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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MBD4 Gene

protein-coding   GIFtS: 65
GCID: GC03M129149

Methyl-CpG Binding Domain Protein 4

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Methyl-CpG Binding Domain Protein 41 2     G/5-Fluorouracil Mismatch Glycosylase With Biphasic Kinetics2
MED12 3 5     G/T Mismatch Glycosylase2
Methyl-CpG-Binding Endonuclease 12 3     G/U Mismatch Glycosylase2
Methyl-CpG-Binding Protein MBD42 3     Methyl-CpG-Binding Domain Protein 42
Mismatch-Specific DNA N-Glycosylase2 3     Putative Methyl-CpG Binding Protein2
3,N(4)-Ethenocytosine Glycosylase2     EC 3.2.2.-3

External Ids:    HGNC: 69191   Entrez Gene: 89302   Ensembl: ENSG000001290717   OMIM: 6035745   UniProtKB: O952433   

Export aliases for MBD4 gene to outside databases

Previous GC identifers: GC03M125975 GC03M129786 GC03M130431 GC03M130470 GC03M130632 GC03M126533


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MBD4 Gene:
The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a
methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some
members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the
N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal
mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants
encoding multiple isoforms have been observed for this gene. (provided by RefSeq, Jan 2013)

GeneCards Summary for MBD4 Gene: 
MBD4 (methyl-CpG binding domain protein 4) is a protein-coding gene. Diseases associated with MBD4 include hyperplastic polyposis syndrome, and 2q23.1 microdeletion syndrome, and among its related super-pathways are Removal of DNA patch containing abasic residue and Base-free sugar-phosphate removal via the single-nucleotide replacement pathway. GO annotations related to this gene include endodeoxyribonuclease activity and pyrimidine-specific mismatch base pair DNA N-glycosylase activity. An important paralog of this gene is MECP2.

UniProtKB/Swiss-Prot: MBD4_HUMAN, O95243
Function: Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is
specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or
5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein

Gene Wiki entry for MBD4 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MBD4 gene promoter:
         Pbx1a   AML1a   AP-4   Nkx2-5   C/EBPalpha   GATA-1   Pax-3   deltaCREB   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMBD4 promoter sequence
   Search SABiosciences Chromatin IP Primers for MBD4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MBD4


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

Entrez Gene cytogenetic band: 3q21.3   Ensembl cytogenetic band:  3q21.3   HGNC cytogenetic band: 3q21.3

MBD4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBD4 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M129149:  view genomic region     (about GC identifiers)

Start:
129,149,787 bp from pter      End:
129,158,878 bp from pter
Size:
9,092 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MBD4_HUMAN, O95243 (See protein sequence)
Recommended Name: Methyl-CpG-binding domain protein 4  
Size: 580 amino acids; 66051 Da
Subunit: Interacts with MLH1
Subcellular location: Nucleus
6/8 PDB 3D structures from and Proteopedia for MBD4 (see all 8):
3IHO (3D)        4DK9 (3D)        4E9E (3D)        4E9F (3D)        4E9G (3D)        4E9H (3D)    
Secondary accessions: D3DNC3 D3DNC4 Q2MD36 Q7Z4T3 Q96F09
Alternative splicing: 4 isoforms:  O95243-1   O95243-2   O95243-3   O95243-4   (Possesses uracil DNA glycosylase but not thymine DNA glycosylase activity)

Explore the universe of human proteins at neXtProt for MBD4: NX_O95243

Explore proteomics data for MBD4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95243

  • MBD4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MBD4 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001263199.1  NP_001263200.1  NP_001263201.1  NP_001263202.1  NP_003916.1  

    ENSEMBL proteins: 
     ENSP00000394080   ENSP00000249910   ENSP00000424873   ENSP00000422690   ENSP00000422327  
     ENSP00000376959  
    Reactome Protein details: O95243
    Human Recombinant Protein Products for MBD4: 
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    Novus Biologicals MBD4 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MBD4 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin IEA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--

    MBD4 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for MBD4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR011257 DNA_glycosylase
     IPR001739 Methyl_CpG_DNA-bd
     IPR017352 Me_CpG-bd_MBD4
     IPR016177 DNA-bd_integrase-typ
     IPR003265 HhH-GPD_domain

    Graphical View of Domain Structure for InterPro Entry O95243

    ProtoNet protein and cluster: O95243

    1 Blocks protein domain: IPB001739 Methyl-CpG binding

    UniProtKB/Swiss-Prot: MBD4_HUMAN, O95243
    Similarity: Contains 1 MBD (methyl-CpG-binding) domain


    MBD4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MBD4_HUMAN, O95243
    Function: Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is
    specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or
    5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein

