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Relevance to Autism

Genetic association and rare variants have been found in the MBD3 gene associated with autism in a Caucasian and African-American cohort (Cukier et al., 2010).

Molecular Function

The encoded protein is is a subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.
ASD
Highly Cited
Closely related proteins MBD2 and MBD3 play distinctive but interacting roles in mouse development.
Highly Cited
MBD2-MBD3 complex binds to hemi-methylated DNA and forms a complex containing DNMT1 at the replication foci in late S phase.
Recent Recommendation
Mbd3, a component of NuRD/Mi-2 complex, helps maintain pluripotency of mouse embryonic stem cells by repressing trophectoderm differentiation.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN153R001 
 missense_variant 
 c.68G>T 
 p.Arg23Met 
 Familial 
  
  
 GEN153R002 
 intron_variant 
 C>T 
  
  
  
  
 GEN153R003 
 intron_variant 
 G>A 
  
  
  
  
 GEN153R004 
 synonymous_variant 
 C>T 
 p.(=) 
  
  
  
 GEN153R005 
 inframe_deletion 
 delGAG 
 p.Glu281del 
  
  
  
 GEN153R006 
 synonymous_variant 
 C>T 
 p.(=) 
  
  
  
 GEN153R007 
 synonymous_variant 
 A>G 
 p.(=) 
  
  
  
 GEN153R008 
 inframe_deletion 
 delGAG 
  
  
  
  
 GEN153R009 
 synonymous_variant 
 C>T 
 p.(=) 
  
  
  
 GEN153R010 
 synonymous_variant 
 C>T 
 p.(=) 
  
  
  
 GEN153R011 
 synonymous_variant 
 G>A 
 p.(=) 
  
  
  
 GEN153R012 
 frameshift_variant 
 del20insCTG 
  
 Unknown 
  
 Unknown 
 GEN153R013 
 synonymous_variant 
 G>A 
 p.(=) 
  
  
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN153C001 
 3_prime_UTR_variant 
 rs1053151 
 c.*955C>T 
  
  
 Discovery 
 GEN153C002 
 3_prime_UTR_variant 
 rs9585 
 c.*1046G>A 
 G/A 
  
 Discovery 
 GEN153C003 
 3_prime_UTR_variant 
 rs16994495 
 c.*1231A>G 
  
  
 Discovery 
 GEN153C004 
 3_prime_UTR_variant 
 rs2238588 
 c.*1235A>G 
 A/G 
  
 Discovery 
 GEN153C005 
 3_prime_UTR_variant 
 rs12884 
 c.*1239G>C 
  
  
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 32
 
19
Deletion-Duplication
 9
 

Model Summary

In vivo functions and interrelationships of MBD2 and MBD3.

References

Type
Title
Author, Year
Primary
Closely related proteins MBD2 and MBD3 play distinctive but interacting roles in mouse development.

