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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PPP2R5C
protein phosphatase 2 regulatory subunit B'gamma
Chromosome 14 · 14q32.31
NCBI Gene: 5527Ensembl: ENSG00000078304.20HGNC: HGNC:9311UniProt: A0A8Q3WKR3
126PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusprotein phosphatase type 2A complexchromosome, centromeric regionprotein bindingcancerneurodegenerative diseasechronic myelogenous leukemiavertebral column disorder
✦AI Summary

PPP2R5C encodes the B56γ regulatory subunit of protein phosphatase 2A (PP2A), a trimer complex that opposes serine/threonine kinase signaling 1. As a regulatory subunit, PPP2R5C modulates substrate selectivity, catalytic activity, and subcellular localization of the PP2A holoenzyme, with roles in dephosphorylating and inactivating growth-promoting kinases in the PIK3CA/AKT/mTOR and RAS/MAPK pathways 1. PPP2R5C plays critical roles in cell proliferation, differentiation, and apoptosis; knockdown suppresses proliferation and induces apoptosis through altered MAPK, PI3K/AKT, and JAK/STAT pathway signaling 2. PPP2R5C is significantly overexpressed in multiple leukemia types and associated with malignant transformation in B-cell chr14 lymphocytic leukemia 3. Pathogenic variants in PPP2R5C cause Houge-Janssens syndrome type 4, characterized by neurodevelopmental delay, hypotonia, seizures, and behavioral problems 4. These variants predominantly affect substrate binding or catalytic subunit interaction, likely operating through dominant-negative mechanisms 4. PPP2R5C genetic variants also associate with residual disease in ovarian cancer 5, and a related long non-coding RNA (LincR-PPP2R5C) regulates IL-1β ubiquitination in COPD pathogenesis 6. PPP2R5C methylation status shows promise for colorectal cancer screening 7.

Sources cited
1
PP2A opposes growth-promoting kinases; PPP2R5C variants cause neurodevelopmental delay, hypotonia, seizures in Houge-Janssens syndrome type 4
PMID: 40555839
2
PPP2R5C variants affect substrate or catalytic subunit binding; cause HJS type 4 with neurodevelopmental delay, epilepsy, milder intellectual disability than other HJS types
PMID: 39978342
3
PPP2R5C knockdown suppresses proliferation and induces apoptosis through altered MAPK, PI3K/AKT, JAK/STAT pathway signaling
PMID: 25888193
4
PPP2R5C is significantly overexpressed in AML, CML, T-ALL, B-CLL; involved in cell proliferation and differentiation
PMID: 21548944
5
PPP2R5C variants associate with residual disease in high-grade serous ovarian cancer; mRNA levels predict progression-free survival
PMID: 38443389
6
LincR-PPP2R5C regulates IL-1β ubiquitination through PP2A activity in COPD pathogenesis
PMID: 39018689
7
PPP2R5C gene methylation can be detected in fecal samples for colorectal cancer screening
PMID: 40307680
Disease Associationsⓘ21
cancerOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.48Moderate
chronic myelogenous leukemiaOpen Targets
0.38Weak
vertebral column disorderOpen Targets
0.30Weak
Intellectual disabilityOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.27Weak
Neurodevelopmental disorderOpen Targets
0.26Weak
Alzheimer diseaseOpen Targets
0.24Weak
restless legs syndromeOpen Targets
0.23Weak
lysosomal storage diseaseOpen Targets
0.23Weak
multiple sclerosisOpen Targets
0.23Weak
Parkinson diseaseOpen Targets
0.23Weak
transient ischemic attackOpen Targets
0.22Weak
complex neurodevelopmental disorderOpen Targets
0.18Weak
neuroinflammatory disorderOpen Targets
0.17Weak
ulcerative colitisOpen Targets
0.16Weak
macrocephaly-developmental delay syndromeOpen Targets
0.12Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
Global developmental delayOpen Targets
0.11Weak
Houge-Janssens syndrome 4UniProt
Pathogenic Variants5
NM_001352913.2(PPP2R5C):c.310T>C (p.Cys104Arg)Likely pathogenic
not provided|Houge-Janssens syndrome 1
★★☆☆2025→ Residue 104
NM_001352913.2(PPP2R5C):c.566T>C (p.Leu189Pro)Likely pathogenic
not provided
★☆☆☆2025→ Residue 189
NM_001352913.2(PPP2R5C):c.694C>T (p.Arg232Trp)Likely pathogenic
Global developmental delay|Houge-Janssens syndrome 4
★☆☆☆2025→ Residue 232
NM_001352913.2(PPP2R5C):c.563A>G (p.His188Arg)Likely pathogenic
See cases
★☆☆☆2021→ Residue 188
NM_001352913.2(PPP2R5C):c.540_542del (p.Thr181del)Pathogenic
not provided
☆☆☆☆2025→ Residue 181
View on ClinVar ↗
Related Genes
STRNProtein interaction100%BUB1Protein interaction98%PPME1Protein interaction97%SGO1Protein interaction96%PPP4R2Protein interaction95%PPP3R1Protein interaction92%
Tissue Expression6 tissues
Heart
100%
Brain
80%
Bone Marrow
74%
Lung
54%
Ovary
39%
Liver
37%
Gene Interaction Network
Click a node to explore
PPP2R5CSTRNBUB1PPME1SGO1PPP4R2PPP3R1
PROTEIN STRUCTURE
Preparing viewer…
PDB5JJA · 2.35 Å · X-ray
View on RCSB ↗
RankingsWhere PPP2R5C stands among ~20K protein-coding genes
  • #3,742of 20,598
    Most Researched126 · top quartile
  • #3,509of 5,498
    Most Pathogenic Variants5
Genes detectedPPP2R5C
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Houge-Janssens syndrome.
PMID: 40555839
Eur J Hum Genet · 2025
1.00
2
Expression and distribution of PPP2R5C gene in leukemia.
PMID: 21548944
J Hematol Oncol · 2011
0.90
3
[Structural feature and biological function of PPP2R5C gene].
PMID: 19840435
Zhongguo Shi Yan Xue Ye Xue Za Zhi · 2009
0.80
4
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
PMID: 39978342
Am J Hum Genet · 2025
0.70
5
LincR-PPP2R5C regulates IL-1β ubiquitination in macrophages and promotes airway inflammation and emphysema in a murine model of COPD.
PMID: 39018689
Int Immunopharmacol · 2024
0.60