Aliases: EP3, EP3-I, EP3-II, EP3-III, EP3-IV, EP3-VI, EP3e, PGE2-R
Chromosome No: 1
Chromosome Band: 1p31.1
Genetic Category: Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 6
Evidence score: 2
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Relevance to Autism
A homozygous deletion affecting the PTGER3 gene was identified in a female patient with ASD and moderate ID; both parents were heterozygous for the deletion (Nava et al., 2013).
Molecular Function
Receptor for prostaglandin E2 (PGE2); the EP3 receptor may be involved in inhibition of gastric acid secretion, modulation of neurotransmitter release in central and peripheral neurons, inhibition of sodium and water reabsorption in kidney tubulus and contraction in uterine smooth muscle. The activity of this receptor can couple to both the inhibition of adenylate cyclase mediated by G-I proteins, and to an elevation of intracellular calcium. The various isoforms have identical ligand binding properties but can interact with different second messenger systems.
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