AGAP1
Homo sapiens
Gene Name: ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
Aliases: AGAP-1,CENTG2, GGAP1, cnt-g2
Chromosome No: 2
Chromosome Band: 2q37.2
Genetic Category: Rare Single Gene variant, Genetic Association-Rare single gene variant-Rare single gene variant/Functional
Aliases: AGAP-1,CENTG2, GGAP1, cnt-g2
Chromosome No: 2
Chromosome Band: 2q37.2
Genetic Category: Rare Single Gene variant, Genetic Association-Rare single gene variant-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 10
Recent Reports: 3
Annotated variants: 17
Associated CNVs: 8
Evidence score: 2
ASD Reports: 10
Recent Reports: 3
Annotated variants: 17
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Rare variants in the AGAP1 gene have been identified with autism (Wassink et al., 2005).
Molecular Function
This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene.
ASD
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Highly Cited
AGAP1, an endosome-associated, phosphoinositide-dependent ADP-ribosylation factor GTPase-activating protein that affects actin cytoskeleton.
Recent Recommendation
AGAP1, a novel binding partner of nitric oxide-sensitive guanylyl cyclase.
Recent Recommendation
The Endosome Localized Arf-GAP AGAP1 Modulates Dendritic Spine Morphology Downstream of the Neurodevelopmental Disorder Factor Dysbindin.
Recent Recommendation
Mutational analysis of the Arf1*GTP/Arf GAP interface reveals an Arf1 mutant that selectively affects the Arf GAP ASAP1.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN047R007
synonymous_variant
c.1804C>T
p.Arg602Trp
Familial
Maternal
Multiplex
GEN047R011
missense_variant
c.574G>A
p.Asp192Asn
Familial
Extended multiplex (at least one pair of ASD affec
GEN047R012
synonymous_variant
c.570C>T
p.Ile190=
De novo
Unknown
Common
No Common Variants Available
