PPP1R2 (Protein Phosphatase 1 Regulatory Inhibitor Subunit 2)
A key regulator of protein phosphatase 1 (PP1) activity, involved in glycogen metabolism, cell cycle, and signaling pathways.
Gene Information Card
| Symbol | PPP1R2 |
|---|---|
| Full Name | Protein Phosphatase 1 Regulatory Inhibitor Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 5504 ncbi.nlm.nih.gov/gene/5504 |
| Ensembl ID | ENSG00000163932 |
| UniProt ID | P41236 |
| OMIM ID | 601792 |
| HGNC ID | 9289 |
| Aliases | IPP-2, IPP2, PPP1R2A |
Description
PPP1R2 encodes the protein phosphatase 1 regulatory inhibitor subunit 2, a potent and specific inhibitor of protein phosphatase 1 (PP1). This protein binds to PP1 and inhibits its phosphatase activity, playing a critical role in regulating glycogen metabolism, cell cycle progression, and various signaling pathways. The gene is located on chromosome 3q29 and is widely expressed in human tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered PPP1R2 expression may disrupt PP1-mediated regulation of cell cycle and apoptosis, contributing to tumorigenesis. | COSMIC; literature review |
| Glycogen storage disease (potential) | Dysregulation of PP1 inhibition by PPP1R2 could impair glycogen metabolism, though direct disease association is not well established. | OMIM; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 15.2 | Medium |
| Skeletal Muscle | 20.1 | High |
| Kidney | 10.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | High expression |
| HeLa | 14.2 | Medium expression |
| K562 | 9.8 | Low expression |
| A549 | 11.5 | Medium expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of function; start codon loss |
| c.214C>T (p.Arg72Cys) | Missense | <0.01% | Unknown functional impact |
| c.307G>A (p.Gly103Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the PP1-binding domain or reduce protein stability may lead to loss of inhibitory function, potentially increasing PP1 activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data:
Gene Ontology (GO)
| • protein phosphatase inhibitor activity | • protein binding |
| • cytoplasm | • nucleus |
| • regulation of glycogen metabolic process | • negative regulation of phosphoprotein phosphatase activity |
Pathways
• Glycogen metabolism
• PP1 signaling
• Cell cycle regulation
Protein Summary
The PPP1R2 protein (also known as IPP-2) is a 22 kDa cytosolic and nuclear protein that specifically inhibits the catalytic subunit of protein phosphatase 1 (PP1). It contains a conserved PP1-binding motif (RVxF) and is regulated by phosphorylation. The protein plays a key role in controlling glycogen synthase activity and cell cycle progression by modulating PP1 activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP1R26 Knockout HEK293 Cell Line | EDJ-KQ6786 | Human | 9858 | Details Get a Quote |
| PPP1R27 Knockout HEK293 Cell Line | EDJ-KQ7580 | Human | 116729 | Details Get a Quote |
| PPP1R2C Knockout HEK293 Cell Line | EDJ-KQ8763 | Human | 80316 | Details Get a Quote |
| PPP1R21 Knockout HEK293 Cell Line | EDJ-KQ9212 | Human | 129285 | Details Get a Quote |
| PPP1R2B Knockout HEK293 Cell Line | EDJ-KQ11533 | Human | 153743 | Details Get a Quote |
| PPP1R26 Knockout A-549 Cell Line | EDJ-KQ31255 | Human | 9858 | Details Get a Quote |
| PPP1R26 Knockout HCT 116 Cell Line | EDJ-KQ31256 | Human | 9858 | Details Get a Quote |
| PPP1R26 Knockout HeLa Cell Line | EDJ-KQ31257 | Human | 9858 | Details Get a Quote |
| PPP1R21 Knockout A-549 Cell Line | EDJ-KQ35768 | Human | 129285 | Details Get a Quote |
| PPP1R21 Knockout HCT 116 Cell Line | EDJ-KQ35769 | Human | 129285 | Details Get a Quote |
| PPP1R21 Knockout HeLa Cell Line | EDJ-KQ35770 | Human | 129285 | Details Get a Quote |
| PPP1R2 Knockout HEK293 Cell Line | EDJ-KQ50533 | Human | 5504 | Details Get a Quote |
| PPP1R2 Knockout HeLa Cell Line | EDJ-KQ54193 | Human | 5504 | Details Get a Quote |
| PPP1R27 Knockout HeLa Cell Line | EDJ-KQ57996 | Human | 116729 | Details Get a Quote |
| PPP1R2 Knockout A-549 Cell Line | EDJ-KQ62687 | Human | 5504 | Details Get a Quote |