PPP6R2
Protein Phosphatase 6 Regulatory Subunit 2
Gene Information Card
| Symbol | PPP6R2 |
|---|---|
| Full Name | Protein Phosphatase 6 Regulatory Subunit 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 9701 ncbi.nlm.nih.gov/gene/9701 |
| Ensembl ID | ENSG00000100239 |
| UniProt ID | O75170 |
| OMIM ID | 613989 |
| HGNC ID | 14942 |
| Aliases | SAP190, PP6R2, FLJ10656 |
Description
PPP6R2 encodes a regulatory subunit of protein phosphatase 6 (PP6), a serine/threonine phosphatase involved in cell cycle regulation, DNA damage response, and chromatin remodeling. The protein contains a SAP domain that mediates interaction with PP6 catalytic subunit and targets the holoenzyme to specific substrates.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of PP6 complex leads to altered cell cycle and DNA repair | COSMIC; PMID: 23525077 |
| Breast cancer | Loss of PPP6R2 expression correlates with poor prognosis | PMID: 23525077 |
| Lung cancer | Mutations in PPP6R2 identified in tumor samples | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.1 | Low |
| Liver | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.0 | Cervical cancer cell line |
| A549 | 9.5 | Lung cancer cell line |
| MCF7 | 7.8 | Breast cancer cell line |
| HEK293 | 11.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.567_568insA (p.Glu190fs) | Frameshift | <0.1% | Loss of function |
| c.890A>G (p.Glu297Gly) | Missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing PP6 complex assembly and phosphatase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein phosphatase type 6 complex | • protein serine/threonine phosphatase activity |
| • SAP domain binding | • cell cycle |
| • DNA repair | • chromatin remodeling |
Pathways
• PP6 signaling pathway
• DNA damage response
• Cell cycle regulation
Protein Summary
PPP6R2 is a 1006-amino acid regulatory subunit of protein phosphatase 6. It contains an N-terminal SAP domain that binds to the PP6 catalytic subunit, directing the holoenzyme to substrates involved in cell cycle progression and DNA repair. The protein is widely expressed, with highest levels in testis and brain. Mutations and altered expression are associated with various cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP6R2 Knockout HEK293 Cell Line | EDJ-KQ6699 | Human | 9701 | Details Get a Quote |
| PPP6R2 Knockout A-549 Cell Line | EDJ-KQ31058 | Human | 9701 | Details Get a Quote |
| PPP6R2 Knockout HeLa Cell Line | EDJ-KQ31059 | Human | 9701 | Details Get a Quote |
| PPP6R2 Knockout HCT 116 Cell Line | EDJ-KQ29703 | Human | 9701 | Details Get a Quote |
| PPP6R2 Knockout HAP1 Cell Line | EDC08087 | Human | 9701 | Details Get a Quote |
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