ARHGAP33
Homo sapiens
Gene Name: Rho GTPase activating protein 33
Aliases: NOMA-GAP, SNX26, TCGAP
Chromosome No: 19
Chromosome Band: 19q13.12
Genetic Category: Functional-Rare single gene variant
Aliases: NOMA-GAP, SNX26, TCGAP
Chromosome No: 19
Chromosome Band: 19q13.12
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 1
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 1
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A mouse model with a loss-of-function mutation in the ARHGAP33 gene exhibited altered social behavior and dendritic spine and synapse development (Schuster et al., 2015).
Molecular Function
This gene encodes a member of the sorting nexin family. Members of this family are involved in intracellular trafficking.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
NOMA-GAP/ARHGAP33 regulates synapse development and autistic-like behavior in the mouse.
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
DD, epilepsy/seizures
Support
Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN713R001a
missense_variant
c.1495G>A
p.Val499Met
Familial
Both parents
Multiplex
GEN713R002
frameshift_variant
c.3166_3167del
p.His1056Ter
Familial
Paternal
Multiplex
Common
No Common Variants Available