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PTGER3

Synonyms
EP3, EP3-I, EP3-II, EP3-III, EP3-IV, EP3-VI, EP3e, PGE2-R, lnc003875
External resources
Summary
The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor may have many biological functions, which involve digestion, nervous system, kidney reabsorption, and uterine contraction activities. Studies of the mouse counterpart suggest that this receptor may also mediate adrenocorticotropic hormone response as well as fever generation in response to exogenous and endogenous stimuli. Multiple transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
3,631
Likely benign
1,411
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PTGER3 gene.

Phenotype class
Patients in 3billion (%)

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