SPINK9

Chr 5

serine peptidase inhibitor Kazal type 9

Also known as: LEKTI2

The protein encoded by this gene is a Kazal-type serine protease inhibitor that appears to specifically target kallikrein-related peptidase 5 (KLK5) in the palmo-plantar epidermis. KLK5 is an important initiator of skin desquamation, so the encoded protease inhibitor may regulate skin differentiation in the palms of hands and soles of feet. This cationic protein has also been shown to promote keratinocyte migration by activation of the epidermal growth factor receptor (EGFR). [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.59
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.59LOEUF
pLI 0.016
Z-score 0.68
OE 0.66 (0.301.59)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.26Z-score
OE missense 0.89 (0.691.16)
40 obs / 44.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.66 (0.301.59)
00.351.4
Missense OE?0.89 (0.691.16)
00.61.4
Synonymous OE?0.90
01.21.6
LoF obs/exp: 3 / 4.6Missense obs/exp: 40 / 44.9Syn Z: 0.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SPINK9 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →