PPP2R2D
Protein Phosphatase 2 Regulatory Subunit B Delta
Gene Information Card
| Symbol | PPP2R2D |
|---|---|
| Full Name | Protein Phosphatase 2 Regulatory Subunit B Delta |
| Gene Type | protein-coding |
| Chromosomal Location | 10q26.3 |
| NCBI Gene ID | 55844 ncbi.nlm.nih.gov/gene/55844 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q66LE6 |
| OMIM ID | 605997 |
| HGNC ID | 9303 |
| Aliases | B55 delta, B55D, PP2A-B55-delta, PR55-delta |
Description
PPP2R2D encodes the delta isoform of the regulatory B55 subunit of protein phosphatase 2A (PP2A). PP2A is a major serine/threonine phosphatase involved in cell cycle regulation, signal transduction, and DNA damage response. The B55 regulatory subunit determines substrate specificity and subcellular localization of the PP2A holoenzyme.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual Disability (autosomal dominant) | De novo missense variants in PPP2R2D impair PP2A holoenzyme assembly and dephosphorylation of key substrates, leading to neurodevelopmental phenotypes. | ClinVar, PMID: 31036916 |
| Cancer (multiple types) | Altered expression or mutations in PPP2R2D disrupt PP2A tumor suppressor activity, affecting pathways such as PI3K/AKT and MAPK. | COSMIC, PMID: 29395054 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.2 | Medium |
| Heart | 6.1 | Medium |
| Liver | 3.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | High expression |
| HeLa | 7.3 | Medium expression |
| K562 | 5.6 | Medium expression |
| A549 | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166Gln) | Missense | <0.01% | Impaired PP2A binding, associated with intellectual disability |
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Reduced phosphatase activity, neurodevelopmental phenotype |
| c.688A>G (p.Thr230Ala) | Missense | <0.01% | Altered substrate specificity, reported in cancer |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg166Gln) reduce PP2A holoenzyme assembly and catalytic activity, leading to loss of tumor suppression and neurodevelopmental defects.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PPP2R2D.
Dominant Negative (DN)
Some variants (e.g., p.Pro35Leu) may act dominant-negatively by sequestering catalytic subunit into non-functional complexes.
View complete mutation data：
Gene Ontology (GO)
| • protein phosphatase regulator activity | • protein phosphatase 2A binding |
| • cell cycle | • negative regulation of cell proliferation |
| • signal transduction | • dephosphorylation |
Pathways
• PP2A-mediated dephosphorylation (Reactome: R-HSA-163615)
• Signaling by WNT (Reactome: R-HSA-195721)
• MAPK signaling (KEGG: hsa04010)
• PI3K-Akt signaling (KEGG: hsa04151)
Protein Summary
PPP2R2D encodes the B55 delta regulatory subunit of PP2A, a heterotrimeric serine/threonine phosphatase. The B55 subunit directs PP2A to specific substrates such as CDK1, AKT, and ERK, controlling cell cycle progression, growth, and differentiation. Mutations in PPP2R2D are linked to neurodevelopmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP2R2D Knockout HEK293 Cell Line | EDJ-KQ1373 | Human | 55844 | Details Get a Quote |
| PPP2R2D Knockout A-549 Cell Line | EDJ-KQ20872 | Human | 55844 | Details Get a Quote |
| PPP2R2D Knockout HCT 116 Cell Line | EDJ-KQ20873 | Human | 55844 | Details Get a Quote |
| PPP2R2D Knockout HeLa Cell Line | EDJ-KQ20874 | Human | 55844 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
