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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
UPK3A
uroplakin 3A
Chromosome 22 Β· 22q13.31
NCBI Gene: 7380Ensembl: ENSG00000100373.11HGNC: HGNC:12580UniProt: O75631
32PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular exosomeepithelial cell differentiationprotein bindingwater transportrenal agenesisrenal agenesis, unilateralUnilateral renal agenesisDupuytren Contracture
✦AI Summary

UPK3A (uroplakin 3A) is a structural component of the asymmetric unit membrane (AUM) in terminally differentiated urothelial cells, playing a critical role in maintaining bladder barrier integrity. The protein contributes to AUM-cytoskeleton interactions and formation of the urothelial glycocalyx, which protects against bacterial adherence 1. In healthy bladders, UPK3A+ umbrella cells form a specialized differentiated layer essential for normal barrier function. UPK3A expression is significantly reduced in Hunner-type interstitial cystitis/bladder pain syndrome (HIC), where urothelial damage and barrier dysfunction predominate 1. The TLR3-NR2F6 signaling axis has been identified as a key pathway responsible for UPK3A+ umbrella cell injury in HIC, suggesting therapeutic targets for restoring urothelial barrier function 1. Beyond bladder physiology, elevated urinary UPK3A serves as a sensitive biomarker for bladder cancer detection (83% sensitivity and specificity at optimal cutoff) 2, outperforming cytology and NMP22 testing. Ectopic UPK3A expression in gastric cancer promotes malignant progression by suppressing p53 signaling 3. Additionally, UPK3A mutations are implicated in congenital kidney disorders in Phelan-McDermid syndrome and vesicoureteral reflux, and UPK3A hypermethylation occurs in meningiomas with increasing frequency across tumor grades 456.

Sources cited
1
UPK3A+ umbrella cells are reduced in HIC bladders; TLR3-NR2F6 axis drives UPK3A+ umbrella cell injury; these pathways are therapeutic targets for urothelial barrier restoration
PMID: 38551071
2
Urinary UPK3A is elevated in bladder cancer patients with 83% sensitivity and 83% specificity; outperforms NMP22 (58% sensitivity) and cytology (64% sensitivity)
PMID: 20346489
3
High UPK3A expression in gastric cancer promotes cell proliferation, migration, and invasion by suppressing p53 signaling pathway; associated with poor prognosis
PMID: 35774082
4
UPK3A undergoes hypermethylation in meningiomas with increasing frequency according to tumor grade
PMID: 28527972
5
UPK3A is a candidate gene for kidney disorders in Phelan-McDermid syndrome, located in the 22q13.31-33 region
PMID: 35741804
6
UPK3A variants identified in familial vesicoureteral reflux cases, though without consistent family segregation
PMID: 36417404
7
Upk3a is a urothelial-specific marker used to target urothelial cell populations in transgenic mice; urothelial p53 affects homeostasis during S. haematobium infection
PMID: 26160678
Disease Associationsβ“˜20
renal agenesisOpen Targets
0.37Weak
renal agenesis, unilateralOpen Targets
0.37Weak
Unilateral renal agenesisOpen Targets
0.37Weak
Dupuytren ContractureOpen Targets
0.33Weak
secondary malignant neoplasmOpen Targets
0.32Weak
renal hypodysplasia/aplasia 1Open Targets
0.20Weak
congenital anomalies of kidney and urinary tract 1Open Targets
0.15Weak
gastric cancerOpen Targets
0.07Suggestive
bacterial urinary tract infectionOpen Targets
0.07Suggestive
benign prostatic hyperplasiaOpen Targets
0.07Suggestive
familial juvenile hyperuricemic nephropathy type 1Open Targets
0.06Suggestive
Genetic renal or urinary tract malformationOpen Targets
0.05Suggestive
hypoxanthine guanine phosphoribosyltransferase partial deficiencyOpen Targets
0.05Suggestive
primary hyperoxaluria type 2Open Targets
0.05Suggestive
Hyperuricemia - anemia - renal failureOpen Targets
0.05Suggestive
urofacial syndrome 2Open Targets
0.05Suggestive
familial vesicoureteral refluxOpen Targets
0.05Suggestive
xanthinuria type IIOpen Targets
0.05Suggestive
prostate carcinomaOpen Targets
0.05Suggestive
Ochoa syndromeOpen Targets
0.05Suggestive
Pathogenic Variants1
NM_006953.4(UPK3A):c.53-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†
View on ClinVar β†—
Related Genes
UPK1AProtein interaction75%UPK1BProtein interaction75%KRT20Protein interaction73%UPK2Protein interaction58%SLC14A1Shared pathway40%AQP12BShared pathway25%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
8%
Lung
4%
Ovary
2%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
UPK3AUPK1AUPK1BKRT20UPK2SLC14A1AQP12B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O75631
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.57LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.17 [0.88–1.57]
RankingsWhere UPK3A stands among ~20K protein-coding genes
  • #11,647of 20,598
    Most Researched32
  • #5,250of 5,498
    Most Pathogenic Variants1
  • #15,551of 17,882
    Most Constrained (LOEUF)1.57
Genes detectedUPK3A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
UPK3A
PMID: 38551071
J Pathol Β· 2024
1.00
2
High Expression of UPK3A Promotes the Progression of Gastric Cancer Cells by Inactivating p53 Pathway.
PMID: 35774082
Anal Cell Pathol (Amst) Β· 2022
0.90
3
Genetic and epigenetic alterations in meningiomas.
PMID: 28527972
Clin Neurol Neurosurg Β· 2017
0.80
4
State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes.
PMID: 35741804
Genes (Basel) Β· 2022
0.70
5
In focus in HCB.
PMID: 27900525
Histochem Cell Biol Β· 2017
0.60