GPER1

Chr 7

G protein-coupled estrogen receptor 1

Also known as: CEPR, CMKRL2, DRY12, FEG-1, GPCR-Br, GPER, GPR30, LERGU

NCBI Gene: 2852 ENSG00000164850 UniProt: Q99527

This protein functions as a G-protein coupled estrogen receptor that binds 17-beta-estradiol and activates multiple intracellular signaling pathways including cAMP production, calcium mobilization, and PI3K/Akt signaling, with roles in cardiovascular, endocrine, reproductive, and nervous system functions. Mutations in this gene cause neurodevelopmental disorder with seizures and brain atrophy, which is inherited in an autosomal dominant pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.695), reflecting its importance in human development and function.

ResearchSummary from RefSeq, UniProt

This gene encodes a multi-pass membrane protein that localizes to the endoplasmic reticulum and a member of the G-protein coupled receptor 1 family. This receptor binds estrogen and activates multiple downstream signaling pathways, leading to stimulation of adenylate cyclase and an increase in cyclic AMP levels, while also promoting intracellular calcium mobilization and synthesis of phosphatidylinositol 3,4,5-trisphosphate in the nucleus. This protein therefore plays a role in the rapid nongenomic signaling events widely observed following stimulation of cells and tissues with estrogen. This receptor has been shown to play a role in diverse biological processes, including bone and nervous system development, metabolism, cognition, male fertility and uterine function. [provided by RefSeq, Aug 2017]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.69

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429