PPP2R3B

Chr Y

protein phosphatase 2 regulatory subunit B''beta

ENSG00000292327UniProt: Q9Y5P8

The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.89
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

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?
0.89LOEUF
pLI 0.000
Z-score 1.99
OE 0.59 (0.40–0.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-1.40Z-score
OE missense 1.22 (1.12–1.32)
407 obs / 334.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.59 (0.40–0.89)
0≤0.351.4
Missense OE?1.22 (1.12–1.32)
0≤0.61.4
Synonymous OE?1.42
0≤1.21.6
LoF obs/exp: 16 / 27.2Missense obs/exp: 407 / 334.7Syn Z: -4.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PPP2R3B · 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