RSPO3

Chr 6

R-spondin 3

Also known as: CRISTIN1, PWTSR, THSD2

NCBI Gene: 84870ENSG00000146374UniProt: Q9BXY4

This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development. [provided by RefSeq, Jul 2013]

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.
1
Active trials
57
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.60
LOEUF
DN
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?
0.60LOEUF
pLI 0.089
Z-score 2.75
OE 0.29 (0.15–0.60)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.02Z-score
OE missense 0.76 (0.65–0.89)
107 obs / 141.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.29 (0.15–0.60)
0≤0.351.4
Missense OE?0.76 (0.65–0.89)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 5 / 17.4Missense obs/exp: 107 / 141.0Syn Z: 0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RSPO3 · 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