LPAR3

Chr 1

lysophosphatidic acid receptor 3

Also known as: EDG7, Edg-7, GPCR, HOFNH30, LP-A3, LPA3, RP4-678I3

NCBI Gene: 23566 ENSG00000171517 UniProt: Q9UBY5 OMIM: 605106

The encoded protein is a G protein-coupled receptor that binds lysophosphatidic acid and mediates calcium mobilization through G(q/11) signaling pathways. Mutations cause autosomal recessive hypotrichosis simplex, characterized by sparse hair growth from birth. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.593), suggesting intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the G protein-coupled receptor family, as well as the EDG family of proteins. This protein functions as a cellular receptor for lysophosphatidic acid and mediates lysophosphatidic acid-evoked calcium mobilization. This receptor couples predominantly to G(q/11) alpha proteins. [provided by RefSeq, Jul 2008]

OMIM 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

0.59

LOEUF

Multiple*

Mechanism· predicted