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Relevance to Autism

Genetic association has been found between the PTGS2 gene and autism in a Korean population cohort (Yoo et al., 2008).

Molecular Function

The encoded protein is a key enzyme for prostaglandin synthesis. It has prostagl andin-endoperoxide synthase activity.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association between PTGS2 polymorphism and autism spectrum disorders in Korean trios.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Highly Cited
COX-2, a synaptically induced enzyme, is expressed by excitatory neurons at postsynaptic sites in rat cerebral cortex.
Highly Cited
Suppression of intestinal polyposis in Apc delta716 knockout mice by inhibition of cyclooxygenase 2 (COX-2).
Recent Recommendation
Autism-related behaviors in the cyclooxygenase-2-deficient mouse model.
Recent Recommendation
PGE2 glycerol ester, a COX-2 oxidative metabolite of 2-arachidonoyl glycerol, modulates inhibitory synaptic transmission in mouse hippocampal neurons.
Recent Recommendation
Contribution of inducible nitric oxide synthase and cyclooxygenase-2 to apoptosis induction in smooth chorion trophoblast cells of human fetal memb...
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN205R001 
 synonymous_variant 
 c.1731C>T 
 p.Val577= 
 De novo 
  
  
 GEN205R002 
 inframe_deletion 
 c.1613_1615del 
 p.Gly538del 
 De novo 
  
 Simplex 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
1
Duplication
 49
 
1
Deletion
 3
 
1
Deletion
 3
 
1
Deletion
 1
 
1
Deletion
 3
 
1
Deletion-Duplication
 19
 

Model Summary

Mutants show increased ambulatory activity, increased repetitive digging, and increased anxiety. Changes in gene expression are also evident, especially in males.

References

Type
Title
Author, Year
Primary
Autism-related behaviors in the cyclooxygenase-2-deficient mouse model.
Model Type: Genetic
Model Genotype: Homozygous
Mutation: Ptgs2^Y385F (also known as Ptgs^2tm1.1Fun) mice are a genetic mouse model for selective COX2 (i.e., PTGS2) inactivation, which was created by a targeted point mutation of the Ptgs2 gene, resulting in a Y385F amino acid substitution, which results in the complete inhibition of COX2 activity (Yu et al., 2006).
Allele Type: LOF Knockin
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source: Jackson Laboratory
Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity: ambulatory activity1
Increased
 Open field test
 4-6 weeks
Grip strength1
Decreased
 Inverted grid test
 4-6 weeks
General locomotor activity: ambulatory activity1
Increased
 Open field test
 8-11 weeks
Repetitive digging1
Increased
 Marble-burying test
 4-6 weeks
Repetitive digging1
Increased
 Marble-burying test
 8-11 weeks
Social approach1
Decreased
 Three-chamber social approach test
 8-11 weeks
Anxiety1
Increased
 Open field test
 8-11 weeks
Gene expression1
Increased
 Quantitative pcr (qrt-pcr)
 P8
Gene expression1
Decreased
 Quantitative pcr (qrt-pcr)
 P8
Gene expression1
Decreased
 Quantitative pcr (qrt-pcr)
 P8
Anxiety1
 No change
 Open field test
 4-6 weeks
Anxiety1
 No change
 Open field test
 8-11 weeks
Gene expression1
 No change
 Quantitative pcr (qrt-pcr)
 P8
Grip strength1
 No change
 Inverted grid test
 4-6 weeks
Grip strength1
 No change
 Inverted grid test
 8-11 weeks
Social approach1
 No change
 Three-chamber social approach test
 4-6 weeks
Social approach1
 No change
 Three-chamber social approach test
 8-11 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Learning & memory, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Seizure, Sensory





Download PTGS2's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
LMAN2L lectin, mannose-binding 2-like 81562 Q9H0V9 IP; LC-MS/MS
Huttlin EL , et al. 2015
MIR101-1 microRNA 101-1 406893 Luciferase reporter assay
Shao Y , et al. 2015

MIR101-1
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