LGR4

Chr 11AD

leucine rich repeat containing G protein-coupled receptor 4

Also known as: BNMD17, DPSL, GPR48

NCBI Gene: 55366 ENSG00000205213 UniProt: Q9BXB1 OMIM: 606666

This G-protein coupled receptor binds R-spondins and potentiates the canonical Wnt signaling pathway, which is essential for development of multiple organs including liver, kidney, intestine, bone, reproductive tract, and eye. Mutations cause autosomal dominant delayed puberty (self-limited) and susceptibility to low bone mineral density. The gene is highly constrained against loss-of-function variants (LOEUF 0.382), reflecting its critical role in organ development and hormonal regulation.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Bone mineral density, low, susceptibility to}MIM #615311

Delayed puberty, self-limitedMIM #619613

UniProtOsteoporosis

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

0.38

LOEUF

Multiple*

Mechanism· predicted