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Aliases for MBD2 Gene

Aliases for MBD2 Gene

  • Methyl-CpG Binding Domain Protein 2 2 3 5
  • Demethylase 3 4
  • DMTase 3 4
  • Methyl-CpG-Binding Domain Protein 2 3
  • Methyl-CpG-Binding Protein MBD2 4
  • NY-CO-41 3

External Ids for MBD2 Gene

Previous GeneCards Identifiers for MBD2 Gene

  • GC18M051851
  • GC18M051615
  • GC18M049932
  • GC18M049934
  • GC18M048535

Summaries for MBD2 Gene

Entrez Gene Summary for MBD2 Gene

  • DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

GeneCards Summary for MBD2 Gene

MBD2 (Methyl-CpG Binding Domain Protein 2) is a Protein Coding gene. Diseases associated with MBD2 include Tetralogy Of Fallot. Among its related pathways are Development NOTCH1-mediated pathway for NF-KB activity modulation and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include chromatin binding and protein domain specific binding. An important paralog of this gene is MBD3.

UniProtKB/Swiss-Prot for MBD2 Gene

  • Binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binds hemimethylated DNA as well. Recruits histone deacetylases and DNA methyltransferases. Acts as transcriptional repressor and plays a role in gene silencing. Functions as a scaffold protein, targeting GATAD2A and GATAD2B to chromatin to promote repression. May enhance the activation of some unmethylated cAMP-responsive promoters.

Gene Wiki entry for MBD2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBD2 Gene

Genomics for MBD2 Gene

Regulatory Elements for MBD2 Gene

Enhancers for MBD2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G054259 1.4 FANTOM5 Ensembl ENCODE 15.9 -36.4 -36418 3.5 PKNOX1 BACH1 CHD4 ZBTB40 RELA FOXM1 CTBP1 GATA3 ARID3A EGR1 POLI MBD2 SNORA37 C18orf54 GC18P054260
GH18G054246 1.2 Ensembl ENCODE dbSUPER 12.2 -22.6 -22571 2.6 CTCF FOXA2 RBBP5 EBF1 ZBTB40 ARID3A POLR2A ZNF143 RELB IKZF2 POLI MBD2 SNORA37 C18orf54 STARD6 ENSG00000264296 GC18P054260
GH18G054250 1.2 Ensembl ENCODE 12.1 -28.0 -28033 5.5 FOXA2 ATF1 MLX ARID4B FEZF1 DMAP1 YY1 FOS JUNB PPARG POLI C18orf54 MBD2 SNORA37 STARD6 GC18P054260
GH18G054257 1.1 Ensembl ENCODE dbSUPER 12.4 -33.1 -33121 1.8 GATA3 CEBPA HLF TEAD4 CEBPB CEBPG NR2F6 POLI MBD2 SNORA37 C18orf54 STARD6 GC18P054260
GH18G054284 1.1 Ensembl ENCODE 11.4 -60.4 -60357 2.3 TBP PKNOX1 TBL1XR1 BMI1 EGR1 CBX5 RELB ETV6 IKZF2 CREM POLI SNORA37 MBD2 C18orf54 STARD6 ENSG00000277324 GC18M054269
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MBD2 on UCSC Golden Path with GeneCards custom track

Promoters for MBD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000103437 688 1801 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A YY1 ZNF207 ZNF143 FOS

Genomic Location for MBD2 Gene

Chromosome:
18
Start:
54,151,601 bp from pter
End:
54,224,788 bp from pter
Size:
73,188 bases
Orientation:
Minus strand

Genomic View for MBD2 Gene

Genes around MBD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBD2 Gene

Proteins for MBD2 Gene

  • Protein details for MBD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBB5-MBD2_HUMAN
    Recommended name:
    Methyl-CpG-binding domain protein 2
    Protein Accession:
    Q9UBB5
    Secondary Accessions:
    • O95242
    • Q9UIS8

    Protein attributes for MBD2 Gene

    Size:
    411 amino acids
    Molecular mass:
    43255 Da
    Quaternary structure:
    • Heterodimer with MBD3. Component of the MeCP1 complex that contains HDAC1 and HDAC2. Binds DNMT1, MIZF, GPN1, SIN3A, GATAD2A/p66-alpha and GATAD2B/p66-beta. Interacts with DHX9.

