GPRC5D

Chr 12

G protein-coupled receptor class C group 5 member D

NCBI Gene: 55507ENSG00000111291UniProt: Q9NZD1

The protein encoded by this gene is a member of the G protein-coupled receptor family; however, the specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
5
Active trials
155
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.90
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.90LOEUF
pLI 0.001
Z-score 1.85
OE 0.48 (0.27–0.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.62Z-score
OE missense 0.87 (0.77–0.99)
168 obs / 192.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.48 (0.27–0.90)
0≤0.351.4
Missense OE?0.87 (0.77–0.99)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 7 / 14.6Missense obs/exp: 168 / 192.3Syn Z: -0.93

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GPRC5D · protein map & ClinVar variants

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

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