VIP
Homo sapiens
Gene Name: vasoactive intestinal peptide
Aliases: RP4-546K19.1, PHM27
Chromosome No: 6
Chromosome Band: 6q25.2
Genetic Category: Functional-Rare single gene variant
Aliases: RP4-546K19.1, PHM27
Chromosome No: 6
Chromosome Band: 6q25.2
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 7
Evidence score: 2
ASD Reports: 7
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
VIP antagonist treatment during mouse embryogenesis impairs social behavior and cognitive function of adult male offspring (Hill et al., 2007), and VIP-deficient mice exhibit select cognitive deficits (Chaudhury et al., 2008). A nonsense variant in VIP was identified in a male ASD proband and a younger male sibling exhibiting sub-clinical features of ASD (Jiang et al., 2013).
Molecular Function
The protein encoded by this gene belongs to the glucagon family. It stimulates myocardial contractility, causes vasodilation, increases glycogenolysis, lowers arterial blood pressure and relaxes the smooth muscle of trachea, stomach and gall bladder.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Vasoactive intestinal peptide antagonist treatment during mouse embryogenesis impairs social behavior and cognitive function of adult male offspring.
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Select cognitive deficits in vasoactive intestinal peptide deficient mice.
Support
Regardless of genotype, offspring of VIP-deficient female mice exhibit developmental delays and deficits in social behavior.
Support
Deficits in social behavior and reversal learning are more prevalent in male offspring of VIP deficient female mice.
Recent Recommendation
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
ASD