M_MBD3_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted replacement of a genomic fragment containing exons 2-7 of the Mbd3 gene with a promoterless Betageo cassette.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_MBD3_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
Increased
Description: Increased lethality - embryonic lethal
Exp Paradigm: General observations
 General observations
 E8.5
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AURKA aurora kinase A 6790 O14965 IP/WB; Metabolic labeling with 32P; 2-D phosphopeptide mapping
Sakai H , et al. 2002
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 53335 Q9H165 GST; MS; ChIP; IP/WB
Cismasiu VB , et al. 2005
C9ORF25 Protein FAM219A 203259 Q8IW50-3 IP; LC-MS/MS
Huttlin EL , et al. 2015
CEP76 Centrosomal protein of 76 kDa 79959 Q8TAP6 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CHD4 chromodomain helicase DNA binding protein 4 1108 Q14839 IP/WB
Sakai H , et al. 2002
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
CPNE5 Copine-5 57699 Q9HCH3 IP; LC-MS/MS
Huttlin EL , et al. 2015
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP; RNA immunoprecipitation (RIP)
Ascano M Jr , et al. 2012
GATAD2A GATA zinc finger domain containing 2A 54815 Q86YP4 GST
Brackertz M , et al. 2002
GATAD2A GATA zinc finger domain containing 2A 54815 Q86YP4 IP; LC-MS/MS
Huttlin EL , et al. 2015
GATAD2B GATA zinc finger domain containing 2B 57459 Q8WXI9 GST
Brackertz M , et al. 2002
GATAD2B GATA zinc finger domain containing 2B 57459 Q8WXI9 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
GATAD2B GATA zinc finger domain containing 2B 57459 Q8WXI9 IP; LC-MS/MS
Huttlin EL , et al. 2015
GOLGA2 golgin A2 2801 Q08379 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
HDAC1 histone deacetylase 1 3065 Q13547 in vitro binding assay; IP/WB
Zhang Y , et al. 1999
HDAC1 histone deacetylase 1 3065 Q13547 IP/WB
Sakai H , et al. 2002
HDAC1 histone deacetylase 1 3065 Q13547 IP; LC-MS/MS
Huttlin EL , et al. 2015
HDAC2 histone deacetylase 2 3066 Q92769 IP/WB
Sakai H , et al. 2002
ICA1 islet cell autoantigen 1, 69kDa 3382 Q05084 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
KDM5B lysine (K)-specific demethylase 5B 10765 Q9UGL1 Affinity chromatography; IP/WB; FPLC; GST
Li Q , et al. 2011
KRT15 keratin 15 3866 P19012 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
L3MBTL2 l(3)mbt-like 2 (Drosophila) 83746 Q969R5 IP; LC-MS/MS
Huttlin EL , et al. 2015
MBD2 methyl-CpG binding domain protein 2 8932 Q9UBB5 Y2H; IP/WB
Tatematsu KI , et al. 2000
MBD3 methyl-CpG binding domain protein 3 53615 O95983 Y2H; IP/WB
Tatematsu KI , et al. 2000
MBD3L1 methyl-CpG binding domain protein 3-like 1 85509 Q8WWY6 Y2H; GST
Jiang CL , et al. 2004
MTA2 metastasis associated 1 family, member 2 9219 O94776 in vitro binding assay; IP/WB
IP; MS; GST
Zhang Y , et al. 1999
PHF20L1 PHD finger protein 20-like 1 51105 A8MW92 IP; LC-MS/MS
Huttlin EL , et al. 2015
RBBP4 retinoblastoma binding protein 4 5928 Q09028 in vitro binding assay
Zhang Y , et al. 1999
RBBP7 retinoblastoma binding protein 7 5931 Q16576 in vitro binding assay
IP/WB
Zhang Y , et al. 1999
RBBP7 retinoblastoma binding protein 7 5931 Q16576 IP; LC-MS/MS
Huttlin EL , et al. 2015
RCN3 reticulocalbin 3, EF-hand calcium binding domain 57333 Q96D15 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
SDCBP syndecan binding protein (syntenin) 6386 O00560 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TCF19 transcription factor 19 6941 Q9Y242 IP; LC-MS/MS
Huttlin EL , et al. 2015
TRIM27 tripartite motif-containing 27 5987 P14373 IP/WB
Fukushige S , et al. 2006
TRIM54 tripartite motif containing 54 57159 Q9BYV2 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TXNIP thioredoxin interacting protein 10628 Q9H3M7 IP; LC-MS/MS
Huttlin EL , et al. 2015
VAMP7 vesicle-associated membrane protein 7 6845 P51809 ChIP
Matarazzo MR , et al. 2006
ZBED1 zinc finger, BED-type containing 1 9189 O96006 IP; LC-MS/MS
Huttlin EL , et al. 2015
ZBTB46 Zinc finger and BTB domain-containing protein 46 140685 Q86UZ6 IP; LC-MS/MS
Huttlin EL , et al. 2015
ZNF219 zinc finger protein 219 51222 Q9P2Y4 IP; LC-MS/MS
Huttlin EL , et al. 2015
ZNF277 zinc finger protein 277 11179 Q9NRM2 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ZNF800 zinc finger protein 800 168850 Q2TB10 IP; LC-MS/MS
Huttlin EL , et al. 2015
Cdk2ap1 CDK2 (cyclin-dependent kinase 2)-associated protein 1 13445 O35207 ChIP
Deshpande AM , et al. 2009
Mecom MDS1 and EVI1 complex locus 14013 P14404 Y2H; IP/WB; Luciferase reporter assay
Spensberger D , et al. 2008
MECP2 methyl CpG binding protein 2 (Rett syndrome) 4204 P51608 IP; LC-MS/MS
Li R , et al. 2016
Nr6a1 nuclear receptor subfamily 6, group A, member 1 14536 Q64249 Y2H; GST; IP/WB
Gu P , et al. 2006
Pou5f1 POU domain, class 5, transcription factor 1 18999 P20263 ChIP; qRT-PCR
Gu P , et al. 2006

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