GPRC5A

Chr 12

G protein-coupled receptor class C group 5 member A

Also known as: GPCR5A, PEIG-1, RAI3, RAIG1, TIG1

NCBI Gene: 9052ENSG00000013588UniProt: Q8NFJ5OMIM: 604138

This gene encodes a member of the type 3 G protein-coupling receptor family, characterized by the signature 7-transmembrane domain motif. The encoded protein may be involved in interaction between retinoid acid and G protein signalling pathways. Retinoic acid plays a critical role in development, cellular growth, and differentiation. This gene may play a role in embryonic development and epithelial cell differentiation. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
27
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.63
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.63LOEUF
pLI 0.000
Z-score 0.00
OE 1.00 (0.63–1.63)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.62Z-score
OE missense 1.12 (1.01–1.25)
233 obs / 207.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.00 (0.63–1.63)
0≤0.351.4
Missense OE?1.12 (1.01–1.25)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 11 / 11.0Missense obs/exp: 233 / 207.9Syn Z: -0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GPRC5A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients