PPP2R5E
Protein Phosphatase 2 Regulatory Subunit B'Epsilon
Gene Information Card
| Symbol | PPP2R5E |
|---|---|
| Full Name | Protein Phosphatase 2 Regulatory Subunit B'Epsilon |
| Gene Type | protein-coding |
| Chromosomal Location | 14q23.2 |
| NCBI Gene ID | 5529 ncbi.nlm.nih.gov/gene/5529 |
| Ensembl ID | ENSG00000100842 |
| UniProt ID | Q16537 |
| OMIM ID | 601647 |
| HGNC ID | 9312 |
| Aliases | B56E, B56epsilon, PP2A B subunit B56-epsilon |
Description
PPP2R5E encodes the epsilon isoform of the B56 regulatory subunit of protein phosphatase 2A (PP2A). PP2A is a major serine/threonine phosphatase involved in cell cycle regulation, signal transduction, and apoptosis. The B56 subunit directs PP2A holoenzyme substrate specificity and subcellular localization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder with microcephaly and hypotonia | Loss-of-function variants in PPP2R5E impair PP2A holoenzyme assembly, disrupting neuronal signaling and development | ClinVar, OMIM |
| Lung cancer | Altered PPP2R5E expression may contribute to aberrant PP2A activity in tumorigenesis | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 10.8 | Medium |
| Heart | 7.5 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.1 | Moderate expression |
| HeLa | 9.8 | Moderate expression |
| A549 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Loss of function; truncation of B56 epsilon |
| c.632A>G (p.Tyr211Cys) | Missense | <0.01% | Unknown; predicted damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants that truncate the protein or disrupt the PP2A binding interface lead to loss of regulatory function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense variants that alter substrate binding may act in a dominant-negative manner by sequestering PP2A core enzyme.
View complete mutation data：
Gene Ontology (GO)
| • protein phosphatase regulator activity | • protein binding |
| • signal transduction | • cell cycle |
| • negative regulation of cell proliferation |
Pathways
• PP2A-mediated dephosphorylation
• Cell cycle: G1/S transition
• Wnt signaling pathway
Protein Summary
PPP2R5E encodes the B56 epsilon regulatory subunit of PP2A. This 56 kDa protein contains a conserved B56 domain that mediates interaction with the PP2A catalytic and scaffolding subunits. It targets PP2A to specific substrates such as AKT, p53, and beta-catenin, regulating cell growth and survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP2R5E Knockout HEK293 Cell Line | EDJ-KQ859 | Human | 5529 | Details Get a Quote |
| PPP2R5E Knockout A-549 Cell Line | EDJ-KQ19661 | Human | 5529 | Details Get a Quote |
| PPP2R5E Knockout HeLa Cell Line | EDJ-KQ19663 | Human | 5529 | Details Get a Quote |
| PPP2R5E Knockout HCT 116 Cell Line | EDJ-KQ71160 | Human | 5529 | Details Get a Quote |
| PPP2R5E Knockout HAP1 Cell Line | EDC08318 | Human | 5529 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
