SPINK2

Chr 4AR

serine peptidase inhibitor Kazal type 2

Also known as: HUSI-II, SPGF29

This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Spermatogenic failure 29MIM #618091
AR
0
Active trials
12
Pubs (1 yr)
P/LP submissions
P/LP missense
1.49
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.49LOEUF
pLI 0.070
Z-score 0.93
OE 0.50 (0.201.49)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.66Z-score
OE missense 0.71 (0.530.97)
30 obs / 42.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.201.49)
00.351.4
Missense OE?0.71 (0.530.97)
00.61.4
Synonymous OE?0.89
01.21.6
LoF obs/exp: 2 / 4.0Missense obs/exp: 30 / 42.1Syn Z: 0.36

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SPINK2 · 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 →