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MBD5 Gene

protein-coding   GIFtS: 50
GCID: GC02P148778

Methyl-CpG Binding Domain Protein 5

  See MBD5-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Methyl-CpG Binding Domain Protein 51 2
Methyl-CpG-Binding Protein MBD52 3
MRD12 5
KIAA14613 5
Methyl-CpG-Binding Domain Protein 52

External Ids:    HGNC: 204441   Entrez Gene: 557772   Ensembl: ENSG000002044067   OMIM: 6114725   UniProtKB: Q9P2673   
ORGUL members:         

Export aliases for MBD5 gene to outside databases

Previous GC identifers: GC02P147594 GC02P149238 GC02P149426 GC02P149049 GC02P148932 GC02P148495 GC02P140776


(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 MBD5 Gene:
This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues
and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In
addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of
100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and
differentiation. Mutations in this gene cause mental retardation autosomal dominant type 1. Haploinsufficiency of
this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech
impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature
is not determined. (provided by RefSeq, Mar 2010)

GeneCards Summary for MBD5 Gene:
MBD5 (methyl-CpG binding domain protein 5) is a protein-coding gene. Diseases associated with MBD5 include 2q23.1 microdeletion syndrome, and mental retardation, autosomal dominant 10. GO annotations related to this gene include chromatin binding. An important paralog of this gene is MBD6.

UniProtKB/Swiss-Prot: MBD5_HUMAN, Q9P267
Function: Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro)




(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_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MBD5 gene promoter:
         TBP   HFH-3   HSF1 (long)   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   Nkx2-5   POU3F2   FOXI1   FOXO4   HSF1short   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMBD5 promoter sequence
   Search Chromatin IP Primers for MBD5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MBD5


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

Entrez Gene cytogenetic band: 2q23.1   Ensembl cytogenetic band:  2q23.1   HGNC cytogenetic band: 2q23.2

MBD5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBD5 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P148778:  view genomic region     (about GC identifiers)

Start:
148,778,580 bp from pter      End:
149,275,805 bp from pter
Size:
497,226 bases      Orientation:
plus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MBD5_HUMAN, Q9P267 (See protein sequence)
Recommended Name: Methyl-CpG-binding domain protein 5  
Size: 1494 amino acids; 159895 Da
Sequence caution: Sequence=BAA92013.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA95985.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A5HMQ4 A7E2B1 Q53SR1 Q9NUV6
Alternative splicing: 2 isoforms:  Q9P267-1   Q9P267-2   

Explore the universe of human proteins at neXtProt for MBD5: NX_Q9P267

Explore proteomics data for MBD5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MBD5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060798.2  
    ENSEMBL proteins: 
     ENSP00000386049   ENSP00000384672   ENSP00000393168  

    MBD5 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MBD5

     
    Search eBioscience for Proteins for MBD5 

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    Cloud-Clone Corp. ELISAs for MBD5
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    Search eBioscience for ELISAs for MBD5 


    (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:
     IPR001739 Methyl_CpG_DNA-bd
     IPR016177 DNA-bd_dom
     IPR000313 PWWP_dom

    Graphical View of Domain Structure for InterPro Entry Q9P267

    ProtoNet protein and cluster: Q9P267

    1 Blocks protein domain: IPB000313 PWWP domain

    UniProtKB/Swiss-Prot: MBD5_HUMAN, Q9P267
    Domain: Both MBD and PWWP domains are necessary for chromocentric localization
    Similarity: Contains 1 MBD (methyl-CpG-binding) domain
    Similarity: Contains 1 PWWP domain


    Find genes that share domains with MBD5           About GenesLikeMe


    (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, 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: MBD5_HUMAN, Q9P267
    Function: Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677NOT DNA binding IDA--
    GO:0003682chromatin binding IDA--
         
    Find genes that share ontologies with MBD5           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mbd5):
     adipose tissue  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  integument 
     liver/biliary system  mortality/aging  nervous system 

    Find genes that share phenotypes with MBD5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Mbd5tm1.2Gxu for MBD5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MBD5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MBD5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MBD5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MBD5

    miRNA
    Products:
        
    miRTarBase miRNAs that target MBD5:
    hsa-mir-335-5p (MIRT016873)

    Block miRNA regulation of human, mouse, rat MBD5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MBD5 (see all 23):
    hsa-miR-142-5p hsa-miR-16-2* hsa-miR-106a hsa-let-7a-2* hsa-miR-138-2* hsa-miR-93 hsa-let-7g* hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidMBD5 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MBD5
    Predesigned siRNA for gene silencing in human, mouse, rat MBD5

