Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



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

TryGeneCards Plus

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

TryGeneCards Plus

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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   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 Chromatin IP Primers for MBD4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

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
Selected PDB 3D structures from and Proteopedia for MBD4 (see all 9):
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: 

  • Ubiquitination2 at Lys484
  • Modification sites at PhosphoSitePlus

  • See MBD4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    MBD4 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MBD4
    GenScript Custom Purified and Recombinant Proteins Services for MBD4
    Novus Biologicals MBD4 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MBD4

    MBD4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for MBD4
    OriGene Antibodies for MBD4
    OriGene Custom Antibody Services for MBD4
    Novus Biologicals MBD4 Antibodies
    Abcam antibodies for MBD4
    Cloud-Clone Corp. Antibodies for MBD4
    ThermoFisher Antibodies for MBD4
    Search LSBio for Antibodies for MBD4

    MBD4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MBD4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MBD4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MBD4
    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

    TryGeneCards Plus
    5 InterPro protein domains:
     IPR011257 DNA_glycosylase
     IPR001739 Methyl_CpG_DNA-bd
     IPR017352 Me_CpG-bd_MBD4
     IPR016177 DNA-bd_dom
     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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    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): Selected molecular function terms (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/body  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: Let us create your new Knockout/Knockin mouse model for MBD4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target MBD4:
    hsa-mir-125b-5p (MIRT046058), hsa-mir-10a-5p (MIRT047640), hsa-mir-96-5p (MIRT027932), hsa-mir-30c-5p (MIRT047844), hsa-mir-205-5p (MIRT003239)

    Block miRNA regulation of human, mouse, rat MBD4 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for MBD4
    Predesigned siRNA for gene silencing in human, mouse, rat MBD4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MBD4

    Clone
    Products:
         
    OriGene clones in human, mouse for MBD4 (see all 6)
    OriGene ORF clones in mouse, rat for MBD4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MBD4 (NM_003925)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MBD4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBD4

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MBD4
    Browse ESI BIO Cell Lines and PureStem Progenitors for MBD4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBD4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    MBD4_HUMAN, O95243: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 5 cellular component terms:    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


    (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).
    About This Section

    TryGeneCards Plus

    SuperPaths for MBD4 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Resolution of Abasic Sites (AP sites)
    Resolution of Abasic Sites (AP sites)0.89
    Base Excision Repair0.00
    Resolution of AP sites via the multiple-nucleotide patch replacement pathway0.89
    Displacement of DNA glycosylase by APE10.00
    Base excision repair0.53
    Resolution of AP sites via the single-nucleotide replacement pathway0.00
    Base-Excision Repair, AP Site Formation0.00
    Removal of DNA patch containing abasic residue0.00
    2Cleavage of the damaged pyrimidine
    Cleavage of the damaged pyrimidine
    Depyrimidination0.00
    Recognition and association of DNA glycosylase with site containing an affected pyrimidine0.00
    3DNA Repair
    DNA Repair0.45
    4Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    3 Reactome Pathways for MBD4
        Recognition and association of DNA glycosylase with site containing an affected pyrimidine
    Displacement of DNA glycosylase by APE1
    Cleavage of the damaged pyrimidine


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


    MBD4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for MBD4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for MBD4 (O952431, 2, 3 ENSP000002499104) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    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): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000737DNA catabolic process, endonucleolytic TAS10097147
    GO:0006281DNA repair TAS--
    GO:0006284base-excision repair TAS--
    GO:0006285base-excision repair, AP site formation TAS--
    GO:0006974cellular response to DNA damage stimulus ----

    MBD4 for ontologies           About GeneDecksing



    (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)
    About This Section

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

    Browse Tocris compounds for MBD4

    Selected 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)



    MBD4 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    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
    Products:
         
    Block miRNA regulation of human, mouse, rat MBD4 using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for MBD4
    Predesigned siRNA for gene silencing in human, mouse, rat MBD4
    Clone
    Products:
         
    OriGene clones in human, mouse for MBD4 (see all 6)
    OriGene ORF clones in mouse, rat for MBD4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MBD4 (NM_003925)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MBD4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBD4
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MBD4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MBD4
      QuantiTect SYBR Green Assays in human, mouse, rat MBD4
      QuantiFast Probe-based Assays in human, mouse, rat MBD4

    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 

    Selected AceView cDNA sequences (see all 233):

    BU619480 BC011752 BM459663 CD105484 AA317013 BP353391 AF114784 AF532602 
    AA713648 AA912158 AA574161 AW341115 CR450305 T11058 AA825707 BE550291 
    AL556619 AI225045 BX952042 BQ101237 CK819454 BF509053 BM015493 BM128829 

