GPR139

Chr 16

G protein-coupled receptor 139

Also known as: GPRg1, PGR3

NCBI Gene: 124274 ENSG00000180269 UniProt: Q6DWJ6

This gene encodes a G-protein-coupled receptor of the rhodopsin family that is almost exclusively expressed in the central nervous system and appears to respond to L-tryptophan and L-phenylalanine through a G(q/11)-mediated pathway. Mutations in GPR139 cause autosomal recessive intellectual disability with seizures and behavioral abnormalities. The gene shows low constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the rhodopsin family of G-protein-coupled receptors. The encoded protein is almost exclusively expressed in the central nervous system. L-tryptophan and L-phenylalanine may act as the physiologic ligands of the encoded protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.87

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)