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: MBD5 (NM_018328)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MBD5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBD5

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MBD5 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBD5


    (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
    MBD5_HUMAN, Q9P267: Isoform 1: Nucleus. Chromosome. Note=Associated with pericentric heterochromatin
    MBD5_HUMAN, Q9P267: Isoform 2: Nucleus. Note=Not associated with pericentric heterochromatin
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005694chromosome ----
    GO:0010369chromocenter IDA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with MBD5           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MBD5
    Interactions:

        Search GeneGlobe Interaction Network for MBD5

    3 Interacting proteins for MBD5 (Q9P2673) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APCP250543I2D: score=3 
    KIAA1549Q9HCM33I2D: score=2 
    MEF2CQ064133I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007399nervous system development IMP--
    GO:0040014regulation of multicellular organism growth ISS--
    GO:0042593glucose homeostasis ISS--
    GO:0044708single-organism behavior IMP--
    GO:0060399positive regulation of growth hormone receptor signaling pathway ISS--

    Find genes that share ontologies with MBD5           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 MBD5



    (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 MBD5 gene: 
    NM_018328.4  

    Unigene Cluster for MBD5:

    Methyl-CpG binding domain protein 5
    Hs.458312  [show with all ESTs]
    Unigene Representative Sequence: NM_018328
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000488372 ENST00000407073(uc002twm.4 uc010zbs.2) ENST00000496158
    ENST00000478190 ENST00000473478 ENST00000470063 ENST00000469438 ENST00000478804
    ENST00000404807(uc002two.3) ENST00000416015 ENST00000496893(uc002twp.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MBD5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MBD5 (see all 23):
    hsa-miR-142-5p hsa-miR-16-2* hsa-miR-106a hsa-let-7a-2* hsa-miR-138-2* hsa-miR-93 hsa-let-7g* hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidMBD5 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MBD5
    Predesigned siRNA for gene silencing in human, mouse, rat MBD5
    Clone
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    OriGene clones in human, mouse for MBD5 (see all 6)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MBD5 (NM_018328)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MBD5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBD5
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MBD5
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat MBD5
      QuantiTect SYBR Green Assays in human, mouse, rat MBD5
      QuantiFast Probe-based Assays in human, mouse, rat MBD5

    Additional mRNA sequence: 

    AB040894.1 AK090496.1 BC014534.1 BC150264.1 EF542797.1 

    11 DOTS entries:

    DT.107600  DT.97788598  DT.75118045  DT.99955557  DT.99970184  DT.102822037  DT.412283  DT.95256437 
    DT.91752469  DT.40126586  DT.86858011 

    Selected AceView cDNA sequences (see all 58):

    AI356788 BQ050666 AI567528 BU188374 AB040894 R19537 AI382036 NM_018328 
    AI811858 AK001975 AA453744 AA333394 AI433714 BU179389 AU253532 AI084483 
    AX746480 AK090496 BC014534 CB984520 BM991774 AA453825 CA417620 AA704515 

    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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    MBD5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACAAGCGTA
    MBD5 Expression
    About this image

    MBD5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MBD5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.458312

    UniProtKB/Swiss-Prot: MBD5_HUMAN, Q9P267
    Tissue specificity: Detected in heart, placenta, liver, skeletal muscle, kidney and pancreas

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBD5

    (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 animals.

    Orthologs for MBD5 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mbd51 , 5 methyl-CpG binding domain protein 51, 5 93.75(n)1
    95.26(a)1
      2 (28.43 cM)5
    1092411  NM_029924.21  NP_084200.11 
     489495105 
    chicken
    (Gallus gallus)
    Aves MBD51 methyl-CpG binding domain protein 5 86(n)
    86.89(a)
      424308  XM_004943017.1  XP_004943074.1 
    lizard
    (Anolis carolinensis)
    Reptilia MBD56
    methyl-CpG binding domain protein 5
    72(a)
    1 ↔ 1
    GL343278.1(245611-345803)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mbd51 methyl-CpG binding domain protein 5 75.16(n)
    77.08(a)
      100145640  XM_002943475.2  XP_002943521.2 
    zebrafish
    (Danio rerio)
    Actinopterygii mbd56
    methyl-CpG binding domain protein 5
    56(a)
    1 ↔ 1
    6(2609-13949) ENSDARG00000059581
    fruit fly
    (Drosophila melanogaster)
    Insecta sba6
    six-banded
    11(a)
    1 → many
    3R(19719889-19748695)


