SPINK6

Chr 5

serine peptidase inhibitor Kazal type 6

Also known as: BUSI2, UNQ844

NCBI Gene: 404203ENSG00000178172UniProt: Q6UWN8

The protein encoded by this gene is a Kazal-type serine protease inhibitor that acts on kallikrein-related peptidases in the skin. Two transcript variants the same protein have been found for this gene. [provided by RefSeq, Aug 2010]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.95
LOEUF
DN
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?
1.95LOEUF
pLI 0.000
Z-score -1.39
OE 1.69 (0.90–1.95)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.38Z-score
OE missense 1.16 (0.92–1.48)
48 obs / 41.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.69 (0.90–1.95)
0≤0.351.4
Missense OE?1.16 (0.92–1.48)
0≤0.61.4
Synonymous OE?0.78
0≤1.21.6
LoF obs/exp: 8 / 4.7Missense obs/exp: 48 / 41.2Syn Z: 0.66

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPINK6 · 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