SFRP5

Chr 10

secreted frizzled related protein 5

Also known as: SARP3

NCBI Gene: 6425ENSG00000120057UniProt: Q5T4F7OMIM: 604158

Secreted frizzled-related protein 5 (SFRP5) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. SFRP5 and SFRP1 may be involved in determining the polarity of photoreceptor cells in the retina. SFRP5 is highly expressed in the retinal pigment epithelium, and moderately expressed in the pancreas. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
35
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.43
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.43LOEUF
pLI 0.000
Z-score 0.53
OE 0.83 (0.50–1.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.63Z-score
OE missense 0.87 (0.76–0.99)
161 obs / 185.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.83 (0.50–1.43)
0≤0.351.4
Missense OE?0.87 (0.76–0.99)
0≤0.61.4
Synonymous OE?0.76
0≤1.21.6
LoF obs/exp: 9 / 10.9Missense obs/exp: 161 / 185.2Syn Z: 1.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SFRP5 · 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