    ENSEMBL Gene Tree for MBD5 (if available)
    TreeFam Gene Tree for MBD5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MBD5 gene
    MBD62  
    2 SIMAP similar genes for MBD5 using alignment to 4 protein entries:     MBD5_HUMAN (see all proteins):
    CDC37    MBD6

    Find genes that share paralogs with MBD5           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 MBD5 (see all 8940)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs739641981,2
    C--140831926(+) TTGTTG/TTTTTC 1 -- int11Minor allele frequency- T:0.50WA 2
    rs2003804321,2
    --140831927(+) GTTGT-/TGTTTCT 1 -- int10--------
    rs709921931,2
    C--140858445(-) TCTCT-/CTCT  
      CTCTCT
    CTGTG
    1 -- int11Minor allele frequency- CTCTCTCTCT:0.00NA 2
    rs12274721,2
    C--140881946(-) TTTTTG/TTATTT 1 -- int14Minor allele frequency- T:0.12NA 8
    rs1461571001,2
    C--140886258(+) ATATT-/AAAAAA 1 -- int10--------
    rs2005311881,2
    C--140914866(+) TGTTTG/TTTTTA 1 -- int10--------
    rs2014142831,2
    C--140914867(+) GTTTGA/TTTTAT 1 -- int10--------
    rs1440023461,2
    C--140950925(+) ATAAG-/AAAAAAA 1 -- int10--------
    rs674922651,2
    C--140950935(-) TTAAT-/ATT/TT
            
    TTTTT
    2 -- int1 cds11NA 2
    rs713500781,2
    C--140950938(+) AAATTT/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2

    HapMap Linkage Disequilibrium report for MBD5 (148778580 - 149028580 bp, first 250kb of MBD5)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MBD5 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1092103CNV Deletion17803354
    esv2720941CNV Deletion23290073
    esv1091060CNV Deletion17803354
    esv2450736CNV Deletion19546169
    esv2720942CNV Deletion23290073
    esv2660027CNV Deletion23128226
    esv271149CNV Insertion20981092
    esv267779CNV Insertion20981092
    dgv4342n71CNV Loss21882294
    nsv875277CNV Loss21882294

    Human Gene Mutation Database (HGMD): MBD5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MBD5
    DNA2.0 Custom Variant and Variant Library Synthesis for MBD5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611472   
    OMIM disorders: 156200  
    UniProtKB/Swiss-Prot: MBD5_HUMAN, Q9P267
  • Mental retardation, autosomal dominant 1 (MRD1) [MIM:156200]: A disorder characterized by significantly
    below average general intellectual functioning associated with impairments in adaptive behavior and manifested
    during the developmental period. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 4 diseases for MBD5:    
    About MalaCards
    2q23.1 microdeletion syndrome    mental retardation, autosomal dominant 10    lagophthalmos    exposure keratitis

    3 diseases from the University of Copenhagen DISEASES database for MBD5:
    Lagophthalmos     Exposure keratitis     Keratopathy

    Find genes that share disorders with MBD5           About GenesLikeMe

    Genetic Association Database (GAD): MBD5

    Export disorders for MBD5 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 MBD5 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with MBD5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Comparative study of methyl-CpG-binding domain proteins. (PubMed id 12529184)1, 2, 3 Roloff T.C.... Nuber U.A. (BMC Genomics 2003)
    2. Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. (PubMed id 17847001)1, 2, 9 Wagenstaller J....Strom T.M. (Am. J. Hum. Genet. 2007)
    3. The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA. (PubMed id 20700456)1, 2 Laget S.... Defossez P.A. (PLoS ONE 2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    8. Extended spectrum of MBD5 mutations in neurodevelopmental disorders. (PubMed id 23422940)1 Bonnet C....Jonveaux P. (Eur. J. Hum. Genet. 2013)
    9. The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1. (PubMed id 23055267)1 Cukier H.N....Gilbert J.R. (Autism Res 2012)
    10. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. (PubMed id 21981781)1 Talkowski M.E....Elsea S.H. (Am. J. Hum. Genet. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55777 HGNC: 20444 AceView: MBD5 Ensembl:ENSG00000204406 euGenes: HUgn55777
    ECgene: MBD5 H-InvDB: MBD5

    (According to HUGE)
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    HUGE: KIAA1461

    (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 MBD5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MBD5 gene:
    Search GeneIP for patents involving MBD5

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



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