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Aliases for MBD5 Gene

Aliases for MBD5 Gene

  • Methyl-CpG Binding Domain Protein 5 2 3
  • Methyl-CpG-Binding Protein MBD5 3 4
  • KIAA1461 4 6
  • MRD1 3 6
  • Methyl-CpG-Binding Domain Protein 5 3

External Ids for MBD5 Gene

Previous GeneCards Identifiers for MBD5 Gene

  • GC02P147594
  • GC02P149238
  • GC02P149426
  • GC02P149049
  • GC02P148932
  • GC02P148495
  • GC02P148778
  • GC02P140776

Summaries for MBD5 Gene

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 autosomal dominant non-syndromic intellectual disability. GO annotations related to this gene include chromatin binding. An important paralog of this gene is MBD6.

UniProtKB/Swiss-Prot for MBD5 Gene

  • Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro)

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBD5 Gene

Genomics for MBD5 Gene

Genomic Location for MBD5 Gene

148,021,011 bp from pter
148,518,236 bp from pter
497,226 bases
Plus strand

Genomic View for MBD5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MBD5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBD5 Gene

Proteins for MBD5 Gene

  • Protein details for MBD5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Methyl-CpG-binding domain protein 5
    Protein Accession:
    Secondary Accessions:
    • A5HMQ4
    • A7E2B1
    • Q53SR1
    • Q9NUV6

    Protein attributes for MBD5 Gene

    1494 amino acids
    Molecular mass:
    159895 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA92013.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA95985.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MBD5 Gene


neXtProt entry for MBD5 Gene

Proteomics data for MBD5 Gene at MOPED

Post-translational modifications for MBD5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MBD5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MBD5 Gene

Domains for MBD5 Gene

Gene Families for MBD5 Gene

Protein Domains for MBD5 Gene

Suggested Antigen Peptide Sequences for MBD5 Gene

Graphical View of Domain Structure for InterPro Entry



  • Both MBD and PWWP domains are necessary for chromocentric localization
  • Both MBD and PWWP domains are necessary for chromocentric localization
  • Contains 1 MBD (methyl-CpG-binding) domain.
  • Contains 1 PWWP domain.
genes like me logo Genes that share domains with MBD5: view

Function for MBD5 Gene

Molecular function for MBD5 Gene

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

Gene Ontology (GO) - Molecular Function for MBD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 NOT DNA binding IDA 20700456
GO:0003682 chromatin binding IDA 20700456
genes like me logo Genes that share ontologies with MBD5: view
genes like me logo Genes that share phenotypes with MBD5: view

Animal Models for MBD5 Gene

MGI Knock Outs for MBD5:

Animal Model Products

miRNA for MBD5 Gene

miRTarBase miRNAs that target MBD5

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MBD5

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MBD5 Gene

Localization for MBD5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBD5 Gene

Isoform 1: Nucleus. Chromosome. Note=Associated with pericentric heterochromatin.
Isoform 2: Nucleus. Note=Not associated with pericentric heterochromatin.

Subcellular locations from

Jensen Localization Image for MBD5 Gene COMPARTMENTS Subcellular localization image for MBD5 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MBD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 20700456
GO:0010369 chromocenter IDA 20700456
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with MBD5: view

Pathways for MBD5 Gene

SuperPathways for MBD5 Gene

No Data Available

Interacting Proteins for MBD5 Gene

Gene Ontology (GO) - Biological Process for MBD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002230 positive regulation of defense response to virus by host IMP 22020285
GO:0007399 nervous system development IMP 23587880
GO:0040014 regulation of multicellular organism growth ISS --
GO:0042593 glucose homeostasis ISS --
GO:0044708 single-organism behavior IMP 23587880
genes like me logo Genes that share ontologies with MBD5: view

No data available for Pathways by source for MBD5 Gene

Transcripts for MBD5 Gene

Unigene Clusters for MBD5 Gene

Methyl-CpG binding domain protein 5:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MBD5

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MBD5 Gene

No ASD Table

Relevant External Links for MBD5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MBD5 Gene

mRNA expression in normal human tissues for MBD5 Gene

Protein differential expression in normal tissues for MBD5 Gene

This gene is overexpressed in Tlymphocyte (68.8).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for MBD5 Gene

SOURCE GeneReport for Unigene cluster for MBD5 Gene Hs.458312

mRNA Expression by UniProt/SwissProt for MBD5 Gene

Tissue specificity: Detected in heart, placenta, liver, skeletal muscle, kidney and pancreas.
genes like me logo Genes that share expressions with MBD5: view

Expression partners for MBD5 Gene

* - Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MBD5 Gene

Orthologs for MBD5 Gene

This gene was present in the common ancestor of animals.

