MBD4
Homo sapiens
Gene Name: methyl-CpG binding domain protein 4
Aliases: MED1
Chromosome No: 3
Chromosome Band: 3q21.3
Genetic Category: Rare Single Gene variant, Genetic Association-Rare single gene variant
Aliases: MED1
Chromosome No: 3
Chromosome Band: 3q21.3
Genetic Category: Rare Single Gene variant, Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 2
Annotated variants: 12
Associated CNVs: 0
Evidence score: 2
ASD Reports: 7
Recent Reports: 2
Annotated variants: 12
Associated CNVs: 0
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association and rare variants have been found in the MBD4 gene associated with autism in a Caucasian and African-American cohort (Cukier et al., 2010).
Molecular Function
The encoded protein forms a complex with MLH1, binds to methyl-CpG-containing DNA, has homology to bacterial DNA repair glycosylases/lyases, and displays endonuclease activity.
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
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Highly Cited
Enhanced CpG mutability and tumorigenesis in MBD4-deficient mice.
Highly Cited
The thymine glycosylase MBD4 can bind to the product of deamination at methylated CpG sites.
Recent Recommendation
DNA demethylation in hormone-induced transcriptional derepression.
Recent Recommendation
DNA demethylation in zebrafish involves the coupling of a deaminase, a glycosylase, and gadd45.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN154R001
frameshift_variant
delAAGA
p.Glu314fsTer316
Familial
Maternal
Simplex
GEN154R004
frameshift_variant
c.1426del
p.Leu476TrpfsTer9
Familial
Paternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN154C002
intron_variant
rs3138340
c.336-46C>G;c.247+454C>G
C to G
Discovery
GEN154C004
missense_variant
rs2307289
c.1024T>C;c.247+1188T>C
p.Ser342Pro
Discovery
GEN154C005
missense_variant
rs140693
c.1036G>A;c.247+1200G>A
p.Glu346Lys
Discovery
GEN154C006
missense_variant
rs2307298
c.1073T>C;c.247+1237T>C
p.Ile358Thr
Discovery
GEN154C007
intron_variant
rs3138341
c.1183+68T>G;c.1201+50T>G;c.247+1415T>G
T to G
Discovery
GEN154C008
synonymous_variant
rs140696
c.1395C>T;c.1413C>T;c.459C>T
p.(=)
Discovery