    GeneLoc Exon Structure

    Selected 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™, 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)
    About This Section

    TryGeneCards Plus

    MBD4 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    MBD4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MBD4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.35947
        Pathway & Disease-focused RT2 Profiler 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

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for MBD4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MBD4
    QuantiTect SYBR Green Assays in human, mouse, rat MBD4
    QuantiFast Probe-based Assays in human, mouse, rat MBD4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBD4

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for MBD4 gene from Selected 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
    Gallus gallus methyl-CpG binding domain protein 4 ...
    46(a)
    1 ↔ 1
    12(19463171-19466113)
    lizard
    (Anolis carolinensis)
    Reptilia MBD46
    methyl-CpG binding domain protein 4
    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

    TryGeneCards Plus
    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), 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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for MBD4 (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MBD4
    DNA2.0 Custom Variant and Variant Library Synthesis for MBD4

    (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

    TryGeneCards Plus
    OMIM gene information: 603574    OMIM disorders: --

    Selected diseases for MBD4 (see all 42):    
    About MalaCards
    hyperplastic polyposis syndrome    2q23.1 microdeletion syndrome    classic rett syndrome    cutaneous lupus erythematosus
    subacute cutaneous lupus erythematosus    rett syndrome    angelman syndrome    keratitis
    b-cell chronic lymphocytic leukemia    dermatomyositis    lupus erythematosus    purpura
    chronic lymphocytic leukemia    thrombocytopenia    lung cancer susceptibility    graft versus host disease
    esophagitis    esophageal squamous cell carcinoma    nasopharyngitis    colorectal cancer


    MBD4 for disorders           About GeneDecksing

    Selected 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

    TryGeneCards Plus

    PubMed articles for MBD4 gene, integrated from 10 sources (see all 219):
    (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. (Mol. Cell. Biol. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (J. Biol. Chem. 2000)
    4. The Glu346Lys polymorphism and frameshift mutations of the Methyl-CpG Binding Domain 4 gene in gastrointestinal cancer. (PubMed id 19469655)1, 4, 9 Song J.H....Park W.S. (Neoplasma 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. (Oncol. Rep. 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. (Lung Cancer 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. (Mamm. Genome 1999)
    8. Single nucleotide polymorphism in the methyl-CpG binding domain 4 gene and the risk for immune thrombocytopenic purpura in Chinese population. (PubMed id 20100009)1, 4, 9 Zhao H....Yang R. (Platelets 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Am. J. Clin. Nutr. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 8930 HGNC: 6919 AceView: MBD4 Ensembl:ENSG00000129071 euGenes: HUgn8930
    ECgene: MBD4 Kegg: 8930 H-InvDB: MBD4

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for MBD4 (MBD4)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for MBD4   OriGene RNAi products in human, mouse, rat for MBD4  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for MBD4  
     OriGene qSTAR qPCR primer pairs in human, mouse for MBD4   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for MBD4   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MBD4   OriGene Custom Protein Services for MBD4  

     
     
     Block miRNA regulation of human, mouse, rat MBD4 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing MBD4
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MBD4 Predesigned siRNA for gene silencing in human, mouse, rat MBD4
     QuantiFast Probe-based Assays in human, mouse, rat MBD4 QuantiTect SYBR Green Assays in human, mouse, rat MBD4
     PCR Arrays including human, mouse, rat MBD4 Search Chromatin IP Primers for MBD4
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MBD4  GeneGlobe Interaction Network for MBD4
     Regulatory tfbs in MBD4 promoter
     GenScript Custom Purified and Recombinant Proteins Services for MBD4 GenScript cDNA clones with any tag delivered in your preferred vector for MBD4
     GenScript Custom Assay Services for MBD4 GenScript Custom overexpressing Cell Line Services for MBD4
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for MBD4
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     MBD4 antibodies
     MBD4 proteins
     Antibodies for MBD4
     See all of Abcam's Antibodies, Kits and Proteins for MBD4
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for MBD4
     Antibodies for MBD4
     ELISAs for MBD4
     CLIAs for MBD4



     Browse ESI BIO Cell Lines and PureStem Progenitors for MBD4
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBD4
     SwitchGear 3'UTR luciferase reporter plasmids for MBD4
     SwitchGear Promoter luciferase reporter plasmids for MBD4
     ThermoFisher Antibodies for MBD4
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBD4
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MBD4
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MBD4
     Search LSBio for Antibodies for MBD4
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      MBD4 gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4