PPP2R3C Gene - Protein Phosphatase 2 Regulatory Subunit B''Gamma
A regulatory subunit of protein phosphatase 2A (PP2A) involved in cell cycle control and tumor suppression.
Gene Information Card
| Symbol | PPP2R3C |
|---|---|
| Full Name | Protein Phosphatase 2 Regulatory Subunit B''Gamma |
| Gene Type | protein-coding |
| Chromosomal Location | 14q13.2 |
| NCBI Gene ID | 55012 ncbi.nlm.nih.gov/gene/55012 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q969Q5 |
| OMIM ID | 612146 |
| HGNC ID | 9309 |
| Aliases | G5PR, PP2A B''gamma, PPP2R3C |
Description
PPP2R3C encodes a regulatory B'' subunit of protein phosphatase 2A (PP2A), a serine/threonine phosphatase that regulates diverse cellular processes including cell cycle progression, DNA replication, and signal transduction. The B''gamma subunit targets PP2A to specific substrates and subcellular locations, playing a critical role in maintaining genomic stability and suppressing tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | Altered PP2A activity due to PPP2R3C mutations may disrupt cell cycle control and promote proliferation. | COSMIC; PMID: 23535732 |
| Breast cancer | Loss of PPP2R3C expression correlates with poor prognosis and increased genomic instability. | NCBI Gene; PMID: 21502515 |
| Colorectal cancer | Somatic mutations in PPP2R3C identified in tumor samples, potentially affecting PP2A substrate specificity. | COSMIC; PMID: 22810696 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.3 | Medium |
| Brain | 6.1 | Low |
| Lung | 4.8 | Low |
| Breast | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in embryonic kidney cells |
| HeLa | 9.7 | Moderate expression in cervical cancer cells |
| A549 | 6.4 | Low expression in lung adenocarcinoma cells |
| MCF7 | 4.1 | Low expression in breast cancer cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01 | Unknown; predicted benign by PolyPhen-2 |
| c.457G>A (p.Glu153Lys) | Missense | <0.01 | Unknown; predicted possibly damaging by SIFT |
| c.784_785insA (p.Thr262Asnfs*12) | Frameshift | <0.001 | Loss of function; truncation of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr262Asnfs*12) lead to truncated protein lacking the PP2A-binding domain, impairing holoenzyme assembly and phosphatase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PPP2R3C.
Dominant Negative (DN)
Missense mutations in the PP2A-binding region may produce a dominant-negative effect by sequestering catalytic subunits into non-functional complexes.
View complete mutation data:
Gene Ontology (GO)
Pathways
• PP2A-mediated dephosphorylation (Reactome: R-HSA-163285)
• Cell cycle checkpoints (KEGG: hsa04110)
• Signaling by WNT (Reactome: R-HSA-195721)
Protein Summary
PPP2R3C (G5PR) is a 502-amino acid regulatory subunit of PP2A, containing a conserved B'' domain that mediates interaction with the PP2A core dimer. It localizes to the nucleus and cytoplasm, and is essential for PP2A activity toward substrates such as CDC25 and AKT. The protein is highly expressed in testis and lymph node, and its dysregulation is implicated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP2R3C Knockout HEK293 Cell Line | EDJ-KQ1748 | Human | 55012 | Details Get a Quote |
| PPP2R3C Knockout A-549 Cell Line | EDJ-KQ21617 | Human | 55012 | Details Get a Quote |
| PPP2R3C Knockout HCT 116 Cell Line | EDJ-KQ21618 | Human | 55012 | Details Get a Quote |
| PPP2R3C Knockout HeLa Cell Line | EDJ-KQ21619 | Human | 55012 | Details Get a Quote |
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