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Aliases for MBD6 Gene

Aliases for MBD6 Gene

  • Methyl-CpG Binding Domain Protein 6 2 3 5
  • Methyl-CpG-Binding Protein MBD6 3 4
  • Methyl-CpG-Binding Domain Protein 6 3
  • 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. Among its related pathways are Metabolism of proteins and Deubiquitination. Gene Ontology (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).

Additional gene information for MBD6 Gene

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

Genomics for MBD6 Gene

GeneHancer (GH) Regulatory Elements for MBD6 Gene

Promoters and enhancers for MBD6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J057516 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 683.8 +0.4 379 8.8 CLOCK FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MBD6 DDIT3 MIR616 ENSG00000285133 NEMP1 BAZ2A RN7SL809P ZBTB39 EEF1AKMT3 DTX3
GH12J057526 Promoter/Enhancer 0.9 EPDnew dbSUPER 650.4 +5.9 5917 0.1 POLR2A GLIS1 MBD6 KIF5A DCTN2 ARHGAP9 MARS DTX3 ARHGEF25 ENSG00000224713 SLC26A10 GLI1
GH12J057429 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 51.5 -89.9 -89862 3.5 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 R3HDM2 ENSG00000258001 BAZ2A NEMP1 MBD6 RN7SL809P CTDSP2 CDK4 OS9 EEF1AKMT3
GH12J057487 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 44.1 -32.0 -32047 2.9 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B ZNF766 ARHGAP9 MARS BAZ2A NEMP1 PRIM1 MBD6 ZBTB39 RN7SL809P DCTN2 EEF1AKMT3
GH12J056683 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 37.1 -833.9 -833939 7.8 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 PTGES3 GC12M056688 BAZ2A NEMP1 ZC3H10 RN7SL809P MBD6 DNAJC14 ENSG00000258317 RNU6-343P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MBD6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MBD6 gene promoter:
  • C/EBPalpha
  • PPAR-gamma2
  • PPAR-gamma1
  • Max1
  • c-Myc

Genomic Locations for MBD6 Gene

Genomic Locations for MBD6 Gene
chr12:57,520,710-57,530,148
(GRCh38/hg38)
Size:
9,439 bases
Orientation:
Plus strand
chr12:57,914,493-57,923,931
(GRCh37/hg19)
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

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for MBD6 Gene

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.
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).

Phenotypes From GWAS Catalog for MBD6 Gene

Gene Ontology (GO) - Molecular Function for MBD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 NOT DNA binding IEA,IDA 20700456
GO:0003682 chromatin binding IDA 20700456
genes like me logo Genes that share ontologies with MBD6: view
genes like me logo Genes that share phenotypes with MBD6: view

Animal Models for MBD6 Gene

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

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MBD6 gene
Compartment Confidence
nucleus 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MBD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA,IDA 20700456
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0010369 chromocenter IDA 20700456
genes like me logo Genes that share ontologies with MBD6: view

Pathways & Interactions for MBD6 Gene

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

Pathways by source for MBD6 Gene

Gene Ontology (GO) - Biological Process for MBD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016579 protein deubiquitination TAS --
genes like me logo Genes that share ontologies with MBD6: view

No data available for 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for MBD6 Gene



Protein tissue co-expression partners for MBD6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MBD6 Gene:

MBD6

SOURCE GeneReport for Unigene cluster for MBD6 Gene:

Hs.524523

Evidence on tissue expression from TISSUES for MBD6 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with MBD6: view

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 99.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MBD6 34 33
  • 94.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MBD6 34 33
  • 93.25 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mbd6 33
  • 90.87 (n)
mouse
(Mus musculus)
Mammalia Mbd6 16 34 33
  • 90.64 (n)
lizard
(Anolis carolinensis)
Reptilia MBD6 34
  • 35 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mbd6 34
  • 17 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta sba 34
  • 8 (a)
OneToMany
Species where no ortholog for MBD6 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MBD6: view image

Paralogs for MBD6 Gene

Paralogs for MBD6 Gene

(2) SIMAP similar genes for MBD6 Gene using alignment to 11 proteins:

  • MBD6_HUMAN
  • F8VNX1_HUMAN
  • F8VPC4_HUMAN
  • F8VU14_HUMAN
  • F8VVK7_HUMAN
  • F8VW40_HUMAN
  • F8VZD7_HUMAN
  • H0YHD1_HUMAN
  • H0YHN1_HUMAN
  • H0YIU1_HUMAN
  • Q6P0P0_HUMAN
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 Variation AA Info Type
rs144794136 likely-benign, not provided 57,528,971(+) C/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000179989 -- 57,519,646(+) G/C upstream_transcript_variant
rs1000204759 -- 57,519,297(+) C/T upstream_transcript_variant
rs1000321044 -- 57,518,956(+) G/A/C upstream_transcript_variant
rs1000456414 -- 57,525,766(+) C/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
dgv2651n54 CNV loss 21841781
esv2759901 CNV gain 17122850
nsv1053930 CNV loss 25217958
nsv428283 CNV gain 18775914
nsv469411 CNV loss 19166990
nsv482992 CNV gain+loss 15286789
nsv559034 CNV loss 21841781
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)

Additional Variant Information for MBD6 Gene

Human Gene Mutation Database (HGMD)
MBD6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBD6

SNP Genotyping and Copy Number Assay Products

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

Disorders for MBD6 Gene

Additional Disease Information for MBD6

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

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 PA (PloS one 2010) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Comparative study of methyl-CpG-binding domain proteins. (PMID: 12529184) Roloff TC … Nuber UA (BMC genomics 2003) 2 3 58
  4. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4 58
  5. Disease-causing point-mutations in metal-binding domains of Wilson disease protein decrease stability and increase structural dynamics. (PMID: 27744583) Kumar R … Wittung-Stafshede P (Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine 2017) 3 58

Products for MBD6 Gene

Sources for MBD6 Gene

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