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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UPK2
uroplakin 2
Chromosome 11 · 11q23.3
NCBI Gene: 7379Ensembl: ENSG00000110375.3HGNC: HGNC:12579UniProt: O00526
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingepithelial cell differentiationextracellular exosomeapical plasma membraneulcerative colitisfamilial juvenile hyperuricemic nephropathy type 1Dent diseaseprimary hyperoxaluria type 2
✦AI Summary

UPK2 (uroplakin 2) is a membrane-spanning protein component of the asymmetric unit membrane (AUM) in terminally differentiated urothelial cells, where it associates with other uroplakins to form urothelial plaques 1. The protein provides essential barrier function to prevent urine passage across the urothelium in the renal pelvis, ureters, and bladder 1. UPK2 belongs to the tetraspanin-associated UPK2/3 protein family, which evolved from protoPTPRQ-like ancestor genes through duplication and domain loss 2. In normal tissues, UPK2 expression is highly specific to urothelium 3. However, aberrant UPK2 expression occurs in malignancies. UPK2 is a diagnostic marker for urothelial carcinoma with excellent specificity, detectable by both immunohistochemistry and RNAscope methods 4. Notably, UPK2 is also overexpressed in a distinct subset of colorectal cancers (~12% of cases) 5. UPK2-positive colorectal cancers exhibit aggressive features including advanced stage, lymphovascular invasion, micropapillary growth pattern, TP53 mutations, and reduced anti-tumor immune infiltration 65. UPK2 positivity independently predicts poor prognosis with significantly higher colorectal cancer-specific mortality (hazard ratio 2.31) 5, establishing UPK2 as a prognostic marker for a high-risk, molecularly distinct cancer subtype.

Sources cited
1
UPK2 is a membrane-spanning uroplakin protein specific to urothelium that spans the apical membrane of umbrella cells and provides barrier function
PMID: 38418202
2
UPK2 belongs to the tetraspanin-associated UPK2/3 family that evolved from protoPTPRQ-like ancestor genes through duplication and domain loss
PMID: 28099513
3
UPK2 (UPII) expression is highly specific to urothelium in normal human tissues but can be expressed in malignant transformation including transitional cell carcinoma
PMID: 12474225
4
UPK2 exhibits excellent specificity for urothelial carcinoma and can be detected by both immunohistochemistry and RNAscope methods
PMID: 35027056
5
UPK2 is expressed in 12% of colorectal cancers and marks aggressive tumors with advanced stage, lymphovascular invasion, micropapillary growth, TP53 mutations, and reduced immune infiltration; UPK2 positivity independently predicts poor prognosis
PMID: 41381844
6
UPK2 is overexpressed in micropapillary colorectal adenocarcinoma, an aggressive CRC subtype associated with poor outcomes and decreased anti-tumor immune response
PMID: 39917902
Disease Associationsⓘ20
ulcerative colitisOpen Targets
0.08Suggestive
familial juvenile hyperuricemic nephropathy type 1Open Targets
0.06Suggestive
Dent diseaseOpen Targets
0.05Suggestive
primary hyperoxaluria type 2Open Targets
0.05Suggestive
hypoxanthine guanine phosphoribosyltransferase partial deficiencyOpen Targets
0.05Suggestive
familial renal glucosuriaOpen Targets
0.05Suggestive
Renal glucosuriaOpen Targets
0.05Suggestive
primary Fanconi syndromeOpen Targets
0.05Suggestive
Ichthyosis - intellectual disability - dwarfism - renal impairmentOpen Targets
0.05Suggestive
ichthyosis-intellectual disability-dwarfism-renal impairment syndromeOpen Targets
0.05Suggestive
Hyperuricemia - anemia - renal failureOpen Targets
0.05Suggestive
Autosomal recessive infantile hypercalcemiaOpen Targets
0.05Suggestive
xanthinuria type IIOpen Targets
0.05Suggestive
adenine phosphoribosyltransferase deficiencyOpen Targets
0.05Suggestive
pentosuriaOpen Targets
0.05Suggestive
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosisOpen Targets
0.05Suggestive
Fanconi renotubular syndrome 1Open Targets
0.05Suggestive
Genetic renal or urinary tract malformationOpen Targets
0.05Suggestive
hyperprolinemia type 1Open Targets
0.05Suggestive
Ochoa syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UPK3BProtein interaction94%UPK1BProtein interaction84%UPK1AProtein interaction84%KRT20Protein interaction71%UPK3AProtein interaction58%TAGLNShared pathway50%
Tissue Expression6 tissues
Brain
100%
Ovary
8%
Lung
6%
Heart
0%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
UPK2UPK3BUPK1BUPK1AKRT20UPK3ATAGLN
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O00526
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.22 [0.85–1.75]
RankingsWhere UPK2 stands among ~20K protein-coding genes
  • #11,090of 20,598
    Most Researched35
  • #16,343of 17,882
    Most Constrained (LOEUF)1.75
Genes detectedUPK2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Comprehensive characterization of micropapillary colorectal adenocarcinoma.
PMID: 39917902
J Pathol · 2025
1.00
2
Gene of the month: the uroplakins.
PMID: 38418202
J Clin Pathol · 2024
0.90
3
Urothelium marker UPK2 identifies aggressive colorectal cancers with distinct molecular and histological features.
PMID: 41381844
Br J Cancer · 2026
0.80
4
Identification and characterization of human LL5A gene and mouse Ll5a gene in silico.
PMID: 14532993
Int J Oncol · 2003
0.70
5
Identification and characterization of human BCL9L gene and mouse Bcl9l gene in silico.
PMID: 12964048
Int J Mol Med · 2003
0.60