SPINK7

Chr 5

serine peptidase inhibitor Kazal type 7

Also known as: ECG2, ECRG2

NCBI Gene: 84651ENSG00000145879UniProt: P58062

Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to act upstream of or within inflammatory response and negative regulation of cytokine production involved in inflammatory response. Predicted to be located in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.42
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?
1.42LOEUF
pLI 0.078
Z-score 1.02
OE 0.47 (0.19–1.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.04Z-score
OE missense 1.02 (0.80–1.31)
45 obs / 44.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.47 (0.19–1.42)
0≤0.351.4
Missense OE?1.02 (0.80–1.31)
0≤0.61.4
Synonymous OE?1.25
0≤1.21.6
LoF obs/exp: 2 / 4.3Missense obs/exp: 45 / 44.2Syn Z: -0.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPINK7 · 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