         Genatlas biochemistry entry for MBD4:
    methyl-CpG binding protein 4,widely expressed,mutated in carcinoma with microsatellite instability (colorectal
    carcinoma),encoding an MLH1 interactor

         Enzyme Number (IUBMB): EC 3.2.2.-1

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003696satellite DNA binding TAS9774669
    GO:0003824catalytic activity ----
    GO:0004520endodeoxyribonuclease activity TAS10097147
    GO:0005515protein binding IPI12702765
         
    MBD4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MBD4:
     Synthetic lethal with imatinib 

         12 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Mbd4):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size  homeostasis/metabolism  limbs/digits/tail  mortality/aging  nervous system 
     tumorigenesis  vision/eye 

    MBD4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MBD4: Mbd4tm1Bird Mbd4/Ift122Mbd4/tm1Abc Mbd4tm2Abc Mbd4tm1Wed

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MBD4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MBD4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MBD4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MBD4 

    miRNA
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    miRTarBase miRNAs that target MBD4:
    hsa-mir-205 (MIRT003239)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MBD4
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate MBD4 (see all 15):
    hsa-miR-3671 hsa-miR-301b hsa-miR-519c-3p hsa-miR-301a hsa-miR-519a hsa-miR-3666 hsa-miR-519b-3p hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidMBD4 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBD4


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MBD4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Resolution of Abasic Sites (AP sites)
    Resolution of Abasic Sites (AP sites)0.89
    Removal of DNA patch containing abasic residue0.89
    Resolution of AP sites via the multiple-nucleotide patch replacement pathway0.89
    Base excision repair0.53
    Base Excision Repair0.89
    2Base-Excision Repair, AP Site Formation
    Base-free sugar-phosphate removal via the single-nucleotide replacement pathway0.90
    Recognition and association of DNA glycosylase with site containing an affected pyrimidine0.62
    Displacement of DNA glycosylase by APE10.90
    Cleavage of the damaged pyrimidine 0.62
    Base-Excision Repair, AP Site Formation0.89
    Depyrimidination0.62
    Resolution of AP sites via the single-nucleotide replacement pathway0.83
    3Nucleotide Excision Repair
    DNA Repair0.46
    4Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for MBD4
        DNA Repair Mechanisms

    5/12        Reactome Pathways for MBD4 (see all 12)
        Recognition and association of DNA glycosylase with site containing an affected pyrimidine
    Removal of DNA patch containing abasic residue
    DNA Repair
    Resolution of AP sites via the multiple-nucleotide patch replacement pathway
    Base-Excision Repair, AP Site Formation


    1         Kegg Pathway  (Kegg details for MBD4):
        Base excision repair


    MBD4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MBD4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/23 Interacting proteins for MBD4 (O952431, 2, 3 ENSP000002499104) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2BP678702, 3, ENSP000003650254MINT-62713 MINT-62789 MINT-62615 I2D: score=5 STRING: ENSP00000365025
    ENSG00000224774P678702, 3, ENSP000004156154MINT-62713 MINT-62789 MINT-62615 I2D: score=5 STRING: ENSP00000415615
    ENSG00000232960P678702, 3, ENSP000003955464MINT-62713 MINT-62789 MINT-62615 I2D: score=5 STRING: ENSP00000395546
    ENSG00000206406P678702, 3MINT-62713 MINT-62789 MINT-62615 I2D: score=5 
    ENSG00000224398P678702, 3MINT-62713 MINT-62789 MINT-62615 I2D: score=5 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair TAS--
    GO:0006284base-excision repair TAS--
    GO:0006285base-excision repair, AP site formation TAS--
    GO:0006974response to DNA damage stimulus ----
    GO:0008630intrinsic apoptotic signaling pathway in response to DNA damage IEA--

    MBD4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MBD4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MBD4

    10/13 Novoseek inferred chemical compound relationships for MBD4 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-methylcytosine 77.9 14 11058112 (3), 11056019 (3), 10930409 (2), 11267993 (2) (see all 6)
    thymine 68.5 19 12954776 (2), 10930409 (2), 11267993 (2), 10499592 (1) (see all 11)
    cytosine 68.5 1 12570743 (1)
    3,n(4)-ethenocytosine 66.3 2 11056019 (1), 11267993 (1)
    5-aza-2'deoxycytidine 55.6 2 11309512 (1)
    mononucleotide 50 1 19787250 (1)
    mcpg 47.6 1 15899845 (1)
    guanine 28.2 5 12954776 (1), 10930409 (1), 11056019 (1), 11267993 (1)
    adenine 23.2 1 12954776 (1)
    5fluorouracil 7.32 4 10930409 (1), 11056019 (1), 11267993 (1)

    Search CenterWatch for drugs/clinical trials and news about MBD4

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MBD4 gene (5 alternative transcripts): 
    NM_001276270.1  NM_001276271.1  NM_001276272.1  NM_001276273.1  NM_003925.2  

