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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PPFIBP2
PPFIB scaffold protein 2
Chromosome 11 · 11p15.4
NCBI Gene: 8495Ensembl: ENSG00000166387.14HGNC: HGNC:9250UniProt: A0A804HJY3
45PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
identical protein bindingprotein bindingGO:0005615neuromuscular junction developmentprostate carcinomahair colorcutaneous melanomaAbnormality of the integument
✦AI Summary

PPFIBP2 (PPFIB scaffold protein 2) is a focal adhesion-associated protein with emerging roles in cancer progression and vascular biology. The protein may regulate focal adhesion disassembly [UniProt] and localizes to the cytosol and presynaptic active zones [GO annotations]. Functionally, PPFIBP2 appears to suppress epithelial-mesenchymal transition (EMT) and tumor invasiveness; YAP1-mediated suppression of PPFIBP2 expression enhances EMT and promotes invasion and migration in head and neck squamous cell carcinoma (HNSCC), with pharmacological YAP1 inhibition reducing these effects 1. Clinically, germline loss-of-function mutations in PPFIBP2 are strongly associated with lethal prostate cancer risk (OR=13.8 in Europeans) and predict shorter survival after diagnosis 2, while common genetic variants at the PPFIBP2 locus (rs12791447) are associated with prostate cancer susceptibility across Asian populations 3. Additionally, PPFIBP2 variants appear as candidates in other malignancies including carotid paragangliomas 4 and endocervical adenocarcinoma 5. However, PPFIBP2 variants show no significant association with interstitial lung disease in rheumatoid arthritis 6. These findings suggest PPFIBP2 functions as a tumor suppressor with therapeutic potential as a target for blocking metastatic progression.

Sources cited
1
YAP1 suppresses PPFIBP2/liprin-β2 expression to upregulate EMT, invasion, and migration in HNSCC; blocking this axis reduces tumor aggressiveness
PMID: 40707583
2
Germline loss-of-function mutations in PPFIBP2 associate with lethal prostate cancer risk (OR=13.8) and shorter survival compared to low-risk cases
PMID: 30043417
3
PPFIBP2 locus variant rs12791447 at 11p15.4 associated with prostate cancer susceptibility in Asian populations with differential mRNA expression in tumors
PMID: 26443449
4
PPFIBP2 identified as candidate gene with potential cis-effect in carotid paragangliomas through exome and transcriptome sequencing
PMID: 30967136
5
Low PPFIBP2 expression characteristic of intestinal-type versus usual-type endocervical adenocarcinoma in transcriptomic signature
PMID: 32317172
6
PPFIBP2 rs6578890 showed no significant association with interstitial lung disease in Japanese rheumatoid arthritis patients
PMID: 39110542
7
PPFIBP2 identified as nominally significant candidate in gene-based rare variant association tests for lethal prostate cancer
PMID: 39154125
Disease Associationsⓘ20
prostate carcinomaOpen Targets
0.50Moderate
hair colorOpen Targets
0.49Moderate
cutaneous melanomaOpen Targets
0.33Weak
Abnormality of the integumentOpen Targets
0.32Weak
pernicious anemiaOpen Targets
0.31Weak
health study participationOpen Targets
0.30Weak
neuroendocrine neoplasmOpen Targets
0.24Weak
Precordial painOpen Targets
0.23Weak
bronchial diseaseOpen Targets
0.20Weak
placenta praeviaOpen Targets
0.19Weak
interstitial lung diseaseOpen Targets
0.14Weak
pituitary gland diseaseOpen Targets
0.10Weak
pneumococcal pneumoniaOpen Targets
0.10Weak
corneal edemaOpen Targets
0.10Weak
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
obesityOpen Targets
0.04Suggestive
sign or symptomOpen Targets
0.04Suggestive
endocrine system diseaseOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
rheumatoid arthritisOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PDZRN3Shared pathway100%PTPRDProtein interaction86%PTPRFProtein interaction86%PTPRSProtein interaction86%PPFIA1Protein interaction86%PPFIA2Protein interaction85%
Tissue Expression6 tissues
Liver
100%
Ovary
37%
Heart
31%
Lung
29%
Bone Marrow
21%
Brain
18%
Gene Interaction Network
Click a node to explore
PPFIBP2PDZRN3PTPRDPTPRFPTPRSPPFIA1PPFIA2
PROTEIN STRUCTURE
Preparing viewer…
PDB3QH9 · 2.01 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.95 [0.81–1.11]
RankingsWhere PPFIBP2 stands among ~20K protein-coding genes
  • #9,502of 20,598
    Most Researched45
  • #11,395of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedPPFIBP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.
PMID: 26443449
Nat Commun · 2015
1.00
2
Blocking YAP1-Liprin-β2 interaction impedes metastasis and promotes tumor suppression in head and neck squamous carcinoma.
PMID: 40707583
Sci Rep · 2025
0.90
3
Novel potential causative genes in carotid paragangliomas.
PMID: 30967136
BMC Med Genet · 2019
0.80
4
Using gene and gene-set association tests to identify lethal prostate cancer genes.
PMID: 39154125
Prostate Cancer Prostatic Dis · 2025
0.70
5
Germline mutations in PPFIBP2 are associated with lethal prostate cancer.
PMID: 30043417
Prostate · 2018
0.60