SPINK13

Chr 5

serine peptidase inhibitor Kazal type 13

Also known as: HBVDNAPTP1, HESPINTOR, LiESP6, SPINK5L3

NCBI Gene: 153218ENSG00000214510UniProt: Q1W4C9

Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of acrosome reaction. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.77
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?
1.77LOEUF
pLI 0.000
Z-score 0.11
OE 0.95 (0.49–1.77)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.22Z-score
OE missense 1.09 (0.87–1.36)
55 obs / 50.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.95 (0.49–1.77)
0≤0.351.4
Missense OE?1.09 (0.87–1.36)
0≤0.61.4
Synonymous OE?0.64
0≤1.21.6
LoF obs/exp: 5 / 5.3Missense obs/exp: 55 / 50.7Syn Z: 1.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPINK13 · 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