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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PPIL2
peptidylprolyl isomerase like 2
Chromosome 22 · 22q11.21-q11.22
NCBI Gene: 23759Ensembl: ENSG00000100023.20HGNC: HGNC:9261UniProt: A0A7P0TBL3
75PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleuscytoplasmnucleoplasmprotein bindingneurodegenerative diseasehair colorautismbreast cancer
✦AI Summary

PPIL2 (peptidylprolyl isomerase like 2) is a multifunctional protein that serves as both a U-box E3 ubiquitin ligase and a component of the minor spliceosome. As an E3 ligase, PPIL2 promotes protein degradation through Lys-48-linked polyubiquitination of key substrates including p53 1 and SNAI1 2. In the minor spliceosome, PPIL2 functions as a structural component that coordinates loop I of U5 snRNA and stabilizes U5 snRNP during splicing of rare U12-type introns 3. PPIL2 also regulates homologous recombination DNA repair by ubiquitinating CtIP at the K426 site, with this activity being modulated by PLK1 phosphorylation 4. Disease relevance includes roles in myeloproliferative neoplasms, where PPIL2 is upregulated as a STAT5 target and promotes cell proliferation by degrading p53 1, and in breast cancer metastasis, where it suppresses epithelial-mesenchymal transition through SNAI1 degradation 2. PPIL2 also positively regulates BACE1 mRNA levels, potentially impacting Alzheimer's disease pathogenesis 5. Clinically, PPIL2 represents a potential therapeutic target, as cyclosporin A treatment can inhibit its activity and reduce myeloproliferative phenotypes 1.

Sources cited
1
PPIL2 functions as a component of the minor spliceosome that coordinates U5 snRNA and stabilizes U5 snRNP
PMID: 33509932
2
PPIL2 is a STAT5 target that promotes myeloproliferation by degrading p53 through polyubiquitination
PMID: 40338661
3
PPIL2 suppresses breast cancer metastasis by promoting SNAI1 ubiquitination and degradation
PMID: 29352246
4
PPIL2 ubiquitinates CtIP at K426 site to regulate homologous recombination DNA repair
PMID: 36092721
5
PPIL2 positively regulates BACE1 mRNA levels, affecting amyloid beta production
PMID: 16978875
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
hair colorOpen Targets
0.24Weak
autismOpen Targets
0.11Weak
breast cancerOpen Targets
0.08Suggestive
systemic lupus erythematosusOpen Targets
0.05Suggestive
pulmonary edemaOpen Targets
0.03Suggestive
infectionOpen Targets
0.03Suggestive
inflammatory bowel diseaseOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
Crohn's diseaseOpen Targets
0.02Suggestive
acute promyelocytic leukemiaOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
Abruptio PlacentaeOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
prostate cancerOpen Targets
0.02Suggestive
leukemiaOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
XAB2Protein interaction100%RBM22Protein interaction100%SNRPA1Protein interaction100%BUD31Protein interaction100%ZNF830Protein interaction99%BUD13Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
96%
Heart
85%
Lung
82%
Ovary
69%
Brain
40%
Gene Interaction Network
Click a node to explore
PPIL2XAB2RBM22SNRPA1BUD31ZNF830BUD13
PROTEIN STRUCTURE
Preparing viewer…
PDB1ZKC · 1.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.53–0.83]
RankingsWhere PPIL2 stands among ~20K protein-coding genes
  • #6,355of 20,598
    Most Researched75
  • #7,055of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedPPIL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structure of the activated human minor spliceosome.
PMID: 33509932
Science · 2021
1.00
2
PPIL2 is a target of the JAK2/STAT5 pathway and promotes myeloproliferation via degradation of p53.
PMID: 40338661
J Clin Invest · 2025
0.90
3
mRNA levels of BACE1 and its interacting proteins, RTN3 and PPIL2, correlate in human post mortem brain tissue.
PMID: 24853053
Neuroscience · 2014
0.80
4
Structural and Functional Insights into Human Nuclear Cyclophilins.
PMID: 30518120
Biomolecules · 2018
0.70
5
Novel minor HLA DR associated antigens in type 1 diabetes.
PMID: 29990590
Clin Immunol · 2018
0.60