Orthologs for MBD5 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MBD5 35
  • 95.65 (n)
  • 96.52 (a)
MBD5 36
  • 96 (a)
(Canis familiaris)
Mammalia MBD5 35
  • 96.71 (n)
  • 97.7 (a)
MBD5 36
  • 97 (a)
(Mus musculus)
Mammalia Mbd5 35
  • 93.75 (n)
  • 95.26 (a)
Mbd5 16
Mbd5 36
  • 82 (a)
(Pan troglodytes)
Mammalia MBD5 35
  • 99.53 (n)
  • 99.06 (a)
MBD5 36
  • 99 (a)
(Monodelphis domestica)
Mammalia MBD5 36
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia MBD5 36
  • 48 (a)
(Gallus gallus)
Aves MBD5 35
  • 86 (n)
  • 86.89 (a)
MBD5 36
  • 74 (a)
(Anolis carolinensis)
Reptilia MBD5 36
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mbd5 35
  • 75.16 (n)
  • 77.08 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14069 35
(Danio rerio)
Actinopterygii mbd5 36
  • 56 (a)
fruit fly
(Drosophila melanogaster)
Insecta sba 36
  • 11 (a)
Species with no ortholog for MBD5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MBD5 Gene

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

Paralogs for MBD5 Gene

Paralogs for MBD5 Gene

(2) SIMAP similar genes for MBD5 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MBD5: view

Variants for MBD5 Gene

Sequence variations from dbSNP and Humsavar for MBD5 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs4001 -- 148,118,074(+) AGCCC(C/T)TAAAG intron-variant
rs387334 -- 148,365,399(-) gtcag(A/T)tttag intron-variant
rs438923 -- 148,365,573(+) gatag(A/C)ccgct intron-variant
rs765056 -- 148,485,429(-) TTTTA(C/G)ATCTA intron-variant
rs869595 -- 148,351,115(-) GAATA(C/T)AAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MBD5 Gene

Variant ID Type Subtype PubMed ID
esv267779 CNV Insertion 20981092
esv2450736 CNV Deletion 19546169
nsv875276 CNV Loss 21882294
esv271149 CNV Insertion 20981092
nsv523090 CNV Loss 19592680
nsv875277 CNV Loss 21882294
dgv4342n71 CNV Loss 21882294
esv2720941 CNV Deletion 23290073
esv2720942 CNV Deletion 23290073
esv1091060 CNV Deletion 17803354
esv1092103 CNV Deletion 17803354
esv2751831 CNV Gain 17911159
esv29150 CNV Loss 19812545
nsv518198 CNV Loss 19592680
esv2660027 CNV Deletion 23128226
esv27183 CNV Loss 19812545

Relevant External Links for MBD5 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBD5 Gene

Disorders for MBD5 Gene

(1) OMIM Diseases for MBD5 Gene (611472)


  • 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. {ECO:0000269 PubMed:17847001}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for MBD5 Gene

Relevant External Links for MBD5

Genetic Association Database (GAD)
genes like me logo Genes that share disorders with MBD5: view

No data available for Novoseek inferred disease relationships and Genatlas for MBD5 Gene

Publications for MBD5 Gene

  1. Comparative study of methyl-CpG-binding domain proteins. (PMID: 12529184) Roloff T.C. … Nuber U.A. (BMC Genomics 2003) 2 3 4
  2. Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. (PMID: 17847001) Wagenstaller J. … Strom T.M. (Am. J. Hum. Genet. 2007) 3 4 23
  3. 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. (PMID: 10819331) Nagase T. … Ohara O. (DNA Res. 2000) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for MBD5 Gene

Sources for MBD5 Gene

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