DLGAP3
Homo sapiens
Gene Name: DLG associated protein 3
Aliases: DAP3, SAPAP3
Chromosome No: 1
Chromosome Band: 1p34.3
Genetic Category: Functional-Genetic association-Rare single gene mutaiton-Rare single gene variant
Aliases: DAP3, SAPAP3
Chromosome No: 1
Chromosome Band: 1p34.3
Genetic Category: Functional-Genetic association-Rare single gene mutaiton-Rare single gene variant
Summary Statistics:
ASD Reports: 12
Recent Reports: 2
Annotated variants: 15
Associated CNVs: 1
Evidence score: 2
ASD Reports: 12
Recent Reports: 2
Annotated variants: 15
Associated CNVs: 1
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Deletion of DLGAP3 in mice results in increased anxiety and compulsive grooming behavior, which can be alleviated by a selective serotonin reuptake inhibitor, as well as defects in cortico-striatal synapses (Welch et al., 2007). Rare and common variants in the DLGAP3 have subsequently been shown to associate with obsessive-compulsive disorder (OCD) , Tourette Syndrome (TS), and pathological grooming behaviors in humans (Bienvenu et al., 2008; Zuchner et al., 2009; Crane et al., 2011).
Molecular Function
May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Cortico-striatal synaptic defects and OCD-like behaviours in Sapap3-mutant mice.
Positive Association
Family-based genetic association study of DLGAP3 in Tourette Syndrome.
TS
Positive Association
Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study.
Grooming disorders
Support
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
ASD
Support
Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population.
OCD
Support
Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics.
Support
Multiple rare SAPAP3 missense variants in trichotillomania and OCD.
OCD
Highly Cited
Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family.
Recent Recommendation
Double deletion of melanocortin 4 receptors and SAPAP3 corrects compulsive behavior and obesity in mice.
Recent Recommendation
Circuit-selective striatal synaptic dysfunction in the Sapap3 knockout mouse model of obsessive-compulsive disorder.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN550R002
inframe_insertion
c.442_443insGGCCAGCAGGGGCAG
p.Gly147_Ala148insGlyProAlaGlyAla
Unknown
Multiplex
GEN550R006
missense_variant
c.1816C>A
p.Pro606Thr
Unknown
Simplex for OCD; multi-generational for NDDs/NPDs
GEN550R007
missense_variant
c.2728A>G
p.Lys910Glu
Familial
Paternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN550C001
intron_variant
rs6662980
c.1386+5192T>A;c.1386+5192T>C
A/G
383 families containing 1,618 participants (32% metcriteria for grooming disorder, 65% met criteria for OCD)
Discovery
GEN550C002
downstream_gene_variant
rs4653109
A/G
383 families containing 1,618 participants (32% metcriteria for grooming disorder, 65% met criteria for OCD)
Discovery
GEN550C003
intron_variant
rs4652867
c.1108-1416C>A
T/G
383 families containing 1,618 participants (32% metcriteria for grooming disorder, 65% met criteria for OCD)
Discovery
GEN550C004
intron_variant
rs4652869
c.-134-5896A>C
T/G
383 families containing 1,618 participants (32% metcriteria for grooming disorder, 65% met criteria for OCD)
Discovery
GEN550C005
intron_variant
rs11264126
c.2001-7405C>T
A/G
289 TS trios (282 parent-proband trios and 7 parent-affected sibling trios)
Discovery