    Unigene Cluster for MBD4:

    Methyl-CpG binding domain protein 4
    Hs.35947  [show with all ESTs]
    Unigene Representative Sequence: NM_003925
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000429544(uc003emj.1) ENST00000249910(uc003emh.1 uc003emi.1 uc003emk.1)
    ENST00000503197 ENST00000509828 ENST00000507208(uc011bkw.1) ENST00000511009
    ENST00000515266 ENST00000509587 ENST00000505883 ENST00000393278
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidMBD4 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF072250.1 AF114784.1 AF532602.1 AK303013.1 AK312878.1 AM180876.1 BC011752.2 BC034463.1 
    CR450305.1 U56254.1 U56428.1 

    16 DOTS entries:

    DT.101975207  DT.456074  DT.86853317  DT.100779262  DT.100779263  DT.95307194  DT.120893152  DT.120893261 
    DT.120893250  DT.40115829  DT.100779259  DT.100779261  DT.120893204  DT.120893244  DT.120893259  DT.91663644 

    24/233 AceView cDNA sequences (see all 233):

    AA872181 AI225045 AI985866 AI215962 CA420859 CR450305 CA390195 BQ005967 
    AA167415 AA286795 BQ101237 CA487592 NM_003925 CK819454 CA943572 BU153530 
    BM015493 CA773665 BP353391 AI634868 AI521050 AA913721 AI804701 BM459663 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for MBD4 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c · 8d
    SP1:                                -                 -                                               -                                                         
    SP2:                                -                 -                                               -                       -     -                           
    SP3:                                -                 -                 -                             -                                                         
    SP4:                                -                 -     -     -     -                                                                                       
    SP5:                                -     -     -     -     -     -     -     -     -     -     -     -                                                         


    ECgene alternative splicing isoforms for MBD4

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MBD4 expression in normal human tissues (normalized intensities)      MBD4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTGAGATT
    MBD4 Expression
    About this image


    MBD4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/24 selected tissues (see all 24) fully expand
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Globus Pallidus
             Septum   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             b cells   
     
     Breast
             breast ; myoepithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   

    See MBD4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MBD4

    SOURCE GeneReport for Unigene cluster: Hs.35947
        SABiosciences Expression via Pathway-Focused PCR Arrays including MBD4: 
              DNA Damage Signaling Pathway in human mouse rat
              Apoptosis 384HT in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MBD4 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mbd41 , 5 methyl-CpG binding domain protein 41, 5 78.16(n)1
    68.77(a)1
      6 (53.72 cM)5
    171931  NM_010774.21  NP_034904.21 
     1158406975 
    chicken
    (Gallus gallus)
    Aves MBD46
    methyl-CpG binding domain protein 4
    46(a)
    1 ↔ 1
    12(19463171-19466113)
    lizard
    (Anolis carolinensis)
    Reptilia MBD46
    Uncharacterized protein
    39(a)
    1 ↔ 1
    GL343273.1(747733-762741)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.67902 Transcribed sequence with moderate similarity to protein more 74.13(n)    AL777182.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.167652 Transcribed sequence with weak similarity to protein more 72.17(n)    AL921290.1 


    ENSEMBL Gene Tree for MBD4 (if available)
    TreeFam Gene Tree for MBD4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MBD4 gene
    MECP22  
    1 SIMAP similar gene for MBD4 using alignment to 3 protein entries:     MBD4_HUMAN (see all proteins):
    MECP2

    MBD4 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/220 SNPs in MBD4 are shown (see all 220)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs587714281,2
    C--126534414(+) ACAGG-/GCTG  
     AAGCAGG
    ACCCA
    5 -- int1 ds50010--------
    rs1854680051,2
    --126537655(+) TACTTG/TGCAAT 5 -- int10--------
    rs31383491,2
    C,F--126537767(-) AAATAT/ATAAAA 5 -- int12Minor allele frequency- A:0.05NS WA 294
    rs1379239331,2
    --126537770(+) TAATAC/TTTGCC 5 -- int10--------
    rs31383481,2
    H--126537804(-) TTGAGG/TTTTAT 5 -- int15Minor allele frequency- T:0.00NS EA 596
    rs1424000211,2
    --126538000(+) TGTTTC/TCCCAC 5 -- int10--------
    rs1899927791,2
    --126538096(+) AAAAGG/TTCTCC 5 -- int10--------
    rs31383471,2
    H--126538133(-) TTGTCT/CTTATA 5 -- int15Minor allele frequency- C:0.00NS EA 600
    rs31383461,2
    C,F,H--126538148(-) CAGAAC/TTTAGC 5 -- int15Minor allele frequency- T:0.01NS EA 586
    rs1817954671,2
    --126538220(+) ATTTAA/GAGCTC 5 -- int10--------

