissue specificity: Highly expressed in brain, heart, kidney, stomach, testis and placenta

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MBD2: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBD2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MBD2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mbd21 , 5 methyl-CpG binding domain protein 21, 5 91.32(n)1
    95.62(a)1
      18 (44.54 cM)5
    171911  NM_010773.21  NP_034903.21 
     705681895 
    chicken
    (Gallus gallus)
    Aves MBD21 methyl-CpG binding domain protein 2 69.29(n)
    82.99(a)
      497269  NM_001012403.1  NP_001012403.1 
    lizard
    (Anolis carolinensis)
    Reptilia MBD26
    methyl-CpG binding domain protein 2
    92(a)
    1 ↔ 1
    GL343213.1(26574-98535)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.216152 Xenopus laevis mRNA for methyl-CpG binding protein more 83.15(n)    AB061672.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mbd21 methyl-CpG binding domain protein 2 69.59(n)
    78.88(a)
      337105  NM_212768.1  NP_997933.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta MBD-like1 , 3 methyl-CpG binding3
    MBD-like1
    35(a)3
    52.4(n)1
    49.77(a)1
      85D243
    411511  NM_169293.21  NP_731370.11 
    wheat
    (Triticum aestivum)
    Liliopsida CA633185.12   -- 70.47(n)    CA633185.1 


    ENSEMBL Gene Tree for MBD2 (if available)
    TreeFam Gene Tree for MBD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MBD2 gene
    MBD3L42  MBD3L32  MBD3L12  MBD32  MBD3L52  MBD3L22  
    2 SIMAP similar genes for MBD2 using alignment to 2 protein entries:     MBD2_HUMAN (see all proteins):
    NY-CO-41    MBD3

    Find genes that share paralogs with MBD2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MBD2 (see all 1413)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs113002051,2
    C,F--48548727(+) AAAAA-/A/AA  
            
    CAGAT
    1 -- int12NA 4
    rs669403051,2
    C--48575859(+) AATAT-/CTTAAT 1 -- int10--------
    rs1392869511,2
    --51676598(+) CATATC/TACATG 1 -- ds50010--------
    rs779162391,2
    C,F--51676710(+) GTTTTC/TCCATC 1 -- ds50011Minor allele frequency- T:0.03EA 120
    rs1500116281,2
    --51676829(+) CCTTCA/GAGTCA 1 -- ds50010--------
    rs1451449891,2
    --51676848(+) GACAGC/TCTGCT 1 -- ds50010--------
    rs1412124231,2
    --51676893(+) AATTGC/GGTTGT 1 -- ds50010--------
    rs750968471,2
    C,F--51676941(+) GGACCC/ACACCC 1 -- ds50011Minor allele frequency- A:0.03EA 120
    rs1450227821,2
    --51676948(+) ACCCCA/CCAGTC 1 -- ds50010--------
    rs1468734631,2
    --51677067(+) CATTTC/TCTCAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MBD2 (51677971 - 51751158 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MBD2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv993042CNV Deletion20482838

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MBD2
    DNA2.0 Custom Variant and Variant Library Synthesis for MBD2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603547    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for MBD2:
    Klatskin's tumor

    Find genes that share disorders with MBD2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for MBD2 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 36.9 15 12646234 (3), 14688029 (3), 11710831 (2), 18931530 (1) (see all 7)
    prostate cancer 27.4 17 11870882 (5), 16786000 (2), 12646234 (2), 18048344 (1) (see all 5)
    tumors 17.6 21 18931530 (3), 11965543 (3), 15112265 (2), 17070797 (1) (see all 11)
    breast cancer 15.9 12 12543808 (5), 16322686 (1), 16168120 (1), 11965543 (1)
    bladder carcinoma 10.4 2 15112265 (2)
    leukemia 0 1 15467427 (1)
    cancer lung 0 1 12776203 (1)
    gastric cancer 0 5 15526354 (3), 10544038 (1)
    colon carcinoma 0 1 15823509 (1)
    adenocarcinoma 0 2 11471858 (1), 11710831 (1)

    Genetic Association Database (GAD): MBD2
    Human Genome Epidemiology (HuGE) Navigator: MBD2 (10 documents)

    Export disorders for MBD2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MBD2 gene, integrated from 10 sources (see all 233):
    (articles sorted by number of sources associating them with MBD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic structure and chromosomal mapping of the murine and human mbd1, mbd2, mbd3, and mbd4 genes. (PubMed id 10441743)1, 2, 3, 9 Hendrich B.... Bird A. (Mamm. Genome 1999)
    2. Identification and characterization of a family of mammalian methyl- CpG binding proteins. (PubMed id 9774669)1, 2, 3, 9 Hendrich B. and Bird A. (Mol. Cell. Biol. 1998)
    3. Involvement of a novel zinc finger protein, MIZF, in transcriptional repression by interacting with a methyl-CpG-binding protein, MBD2. (PubMed id 11553631)1, 2, 9 Sekimata M.... Homma Y. (J. Biol. Chem. 2001)
    4. MBD2 is a transcriptional repressor belonging to the MeCP1 histone deacetylase complex. (PubMed id 10471499)1, 2, 9 Ng H.-H.... Bird A. (Nat. Genet. 1999)
    5. MBDin, a novel MBD2-interacting protein, relieves MBD2 repression potential and reactivates transcription from methylated promoters. (PubMed id 12588985)1, 2, 9 Lembo F....Chiariotti L. (Mol. Cell. Biol. 2003)
    6. Two highly related p66 proteins comprise a new family of potent transcriptional repressors interacting with MBD2 and MBD3. (PubMed id 12183469)1, 2, 9 Brackertz M.... Renkawitz R. (J. Biol. Chem. 2002)
    7. p66alpha and p66beta of the Mi-2/NuRD complex mediate MBD2 and histone interaction. (PubMed id 16415179)1, 2, 9 Brackertz M.... Renkawitz R. (Nucleic Acids Res. 2006)
    8. Genotypes and haplotypes of the methyl-CpG-binding domain 2 modify breast cancer risk dependent upon menopausal status. (PubMed id 16168120)1, 4, 9 Zhu Y....Zheng T. (Breast Cancer Res. 2005)
    9. MBD2-MBD3 complex binds to hemi-methylated DNA and forms a complex containing DNMT1 at the replication foci in late S phase. (PubMed id 10947852)1, 2, 9 Tatematsu K.... Ishikawa F. (Genes Cells 2000)
    10. A mammalian protein with specific demethylase activity for mCpG DNA. (PubMed id 10050851)1, 2, 9 Bhattacharya S.K.... Szyf M. (Nature 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8932 HGNC: 6917 AceView: MBD2 Ensembl:ENSG00000134046 euGenes: HUgn8932
    ECgene: MBD2 H-InvDB: MBD2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MBD2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MBD2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MBD2 gene:
    Search GeneIP for patents involving MBD2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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