TBC1D5
Homo sapiens
Gene Name: TBC1 domain family, member 5
Aliases:
Chromosome No: 3
Chromosome Band: 3p24.3
Genetic Category: Rare Single Gene variant-Genetic association
Aliases:
Chromosome No: 3
Chromosome Band: 3p24.3
Genetic Category: Rare Single Gene variant-Genetic association
Summary Statistics:
ASD Reports: 10
Recent Reports: 3
Annotated variants: 8
Associated CNVs: 6
Evidence score: 2
ASD Reports: 10
Recent Reports: 3
Annotated variants: 8
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare single-gene CNVs in the TBC1D5 gene were observed multiple times among 996 individuals of European ancestry with ASD but not in 1,287 matched controls (Pinto et al., 2010).
Molecular Function
The encoded protein may act as a GTPase-activating protein for Rab family protein(s).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Highly Cited
AMPK-mediated AS160 phosphorylation in skeletal muscle is dependent on AMPK catalytic and regulatory subunits.
Highly Cited
Insulin stimulation of GLUT4 exocytosis, but not its inhibition of endocytosis, is dependent on RabGAP AS160.
Recent Recommendation
AS160 modulates aldosterone-stimulated epithelial sodium channel forward trafficking.
Recent Recommendation
The Rab GTPase-activating protein AS160 as a common regulator of insulin- and Galphaq-mediated intracellular GLUT4 vesicle distribution.
Recent Recommendation
Intracellular bacterial growth is controlled by a kinase network around PKB/AKT1.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN248C001
intergenic_variant
rs11409090
A>AT
40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets)
Discovery
