ADGRG5

Chr 16

adhesion G protein-coupled receptor G5

Also known as: GPR114, PGR27

NCBI Gene: 221188 ENSG00000159618 UniProt: Q8IZF4

ADGRG5 encodes an adhesion G-protein coupled receptor that couples to G(s) proteins and activates adenylate cyclase signaling. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe seizures, developmental delay, and brain malformations. The gene is highly constrained against loss-of-function variants (LOEUF 0.514), consistent with its essential role in early brain development.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the adhesion family of G-protein coupled receptors. Members of this family are characterized by long N-termini and multiple functional domains. They may play a role in the immune system as well as in the central nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

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)

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P/LP submissions

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P/LP missense

0.51

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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