Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MBD6 Gene

Aliases for MBD6 Gene

  • Methyl-CpG Binding Domain Protein 6 2 3 5
  • Methyl-CpG-Binding Protein MBD6 4
  • KIAA1887 4

External Ids for MBD6 Gene

Previous GeneCards Identifiers for MBD6 Gene

  • GC12P058059
  • GC12P057633
  • GC12P056202
  • GC12P057916
  • GC12P054932

Summaries for MBD6 Gene

GeneCards Summary for MBD6 Gene

MBD6 (Methyl-CpG Binding Domain Protein 6) is a Protein Coding gene. GO annotations related to this gene include chromatin binding. An important paralog of this gene is MBD5.

UniProtKB/Swiss-Prot for MBD6 Gene

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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBD6 Gene

Genomics for MBD6 Gene

Regulatory Elements for MBD6 Gene

Promoters for MBD6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MBD6 on UCSC Golden Path with GeneCards custom track

Genomic Location for MBD6 Gene

Chromosome:
12
Start:
57,520,710 bp from pter
End:
57,530,148 bp from pter
Size:
9,439 bases
Orientation:
Plus strand

Genomic View for MBD6 Gene

Genes around MBD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBD6 Gene

Proteins for MBD6 Gene

  • Protein details for MBD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DN6-MBD6_HUMAN
    Recommended name:
    Methyl-CpG-binding domain protein 6
    Protein Accession:
    Q96DN6
    Secondary Accessions:
    • Q8N3M0
    • Q8NA81
    • Q96Q00

    Protein attributes for MBD6 Gene

    Size:
    1003 amino acids
    Molecular mass:
    101201 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MBD6 Gene

Proteomics data for MBD6 Gene at MOPED

Post-translational modifications for MBD6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MBD6 Gene

Domains & Families for MBD6 Gene

Gene Families for MBD6 Gene

Protein Domains for MBD6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MBD6 Gene

Graphical View of Domain Structure for InterPro Entry

Q96DN6

UniProtKB/Swiss-Prot:

MBD6_HUMAN :
  • The MBD domain is necessary for chromocentric localization.
Domain:
  • The MBD domain is necessary for chromocentric localization.
  • Contains 1 MBD (methyl-CpG-binding) domain.
genes like me logo Genes that share domains with MBD6: view

Function for MBD6 Gene

Molecular function for MBD6 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 MBD6: view

Animal Models for MBD6 Gene

MGI Knock Outs for MBD6:
  • Mbd6 tm1.1(KOMP)Vlcg

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MBD6 Gene

Localization for MBD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBD6 Gene

Nucleus. Chromosome. Note=Associated with pericentric heterochromatin in about 25% of the cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MBD6 Gene COMPARTMENTS Subcellular localization image for MBD6 gene
Compartment Confidence
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for MBD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010369 chromocenter IDA 20700456
genes like me logo Genes that share ontologies with MBD6: view

Pathways & Interactions for MBD6 Gene

SuperPathways for MBD6 Gene

No Data Available

Interacting Proteins for MBD6 Gene

Gene Ontology (GO) - Biological Process for MBD6 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MBD6 Gene

Drugs & Compounds for MBD6 Gene

No Compound Related Data Available

Transcripts for MBD6 Gene

Unigene Clusters for MBD6 Gene

Methyl-CpG binding domain protein 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MBD6 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a ·
SP1:
SP2:
SP3: - -
SP4: - - -
SP5: -
SP6: -
SP7: - - - - -
SP8: - - - - - -
SP9: - - - - -
SP10: - - - - -
SP11: - - - - -
SP12: - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

ExUns: 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: - -

Relevant External Links for MBD6 Gene

GeneLoc Exon Structure for
MBD6
ECgene alternative splicing isoforms for
MBD6

Expression for MBD6 Gene

mRNA expression in normal human tissues for MBD6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MBD6 Gene

This gene is overexpressed in Whole Blood (x4.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MBD6 Gene



SOURCE GeneReport for Unigene cluster for MBD6 Gene Hs.524523

genes like me logo Genes that share expression patterns with MBD6: view

Protein tissue co-expression partners for MBD6 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MBD6 Gene

Orthologs for MBD6 Gene

This gene was present in the common ancestor of animals.

Orthologs for MBD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MBD6 35
  • 99.8 (n)
  • 99.9 (a)
MBD6 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MBD6 36
  • 94 (a)
OneToOne
MBD6 35
  • 94.32 (n)
  • 95.21 (a)
dog
(Canis familiaris)
Mammalia MBD6 35
  • 93.25 (n)
  • 94.52 (a)
MBD6 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mbd6 16
Mbd6 36
  • 93 (a)
OneToOne
Mbd6 35
  • 90.64 (n)
  • 91.88 (a)
rat
(Rattus norvegicus)
Mammalia Mbd6 35
  • 90.87 (n)
  • 91.79 (a)
lizard
(Anolis carolinensis)
Reptilia MBD6 36
  • 35 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mbd6 36
  • 17 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta sba 36
  • 8 (a)
OneToMany
Species with no ortholog for MBD6:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MBD6 Gene

ENSEMBL:
Gene Tree for MBD6 (if available)
TreeFam:
Gene Tree for MBD6 (if available)

Paralogs for MBD6 Gene

Paralogs for MBD6 Gene

genes like me logo Genes that share paralogs with MBD6: view

Variants for MBD6 Gene

Sequence variations from dbSNP and Humsavar for MBD6 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1284605 -- 57,527,405(+) CATGG(C/T)CTATC intron-variant
rs1709873 -- 57,528,876(+) AGTTT(C/T)CCACC intron-variant, reference, missense
rs2127318 -- 57,526,479(+) AGGGT(G/T)TTCTG intron-variant
rs2620679 -- 57,528,580(+) CTGGT(A/G)GTCTG intron-variant
rs7965140 -- 57,524,219(+) GTCCT(C/G)TCTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MBD6 Gene

Variant ID Type Subtype PubMed ID
nsv899117 CNV Loss 21882294
nsv899118 CNV Gain 21882294
dgv513e1 CNV Complex 17122850
nsv428283 CNV Gain 18775914
nsv469411 CNV Loss 19166990
nsv899119 CNV Loss 21882294
nsv899120 CNV Loss 21882294
nsv724 CNV Insertion 18451855

Variation tolerance for MBD6 Gene

Residual Variation Intolerance Score: 62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.19; 52.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MBD6 Gene

HapMap Linkage Disequilibrium report
MBD6
Human Gene Mutation Database (HGMD)
MBD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBD6 Gene

Disorders for MBD6 Gene

Relevant External Links for MBD6

Genetic Association Database (GAD)
MBD6
Human Genome Epidemiology (HuGE) Navigator
MBD6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MBD6

No disorders were found for MBD6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MBD6 Gene

Publications for MBD6 Gene

  1. The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA. (PMID: 20700456) Laget S. … Defossez P.A. (PLoS ONE 2010) 3 4 67
  2. Comparative study of methyl-CpG-binding domain proteins. (PMID: 12529184) Roloff T.C. … Nuber U.A. (BMC Genomics 2003) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain. (PMID: 24634419) Baymaz H.I. … Vermeulen M. (Proteomics 2014) 3
  5. MBD6 is a direct target of Oct4 and controls the stemness and differentiation of adipose tissue-derived stem cells. (PMID: 23052207) Jung J.S. … Kang S.K. (Cell. Mol. Life Sci. 2013) 3

Products for MBD6 Gene

Sources for MBD6 Gene

Back to Top

Content