PPP2R2C Gene - Protein Phosphatase 2 Regulatory Subunit B Gamma
A regulatory subunit of protein phosphatase 2A (PP2A) involved in cell cycle control and signaling
Gene Information Card
| Symbol | PPP2R2C |
|---|---|
| Full Name | Protein Phosphatase 2 Regulatory Subunit B Gamma |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 5522 ncbi.nlm.nih.gov/gene/5522 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | Q9Y2T4 |
| OMIM ID | 605997 |
| HGNC ID | 9308 |
| Aliases | B55gamma, PP2A-B55gamma, PR55gamma |
Description
PPP2R2C encodes the gamma isoform of the regulatory B55 subunit of protein phosphatase 2A (PP2A). PP2A is a major serine/threonine phosphatase that regulates diverse cellular processes including cell cycle progression, signal transduction, and apoptosis. The B55 regulatory subunit determines substrate specificity and subcellular localization of the PP2A holoenzyme. PPP2R2C is expressed predominantly in brain and testis, and its dysregulation has been implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | Altered PP2A activity due to PPP2R2C downregulation may promote tumor growth | COSMIC, literature |
| Breast cancer | Loss of PPP2R2C expression correlates with poor prognosis and increased proliferation | COSMIC, literature |
| Neurodevelopmental disorders | Rare variants in PPP2R2C associated with intellectual disability and autism spectrum disorder | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.3 | Medium |
| Heart | 2.1 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| A549 (lung carcinoma) | 6.7 | Moderate expression |
| MCF7 (breast cancer) | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown; predicted damaging |
| c.1003G>A (p.Gly335Arg) | Missense | <0.01% | Unknown; predicted damaging |
| c.1246C>T (p.Arg416*) | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • GO:0000159 - protein phosphatase type 2A complex | • GO:0005515 - protein binding |
| • GO:0006470 - protein dephosphorylation | • GO:0008283 - cell proliferation |
| • GO:0043169 - cation binding |
Pathways
• hsa04110 - Cell cycle
• hsa04115 - p53 signaling pathway
• hsa04010 - MAPK signaling pathway
• hsa04722 - Neurotrophin signaling pathway
Protein Summary
PPP2R2C encodes the B55 gamma regulatory subunit of PP2A. This 447-amino acid protein contains a calcium-binding EF-hand domain and mediates substrate recognition. It is highly expressed in brain and testis, and plays a role in neuronal differentiation, synaptic plasticity, and cell cycle control. Mutations and altered expression are linked to cancer and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP2R2C Knockout HEK293 Cell Line | EDJ-KQ1372 | Human | 5522 | Details Get a Quote |
| PPP2R2C Knockout A-549 Cell Line | EDJ-KQ20869 | Human | 5522 | Details Get a Quote |
| PPP2R2C Knockout HCT 116 Cell Line | EDJ-KQ20870 | Human | 5522 | Details Get a Quote |
| PPP2R2C Knockout HeLa Cell Line | EDJ-KQ20871 | Human | 5522 | Details Get a Quote |
| PPP2R2C Knockout HAP1 Cell Line | EDC08111 | Human | 5522 | Details Get a Quote |
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