SPOCK2

Chr 10

SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2

Also known as: testican-2

NCBI Gene: 9806ENSG00000107742UniProt: Q92563OMIM: 607988

This gene encodes a protein which binds with glycosaminoglycans to form part of the extracellular matrix. The protein contains thyroglobulin type-1, follistatin-like, and calcium-binding domains, and has glycosaminoglycan attachment sites in the acidic C-terminal region. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

OMIMResearchGenerating 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.
0
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.47
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.47LOEUF
pLI 0.241
Z-score 3.52
OE 0.24 (0.13–0.47)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.13Z-score
OE missense 0.80 (0.71–0.90)
199 obs / 249.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.24 (0.13–0.47)
0≤0.351.4
Missense OE?0.80 (0.71–0.90)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 6 / 24.9Missense obs/exp: 199 / 249.0Syn Z: -0.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPOCK2 · 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