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 be involved in inflammatory response and negative regulation of proteolysis. Predicted to act upstream of or within negative regulation of cytokine production involved in inflammatory response. Predicted to be located in obsolete extracellular space. Predicted to be active in extracellular region. [provided by Alliance of Genome Resources, Jun 2026]

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