GPR162

Chr 12

G protein-coupled receptor 162

Also known as: A-2, GRCA

NCBI Gene: 27239 ENSG00000250510 UniProt: Q16538

GPR162 encodes an orphan G-protein coupled receptor that is primarily expressed in the brain, though its specific function remains unknown. Mutations in this gene cause autosomal recessive developmental and epileptic encephalopathy with severe intellectual disability and early-onset seizures. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.659), consistent with its role in neurodevelopment.

ResearchSummary from RefSeq, UniProt

This gene was identified upon genomic analysis of a gene-dense region at human chromosome 12p13. It appears to be mainly expressed in the brain; however, its function is not known. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.66

LOEUF

Multiple*

Mechanism· predicted