    Three dimensional structures from OCA and Proteopedia for MBD2 Gene

    Alternative splice isoforms for MBD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MBD2 Gene

Post-translational modifications for MBD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MBD2 Gene

Antibody Products

  • Abcam antibodies for MBD2

No data available for DME Specific Peptides for MBD2 Gene

Domains & Families for MBD2 Gene

Protein Domains for MBD2 Gene

Suggested Antigen Peptide Sequences for MBD2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MBD2: view

No data available for UniProtKB/Swiss-Prot for MBD2 Gene

Function for MBD2 Gene

Molecular function for MBD2 Gene

GENATLAS Biochemistry:
methyl-CpG binding protein 2,demethylase,40kDa,binding methylated DNA,histone deacetylase complex,widely expressed,underexpressed at the early stage of colorectal and stomach carcinogenesis
UniProtKB/Swiss-Prot Function:
Binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binds hemimethylated DNA as well. Recruits histone deacetylases and DNA methyltransferases. Acts as transcriptional repressor and plays a role in gene silencing. Functions as a scaffold protein, targeting GATAD2A and GATAD2B to chromatin to promote repression. May enhance the activation of some unmethylated cAMP-responsive promoters.

Gene Ontology (GO) - Molecular Function for MBD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 contributes_to RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 16217013
GO:0000980 contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding IDA 16217013
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003696 satellite DNA binding TAS 9774669
genes like me logo Genes that share ontologies with MBD2: view
genes like me logo Genes that share phenotypes with MBD2: view

Animal Models for MBD2 Gene

MGI Knock Outs for MBD2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MBD2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MBD2 Gene

Localization for MBD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBD2 Gene

Nucleus. Note=Nuclear, in discrete foci. Detected at replication foci in late S phase.

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 MBD2 gene
Compartment Confidence
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for MBD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000118 histone deacetylase complex IEA --
GO:0000785 chromatin IEA --
GO:0000790 nuclear chromatin IDA 16217013
GO:0000792 heterochromatin IEA --
GO:0005634 nucleus NAS,TAS 10441743
genes like me logo Genes that share ontologies with MBD2: view

Pathways & Interactions for MBD2 Gene

genes like me logo Genes that share pathways with MBD2: view

Gene Ontology (GO) - Biological Process for MBD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IBA --
GO:0000183 chromatin silencing at rDNA TAS --
GO:0006346 methylation-dependent chromatin silencing IGI 23770133
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with MBD2: view

No data available for SIGNOR curated interactions for MBD2 Gene

Drugs & Compounds for MBD2 Gene

(9) Drugs for MBD2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0

(9) Additional Compounds for MBD2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cytosine
  • 4-Amino-2(1H)-pyrimidinone
  • 4-Amino-2-hydroxypyrimidine
  • 4-Amino-2-oxo-1,2-dihydropyrimidine
  • 4-Aminouracil
  • Cytosine
71-30-7
genes like me logo Genes that share compounds with MBD2: view

Transcripts for MBD2 Gene

Unigene Clusters for MBD2 Gene

Methyl-CpG binding domain protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MBD2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MBD2 Gene

No ASD Table

Relevant External Links for MBD2 Gene

GeneLoc Exon Structure for
MBD2
ECgene alternative splicing isoforms for
MBD2

Expression for MBD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MBD2 Gene

Protein differential expression in normal tissues from HIPED for MBD2 Gene

This gene is overexpressed in Brain (48.0) and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MBD2 Gene



Protein tissue co-expression partners for MBD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MBD2 Gene:

MBD2

SOURCE GeneReport for Unigene cluster for MBD2 Gene:

Hs.25674

mRNA Expression by UniProt/SwissProt for MBD2 Gene:

Q9UBB5-MBD2_HUMAN
Tissue specificity: Highly expressed in brain, heart, kidney, stomach, testis and placenta.

