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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.

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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
Integrating de novo and inherited variants in 42
ASD
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
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN554R001 
 stop_gained 
 c.219T>A 
 p.Tyr73Ter 
 De novo 
  
 Multiplex 
 GEN554R002 
 missense_variant 
 c.50G>T 
 p.Ser17Ile 
 De novo 
  
 Unknown 
 GEN554R003 
 stop_gained 
 c.219T>A 
 p.Tyr73Ter 
 De novo 
  
  
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
6
Duplication
 1
 
6
Deletion
 1
 
6
Duplication
 1
 
6
Deletion
 1
 
6
Deletion-Duplication
 7
 
6
Deletion
 4
 
6
Deletion
 3
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ACTBL2 actin, beta-like 2 345651 Q562R1 IP; LC-MS/MS
Huttlin EL , et al. 2015
LRP2 low density lipoprotein receptor-related protein 2 4036 P98164 IP; LC-MS/MS
Huttlin EL , et al. 2015
MEOX2 Homeobox protein MOX-2 4223 P50222 Y2H
Rual JF , et al. 2005
MEP1A meprin 1 alpha 17287 P28825 Peptide mapping
Bertenshaw GP , et al. 2001
PPP2R2D protein phosphatase 2, regulatory subunit B, delta 55844 Q66LE6 IP; LC-MS/MS
Huttlin EL , et al. 2015
PXDN peroxidasin homolog (Drosophila) 7837 Q92626 IP; LC-MS/MS
Huttlin EL , et al. 2015
SGTA small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha 6449 O43765 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
UBQLN4 ubiquilin 4 56893 Q9NRR5 Y2H; IP/WB
Lim J , et al. 2006

MEOX2
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