HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
28 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PNN
pinin, desmosome associated protein
Chromosome 14 · 14q21.1
NCBI Gene: 5411Ensembl: ENSG00000100941.10HGNC: HGNC:9162UniProt: Q9H307
211PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription FactorTumor Suppressor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
exon-exon junction complexRNA bindingprotein bindingnucleusneurodegenerative diseaseneoplasmhepatocellular carcinomarenal cell carcinoma
✦AI Summary

PNN (pinin, desmosome associated protein) is a multifunctional protein that serves dual roles in both nuclear RNA processing and cell adhesion. As a nuclear component, PNN functions as a transcriptional activator that binds to E-box sequences in the E-cadherin promoter and can reverse transcriptional repression 1. It serves as an auxiliary component of the exon junction complex (EJC) and participates in alternative pre-mRNA splicing regulation, associating with spliced mRNA within 60 nucleotides upstream of 5'-splice sites 1. In the cytoplasm, PNN maintains its original role as a desmosome-associated protein involved in establishing and maintaining epithelial cell-cell adhesion through connections with intermediate filaments 1. The protein demonstrates significant clinical relevance, functioning as a potential tumor suppressor for renal cell carcinoma and playing roles in cancer progression and metastasis 1. PNN expression levels correlate with various pathological conditions, including reduced expression associated with human dementia and protective roles against ischemic stress in astrocytes 1. In prostate cancer research, PNN has been identified as a hub gene related to bicalutamide resistance, highlighting its involvement in endocrine therapy resistance mechanisms 2.

Sources cited
1
PNN functions as transcriptional activator, EJC component, splicing regulator, desmosome protein, tumor suppressor, and shows correlation with dementia and protective effects against ischemic stress
PMID: 34237338
2
PNN identified as hub gene related to bicalutamide resistance in prostate cancer
PMID: 37143720
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.32Weak
neoplasmOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
renal cell carcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
ovarian cancerOpen Targets
0.07Suggestive
cancerOpen Targets
0.05Suggestive
infectionOpen Targets
0.05Suggestive
nasopharyngeal carcinomaOpen Targets
0.04Suggestive
congenital heart defects, multiple types, 9Open Targets
0.04Suggestive
posterior cortical atrophyOpen Targets
0.04Suggestive
Heart defects - limb shorteningOpen Targets
0.04Suggestive
heart defects-limb shortening syndromeOpen Targets
0.04Suggestive
congenital absence of upper arm and forearm with hand presentOpen Targets
0.04Suggestive
nemaline myopathy 9Open Targets
0.03Suggestive
spondylocostal dysostosis 4, autosomal recessiveOpen Targets
0.03Suggestive
vertebral, cardiac, renal, and limb defects syndrome 3Open Targets
0.03Suggestive
Klippel-Feil syndrome 2, autosomal recessiveOpen Targets
0.03Suggestive
Ischemic strokeOpen Targets
0.03Suggestive
chromosome 22q11.2 deletion syndrome, distalOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SRRM1Protein interaction98%MAGOHProtein interaction97%EIF4A3Protein interaction96%PNISRProtein interaction95%SRSF11Protein interaction94%PPIGProtein interaction91%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
60%
Ovary
50%
Lung
37%
Brain
26%
Heart
21%
Gene Interaction Network
Click a node to explore
PNNSRRM1MAGOHEIF4A3PNISRSRSF11PPIG
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H307
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.43Tolerant
Observed/Expected LoF0.40 [0.29–0.56]
RankingsWhere PNN stands among ~20K protein-coding genes
  • #1,980of 20,598
    Most Researched211 · top 10%
  • #3,672of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedPNN
Sources retrieved28 papers
Response time—
📄 Sources
28▼
1
Microglia facilitate loss of perineuronal nets in the Alzheimer's disease brain.
PMID: 32745992
EBioMedicine · 2020
1.00
2
The role and regulation of Pnn in proliferative and non-dividing cells: Form embryogenesis to pathogenesis.
PMID: 34237338
Biochem Pharmacol · 2021
0.90
3
Microglia mediate the early-life programming of adult glucose control.
PMID: 40085644
Cell Rep · 2025
0.80
4
Nutritional regulation of oligodendrocyte differentiation regulates perineuronal net remodeling in the median eminence.
PMID: 34260928
Cell Rep · 2021
0.80
5
Endoscopic vidian and vidian-branch neurectomy for refractory allergic rhinitis: A systematic review.
PMID: 37715589
Int Forum Allergy Rhinol · 2024
0.72