PPP3CB

Chr 10

protein phosphatase 3 catalytic subunit beta

Also known as: CALNA2, CALNB, CNA2, PP2Bbeta

NCBI Gene: 5532ENSG00000107758UniProt: P16298OMIM: 114106

Enables several functions, including calmodulin binding activity; calmodulin-dependent protein phosphatase activity; and protein phosphatase 2B binding activity. Involved in several processes, including calcineurin-NFAT signaling cascade; positive regulation of lysosome organization; and positive regulation of protein localization to nucleus. Located in cytosol. Part of calcineurin complex. Implicated in aortic valve stenosis. Biomarker of focal segmental glomerulosclerosis and schizophrenia. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.10
LOEUF· LoF intol.
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.10LOEUF
pLI 1.000
Z-score 5.11
OE 0.00 (0.00–0.10)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
3.79Z-score
OE missense 0.36 (0.30–0.42)
100 obs / 278.0 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.10)
0≤0.351.4
Missense OE?0.36 (0.30–0.42)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 0 / 30.4Missense obs/exp: 100 / 278.0Syn Z: 0.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PPP3CB · 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