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Aliases for MBD5 Gene

Aliases for MBD5 Gene

  • Methyl-CpG Binding Domain Protein 5 2 3 5
  • Methyl-CpG-Binding Protein MBD5 3 4
  • KIAA1461 4
  • MRD1 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 Autosomal Dominant Non-Syndromic Intellectual Disability and 2Q23.1 Microdeletion Syndrome. 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

Regulatory Elements for MBD5 Gene

Enhancers for MBD5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MBD5 on UCSC Golden Path with GeneCards custom track

Promoters for MBD5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MBD5 on UCSC Golden Path with GeneCards custom track

Genomic Location for MBD5 Gene

148,021,011 bp from pter
148,516,971 bp from pter
495,961 bases
Plus strand

Genomic View for MBD5 Gene

Genes around MBD5 on UCSC Golden Path with GeneCards custom track

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

No data available for DME Specific Peptides for MBD5 Gene

Domains & 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).
genes like me logo Genes that share phenotypes with MBD5: view

Human Phenotype Ontology for MBD5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MBD5 Gene

MGI Knock Outs for MBD5:

Animal Model Products

miRNA for MBD5 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
extracellular 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for MBD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010369 chromocenter IDA 20700456
genes like me logo Genes that share ontologies with MBD5: view

Pathways & Interactions 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:0040014 regulation of multicellular organism growth ISS --
GO:0098779 mitophagy in response to mitochondrial depolarization IGI 22020285
GO:0098792 xenophagy IMP 22020285
genes like me logo Genes that share ontologies with MBD5: view

No data available for Pathways by source and SIGNOR curated interactions for MBD5 Gene

Drugs & Compounds for MBD5 Gene

No Compound Related Data Available

Transcripts for MBD5 Gene

Unigene Clusters for MBD5 Gene

Methyl-CpG binding domain protein 5:
Representative Sequences:

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 from HIPED for MBD5 Gene

This gene is overexpressed in Tlymphocyte (68.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, 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 expression patterns with MBD5: view

Protein tissue co-expression partners for MBD5 Gene

Primer 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
VAR_037561 -
VAR_037562 -
VAR_037563 -
VAR_037564 -
rs114314967 - 148,469,973(+) GGATA(A/G)TTCTG nc-transcript-variant, reference, missense

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

Variation tolerance for MBD5 Gene

Residual Variation Intolerance Score: 2.01% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.81; 47.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MBD5 Gene

Human Gene Mutation Database (HGMD)

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

Disorders for MBD5 Gene

MalaCards: The human disease database

(10) MalaCards diseases for MBD5 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
2q23.1 microdeletion syndrome
  • chromosome 2q23.1 microdeletion syndrome
paralytic lagophthalmos
ptosis, congenital
  • congenital ptosis
- elite association - COSMIC cancer census association via MalaCards
Search MBD5 in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for MBD5

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MBD5: view

No data available for 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 67
  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 23
  3. MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes. (PMID: 25271084) Mullegama S.V. … Elsea S.H. (Eur. J. Hum. Genet. 2015) 3
  4. Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder. (PMID: 25853262) Mullegama S.V. … Elsea S.H. (Int J Mol Sci 2015) 3
  5. A molecular model for neurodevelopmental disorders. (PMID: 25966365) Gigek C.O. … Ernst C. (Transl Psychiatry 2015) 3

Products for MBD5 Gene

Sources for MBD5 Gene