    HapMap Linkage Disequilibrium report for MBD4 (129149787 - 129158878 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MBD4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2725901CNV Deletion23290073
    nsv877476CNV Gain21882294
    nsv877475CNV Gain21882294
    nsv877477CNV Gain21882294


    Human Gene Mutation Database (HGMD): MBD4
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603574    OMIM disorders: --

    20/38 diseases for MBD4 (see all 38):    About MalaCards
    hyperplastic polyposis syndrome    2q23.1 microdeletion syndrome    cutaneous lupus erythematosus    subacute cutaneous lupus erythematosus
    classic rett syndrome    rett syndrome    esophageal adenocarcinoma    angelman syndrome
    keratitis    b-cell chronic lymphocytic leukemia    dermatomyositis    colon cancer
    thrombocytopenia    purpura    lupus erythematosus    esophageal squamous cell carcinoma
    graft versus host disease    nasopharyngitis    colorectal cancer    chronic lymphocytic leukemia


    MBD4 for disorders           About GeneDecksing

    10/21 Novoseek inferred disease relationships for MBD4 gene (see all 21)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rett syndrome 89.6 21 15377381 (2), 12727440 (1), 15857580 (1), 18287934 (1) (see all 19)
    microsatellite instability 69.3 12 12926109 (2), 19469655 (2), 10097147 (1), 10637515 (1) (see all 7)
    mental retardation 47.9 3 15857580 (1), 19057379 (1), 17383248 (1)
    angelman syndrome 44.7 2 11283202 (1), 15866439 (1)
    somatic mutations 39 1 18206535 (1)
    cancer 35 17 15959563 (2), 11267993 (2), 14633992 (1), 12154402 (1) (see all 12)
    colorectal cancer 30.2 16 19127118 (4), 19469655 (3), 12926109 (2), 18097604 (1)
    encephalopathy 29.7 2 16473305 (1), 12180070 (1)
    colorectal carcinoma 25.9 3 12824891 (1), 11104560 (1), 12702765 (1)
    neurological disorders 24.8 2 17965612 (1), 19427855 (1)

    Genetic Association Database (GAD): MBD4
    Human Genome Epidemiology (HuGE) Navigator: MBD4 (19 documents)

    Export disorders for MBD4 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)
    About This Section

    PubMed articles for MBD4 gene, integrated from 9 sources (see all 218):
    (articles sorted by number of sources associating them with MBD4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a family of mammalian methyl- CpG binding proteins. (PubMed id 9774669)1, 2, 3, 9 Hendrich B. and Bird A. (1998)
    2. MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1. (PubMed id 10097147)1, 2, 3, 9 Bellacosa A.... Neri G. (1999)
    3. Biphasic kinetics of the human DNA repair protein MED1 (MBD4), a mismatch-specific DNA N-glycosylase. (PubMed id 10930409)1, 2, 9 Petronzelli F.... Bellacosa A. (2000)
    4. The Glu346Lys polymorphism and frameshift mutations of the Methyl-CpG Binding Domain 4gene in gastrointestinal cancer. (PubMed id 19469655)1, 4, 9 Song J.H....Park W.S. (2009)
    5. The identification of a novel alternatively spliced form of the MBD4 DNA glycosylase. (PubMed id 17143486)1, 2, 9 Owen R.M.... Nicholl I.D. (2007)
    6. Tagging single nucleotide polymorphisms in MBD4 are associated with risk of lung cancer in a Chinese population. (PubMed id 18495292)1, 4, 9 Miao R....Shen H. (2008)
    7. Genomic structure and chromosomal mapping of the murine and human mbd1, mbd2, mbd3, and mbd4 genes. (PubMed id 10441743)1, 2, 9 Hendrich B.... Bird A. (1999)
    8. Single nucleotide polymorphism in the methyl-CpG bind ing domain 4 gene and the risk for immune thrombocytopenic purpura in Chinese p opulation. (PubMed id 20100009)1, 4, 9 Zhao H....Yang R. (2010)
    9. Fas-associated death domain protein interacts with methyl-CpG binding domain protein 4: a potential link between genome surveillance and apoptosis. (PubMed id 12702765)1, 2, 9 Screaton R.A.... Frisch S.M. (2003)
    10. Polymorphisms in uracil-processing genes, but not one-carbon nutrients, are associated with altered DNA uracil concentrations in an urban Puerto Rican population. (PubMed id 19403629)1, 4, 9 Chanson A....Mason J.B. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8930 HGNC: 6919 AceView: MBD4 Ensembl:ENSG00000129071 euGenes: HUgn8930
    ECgene: MBD4 Kegg: 8930 H-InvDB: MBD4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MBD4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MBD4 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/mbd4/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MBD4 gene:
    Search GeneIP for patents involving MBD4

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



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