PPP2R5C Gene - Protein Phosphatase 2 Regulatory Subunit B'Gamma
A regulatory subunit of protein phosphatase 2A (PP2A) involved in cell cycle control, signal transduction, and cancer.
Gene Information Card
| Symbol | PPP2R5C |
|---|---|
| Full Name | Protein Phosphatase 2 Regulatory Subunit B'Gamma |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.31 |
| NCBI Gene ID | 5527 ncbi.nlm.nih.gov/gene/5527 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q13362 |
| OMIM ID | 601645 |
| HGNC ID | 9310 |
| Aliases | B56gamma, PP2A B subunit B56-gamma, PR61G |
Description
PPP2R5C encodes a regulatory subunit of protein phosphatase 2A (PP2A), one of the major serine/threonine phosphatases. The B'gamma (B56gamma) subunit determines substrate specificity and subcellular localization of the PP2A holoenzyme. It plays critical roles in cell cycle progression, DNA damage response, Wnt signaling, and apoptosis. Alterations in PPP2R5C are associated with various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | Deregulation of PP2A activity via PPP2R5C mutations or altered expression promotes oncogenic signaling | PMID: 25605274 |
| Breast cancer | PPP2R5C loss-of-function mutations impair PP2A tumor suppressor activity | PMID: 29700349 |
| Colorectal cancer | PPP2R5C overexpression correlates with poor prognosis and Wnt pathway activation | PMID: 28424480 |
| Intellectual disability | De novo missense variants in PPP2R5C disrupt PP2A function and neuronal development | PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 7.1 | Low |
| Colon | 9.8 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | High expression |
| HeLa | 11.2 | Moderate expression |
| A549 | 9.8 | Low expression |
| MCF7 | 8.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.434C>T (p.Pro145Leu) | Missense | <0.01% | Loss of function; associated with intellectual disability |
| c.1003G>A (p.Glu335Lys) | Missense | <0.01% | Dominant negative effect on PP2A activity |
| c.1261_1262del (p.Gln421fs) | Frameshift | <0.01% | Loss of function; found in lung cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein lacking regulatory function.
Gain of Function (GOF)
Not well documented; overexpression may contribute to oncogenesis in some cancers.
Dominant Negative (DN)
Missense variants (e.g., p.Glu335Lys) disrupt PP2A holoenzyme assembly and function.
View complete mutation data：
Gene Ontology (GO)
| • protein phosphatase type 2A complex (GO:0000159) | • protein binding (GO:0005515) |
| • protein phosphatase regulator activity (GO:0008601) | • cell cycle (GO:0007049) |
| • cell proliferation (GO:0008283) | • dephosphorylation (GO:0016311) |
Pathways
• PP2A-mediated dephosphorylation (Reactome: R-HSA-1632852)
• Wnt signaling pathway (KEGG: hsa04310)
• Cell cycle (KEGG: hsa04110)
• DNA damage response (Reactome: R-HSA-73894)
Protein Summary
PPP2R5C encodes the B56gamma regulatory subunit of protein phosphatase 2A (PP2A). This subunit directs PP2A to specific substrates, including those involved in cell cycle control, DNA repair, and signal transduction. The protein contains a conserved B56 domain that mediates interaction with the PP2A catalytic and scaffold subunits. Dysregulation of PPP2R5C expression or function contributes to tumorigenesis and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP2R5C Knockout HEK293 Cell Line | EDJ-KQ856 | Human | 5527 | Details Get a Quote |
| PPP2R5C Knockout A-549 Cell Line | EDJ-KQ19656 | Human | 5527 | Details Get a Quote |
| PPP2R5C Knockout HCT 116 Cell Line | EDJ-KQ19657 | Human | 5527 | Details Get a Quote |
| PPP2R5C Knockout HeLa Cell Line | EDJ-KQ19658 | Human | 5527 | Details Get a Quote |
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