PPP2R2D

Chr 10

protein phosphatase 2 regulatory subunit Bdelta

Also known as: B55D, B55delta, MDS026

NCBI Gene: 55844ENSG00000175470UniProt: Q66LE6

Predicted to enable enzyme-substrate adaptor activity and protein phosphatase regulator activity. Predicted to be involved in exit from mitosis and regulation of chromosome segregation. Predicted to be located in cytoplasm. Predicted to be part of protein phosphatase type 2A complex. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

Research Assistant →
0
Active trials
2
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.38
LOEUF
LOF
Mechanism· predicted
Clinical Summary— PPP2R2D
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.92). One damaged copy is likely sufficient to cause disease.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.38LOEUF
pLI 0.917
Z-score 3.35
OE 0.12 (0.05–0.38)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.14Z-score
OE missense 0.62 (0.54–0.71)
155 obs / 250.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.12 (0.05–0.38)
0≤0.351.4
Missense OE0.62 (0.54–0.71)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 2 / 16.8Missense obs/exp: 155 / 250.5Syn Z: -0.32
DN
0.4884th %ile
GOF
0.3986th %ile
LOF
0.69top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.38

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PPP2R2D · 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
MACE-Seq-based coding RNA and TrueQuant-based small RNA profile in breast cancer: tumor-suppressive miRNA-1275 identified as a novel marker
Majed SO et al.·BMC Cancer
2021
Identification of Radiation-Induced miRNA Biomarkers Using the CGL1 Cell Model System
Peterson J et al.·Bioengineering (Basel)
2022Functional
Predicting Key Genes and Therapeutic Molecular Modelling to Explain the Association between Porphyromonas gingivalis (P. gingivalis) and Alzheimer's Disease (AD)
Hamarsha A et al.·Int J Mol Sci
2023Functional
Protein Phosphatase 2A Regulates Phenotypic and Metabolic Alteration of Microglia Cells in HFD-Associated Vascular Dementia Mice via TNF-alpha/Arg-1 Axis.
Nematullah M et al.·Mol Neurobiol
2023
In-depth proteomics and Phosphoproteomics reveal biomarkers and molecular pathways of chronic intermittent hypoxia in mice.
Fang H et al.·J Proteomics
2024
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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