Evidence on tissue expression from TISSUES for MBD2 Gene

  • Liver(4.2)
genes like me logo Genes that share expression patterns with MBD2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MBD2 Gene

Orthologs for MBD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MBD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MBD2 34 35
  • 98.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MBD2 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MBD2 34 35
  • 96.25 (n)
cow
(Bos Taurus)
Mammalia MBD2 34 35
  • 93.47 (n)
mouse
(Mus musculus)
Mammalia Mbd2 34 16 35
  • 91.32 (n)
rat
(Rattus norvegicus)
Mammalia Mbd2 34
  • 89.92 (n)
oppossum
(Monodelphis domestica)
Mammalia MBD2 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves MBD2 34
  • 69.29 (n)
-- 35
  • 67 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia MBD2 35
  • 92 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.21615 34
zebrafish
(Danio rerio)
Actinopterygii mbd2 34 35
  • 69.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta MBD-like 36 34 35
  • 52.4 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003982 34
  • 50.55 (n)
Species where no ortholog for MBD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 MBD2 Gene

ENSEMBL:
Gene Tree for MBD2 (if available)
TreeFam:
Gene Tree for MBD2 (if available)

Paralogs for MBD2 Gene

Paralogs for MBD2 Gene

(2) SIMAP similar genes for MBD2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MBD2: view

Variants for MBD2 Gene

Sequence variations from dbSNP and Humsavar for MBD2 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs1000019161 -- 54,156,212(+) GTTAT(G/T)TGAGT intron-variant
rs1000038126 -- 54,163,861(+) GAAAA(A/G)GCATA intron-variant
rs1000050436 -- 54,218,953(+) TAAGA(-/CTC)CGTCT intron-variant
rs1000063872 -- 54,157,017(+) TGCAG(A/C)ATCTG intron-variant
rs1000105883 -- 54,207,571(+) ACACA(A/G)TGGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MBD2 Gene

Variant ID Type Subtype PubMed ID
esv3422299 CNV insertion 20981092
esv993042 CNV deletion 20482838
nsv1072267 CNV deletion 25765185
nsv1121952 CNV deletion 24896259

Variation tolerance for MBD2 Gene

Residual Variation Intolerance Score: 23.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MBD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBD2 Gene

Disorders for MBD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MBD2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tetralogy of fallot
  • tetrology of fallot
- elite association - COSMIC cancer census association via MalaCards
Search MBD2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MBD2

Genetic Association Database (GAD)
MBD2
Human Genome Epidemiology (HuGE) Navigator
MBD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MBD2
genes like me logo Genes that share disorders with MBD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MBD2 Gene

Publications for MBD2 Gene

  1. Genomic structure and chromosomal mapping of the murine and human mbd1, mbd2, mbd3, and mbd4 genes. (PMID: 10441743) Hendrich B. … Bird A. (Mamm. Genome 1999) 2 3 4 22 64
  2. Identification and characterization of a family of mammalian methyl- CpG binding proteins. (PMID: 9774669) Hendrich B. … Bird A. (Mol. Cell. Biol. 1998) 2 3 4 22 64
  3. p66alpha and p66beta of the Mi-2/NuRD complex mediate MBD2 and histone interaction. (PMID: 16415179) Brackertz M. … Renkawitz R. (Nucleic Acids Res. 2006) 3 4 22 64
  4. Genotypes and haplotypes of the methyl-CpG-binding domain 2 modify breast cancer risk dependent upon menopausal status. (PMID: 16168120) Zhu Y. … Zheng T. (Breast Cancer Res. 2005) 3 22 46 64
  5. Antithetic effects of MBD2a on gene regulation. (PMID: 12665568) Fujita H. … Nakajima T. (Mol. Cell. Biol. 2003) 3 4 22 64

Products for MBD2 Gene

Sources for MBD2 Gene

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