PI16

Chr 6

peptidase inhibitor 16

Also known as: CD364, CRISP9, MSMBBP, PSPBP

NCBI Gene: 221476ENSG00000164530UniProt: Q6UXB8

Predicted to enable peptidase inhibitor activity. Predicted to act upstream of or within negative regulation of cell growth involved in cardiac muscle cell development. Predicted to be located in extracellular region. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
41
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.31
LOEUF
GOF
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?
1.31LOEUF
pLI 0.000
Z-score 0.60
OE 0.84 (0.55–1.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.05Z-score
OE missense 0.82 (0.74–0.92)
227 obs / 276.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.84 (0.55–1.31)
0≤0.351.4
Missense OE?0.82 (0.74–0.92)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 14 / 16.7Missense obs/exp: 227 / 276.3Syn Z: 0.62

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PI16 · 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