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.

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.

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Product name Cat.No. Species Gene ID
PPP1R26 Knockout HEK293 Cell Line EDJ-KQ6786 Human 9858 Details Get a Quote
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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
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PPP1R26 Knockout HeLa Cell Line EDJ-KQ31257 Human 9858 Details Get a Quote
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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
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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
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