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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PRUNE2
prune homolog 2 with BCH domain
Chromosome 9 · 9q21.2
NCBI Gene: 158471Ensembl: ENSG00000106772.19HGNC: HGNC:25209UniProt: A0A088AWP5
50PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Apoptosis
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingapoptotic processcytoplasmpyrophosphatase activitydenturespreeclampsiaobstructive sleep apneadental caries
✦AI Summary

PRUNE2 (prune homolog 2 with BCH domain) functions as a tumor suppressor gene with critical roles in cancer development and progression. The gene acts as a prostate cancer suppressor regulated by the intronic long non-coding RNA PCA3 through a unique mechanism involving ADAR-dependent RNA editing 1. PRUNE2 expression suppresses cell proliferation, while its silencing increases proliferation in prostate cancer cells 1. The PCA3/PRUNE2 regulatory axis operates as an early molecular event in prostate tumorigenesis, characterized by PCA3 upregulation and PRUNE2 downregulation across tumor grades and stages 2. MicroRNAs miR-19a and miR-421 regulate this axis by targeting PCA3, thereby restoring PRUNE2 tumor suppressor activity and promoting apoptosis in prostate cancer cells 3. Beyond prostate cancer, germline pathogenic variants in PRUNE2 represent a novel prostate cancer predisposition factor, identified in 2.8% of early-onset/familial prostate cancer patients 4. PRUNE2 also shows disease relevance in parathyroid carcinoma and colorectal cancer, where transcription factor FOXF2 directly targets PRUNE2 to suppress cell proliferation and invasion 5. Additionally, Olfaxin, an isoform of PRUNE2, plays a role in olfactory memory and odor preference 6.

Sources cited
1
PRUNE2 is a tumor suppressor regulated by PCA3 lncRNA through ADAR-dependent RNA editing; PRUNE2 expression decreases cell proliferation while PCA3 acts as dominant-negative oncogene
PMID: 26080435
2
PCA3 upregulation and PRUNE2 downregulation occur as early molecular events in prostate cancer across all tumor grades and stages
PMID: 36645410
3
miR-19a and miR-421 target PCA3 and restore PRUNE2 tumor suppressor activity, promoting apoptosis in prostate cancer cells
PMID: 34839449
4
Germline pathogenic variants in PRUNE2 identified in 2.8% of early-onset/familial prostate cancer patients, establishing PRUNE2 as novel prostate cancer predisposition gene
PMID: 36564567
5
FOXF2 transcription factor directly targets PRUNE2 to suppress proliferation and invasion in colorectal cancer cells
PMID: 35929169
6
Recurrent mutations of PRUNE2 gene detected in parathyroid carcinoma
PMID: 35282432
7
PRUNE2 gene mutations identified in parathyroid carcinoma as part of genomic landscape
PMID: 28949121
8
Olfaxin (PRUNE2 isoform) plays critical role in odor preference and olfactory memory
PMID: 29571668
Disease Associationsⓘ20
denturesOpen Targets
0.46Moderate
preeclampsiaOpen Targets
0.32Weak
obstructive sleep apneaOpen Targets
0.31Weak
dental cariesOpen Targets
0.31Weak
hidradenitisOpen Targets
0.25Weak
exostosisOpen Targets
0.24Weak
kidney diseaseOpen Targets
0.24Weak
ovarian neoplasmOpen Targets
0.23Weak
neuroblastomaOpen Targets
0.22Weak
neoplasmOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
leiomyosarcomaOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.07Suggestive
Barrett's esophagusOpen Targets
0.05Suggestive
Leber congenital amaurosis 10Open Targets
0.05Suggestive
Nijmegen breakage syndromeOpen Targets
0.04Suggestive
esophageal adenocarcinomaOpen Targets
0.04Suggestive
esophageal ulcerOpen Targets
0.04Suggestive
Abnormality of the earOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF443Shared pathway100%MAGEH1Shared pathway100%TP53AIP1Shared pathway100%CSRNP1Shared pathway100%PDCD2LShared pathway100%APRTProtein interaction81%
Tissue Expression6 tissues
Brain
100%
Lung
9%
Bone Marrow
8%
Heart
5%
Ovary
5%
Liver
2%
Gene Interaction Network
Click a node to explore
PRUNE2ZNF443MAGEH1TP53AIP1CSRNP1PDCD2LAPRT
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5JUB8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.52–0.69]
RankingsWhere PRUNE2 stands among ~20K protein-coding genes
  • #8,862of 20,598
    Most Researched50
  • #5,189of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedPRUNE2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Exome sequencing of affected duos and trios uncovers PRUNE2 as a novel prostate cancer predisposition gene.
PMID: 36564567
Br J Cancer · 2023
1.00
2
Genetics and Epigenetics of Parathyroid Carcinoma.
PMID: 35282432
Front Endocrinol (Lausanne) · 2022
0.90
3
miR-19a and miR-421 target PCA3 long non-coding RNA and restore PRUNE2 tumor suppressor activity in prostate cancer.
PMID: 34839449
Mol Biol Rep · 2022
0.80
4
FOXF2 Regulates PRUNE2 Transcription in the Pathogenesis of Colorectal Cancer.
PMID: 35929169
Technol Cancer Res Treat · 2022
0.70
5
PRUNE2 is a human prostate cancer suppressor regulated by the intronic long noncoding RNA PCA3.
PMID: 26080435
Proc Natl Acad Sci U S A · 2015
0.60