DIAPH3
Homo sapiens
Gene Name: Diaphanous-related formin 3
Aliases: RP11-26P21.1, AN, AUNA1, DIA2, DRF3, NSDAN, diap3, mDia2
Chromosome No: 13
Chromosome Band: 13q21.2
Genetic Category: Rare Single Gene variant-Genetic association
Aliases: RP11-26P21.1, AN, AUNA1, DIA2, DRF3, NSDAN, diap3, mDia2
Chromosome No: 13
Chromosome Band: 13q21.2
Genetic Category: Rare Single Gene variant-Genetic association
Summary Statistics:
ASD Reports: 16
Recent Reports: 5
Annotated variants: 11
Associated CNVs: 16
Evidence score: 2
ASD Reports: 16
Recent Reports: 5
Annotated variants: 11
Associated CNVs: 16
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the DIAPH3 gene have been identified with autism (Vorstman et al., 2011).
Molecular Function
Actin-nucleating protein involved in the process of neurite outgrowth.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Epilepsy
ADHD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort
Epilepsy/seizures
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Highly Cited
The Rho family GTPase Rif induces filopodia through mDia2.
Highly Cited
Control of the assembly of ATP- and ADP-actin by formins and profilin.
Recent Recommendation
Lack of Diaph3 relaxes the spindle checkpoint causing the loss of neural progenitors.
Recent Recommendation
Ubiquitin-mediated degradation of the formin mDia2 upon completion of cell division.
Recent Recommendation
Defining mechanisms of actin polymerization and depolymerization during dendritic spine morphogenesis.
Recent Recommendation
WAVE and Arp2/3 jointly inhibit filopodium formation by entering into a complex with mDia2.
Recent Recommendation
Novel roles of formin mDia2 in lamellipodia and filopodia formation in motile cells.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN064R001b
missense_variant
c.1840C>A
p.Pro614Thr
Familial
Paternal
Simplex
GEN064R004
frameshift_variant
c.3055dup
p.Arg1019LysfsTer14
Familial
Paternal
Multiplex
GEN064R009
frameshift_variant
c.878_879del
p.Ser293CysfsTer12
Familial
Maternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN064C001
allele
chr13_60161890_I
7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection
Discovery
