DLGAP2
Homo sapiens
Gene Name: discs, large (Drosophila) homolog-associated protein 2
Aliases: DAP2; SAPAP2
Chromosome No: 8
Chromosome Band: 8p23.3
Genetic Category: Rare Single Gene variant-Rare single gene variant/Genetic assoication-Multigenic CNV
Aliases: DAP2; SAPAP2
Chromosome No: 8
Chromosome Band: 8p23.3
Genetic Category: Rare Single Gene variant-Rare single gene variant/Genetic assoication-Multigenic CNV
Summary Statistics:
ASD Reports: 18
Recent Reports: 3
Annotated variants: 36
Associated CNVs: 8
Evidence score: 3
ASD Reports: 18
Recent Reports: 3
Annotated variants: 36
Associated CNVs: 8
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the DLGAP2 gene have been identified with autism. In separate studies, de novo duplications were found in patients with ASD (Marshall et al., 2008; Pinto et al., 2010).
Molecular Function
The encoded protein is a membrane-associated guanylate kinase localized at the post-synaptic density in neuronal cells.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Structural variation of chromosomes in autism spectrum disorder.
ASD
Support
Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders.
ASD
Support
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees
ASD
Support
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
Resequencing and Association Analysis of Six PSD-95-Related Genes as Possible Susceptibility Genes for Schizophrenia and Autism Spectrum Disorders.
ASD, SCZ
Support
Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
ASD, ADHD
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Support
Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy
ASD
Highly Cited
Distinct spatiotemporal expression of SAPAP transcripts in the developing rat brain: a novel dendritically localized mRNA.
Recent Recommendation
Computational and experimental identification of novel human imprinted genes.
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN066R010
missense_variant
c.2209G>C
p.Ala737Pro
Familial
Extended multiplex (at least one pair of ASD affec
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN066C001
intron_variant
rs2906569
c.-68-4A>G;c.242-4A>G
515 ASD cases and 596 controls of Han Chinese descent from Taiwan
Discovery
GEN066C002
missense_variant
rs2301963
c.1151C>A;c.1460C>A
p.Pro384Gln
515 ASD cases and 596 controls of Han Chinese descent from Taiwan
Discovery
