Home > Gene Browser > PTGER4

PTGER4

Synonyms
EP4, EP4R
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 can activate T-cell factor signaling. It has been shown to mediate PGE2 induced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase kinase-3. Knockout studies in mice suggest that this receptor may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses.

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
552
Likely benign
217
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PTGER4 gene.

Phenotype class
Patients in 3billion (%)

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes