UPK2 Gene - Uroplakin 2
Key component of urothelial plaques, associated with bladder cancer and urinary tract disorders
Gene Information Card
| Symbol | UPK2 |
|---|---|
| Full Name | uroplakin 2 |
| Gene Type | protein coding |
| Chromosomal Location | 11q23.1 |
| NCBI Gene ID | 7379 ncbi.nlm.nih.gov/gene/7379 |
| Ensembl ID | ENSG00000110375 |
| UniProt ID | O00526 |
| OMIM ID | 611557 |
| HGNC ID | 12580 |
| Aliases | UPII, Uroplakin II |
Description
UPK2 (uroplakin 2) encodes a transmembrane protein that is a major component of urothelial plaques, which are specialized membrane structures in the apical surface of urothelial cells. These plaques play a critical role in the permeability barrier function of the urinary bladder. UPK2 is expressed exclusively in urothelium and is frequently downregulated in bladder cancer, making it a potential biomarker and therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bladder cancer | Loss of UPK2 expression correlates with tumor progression and poor prognosis; epigenetic silencing via promoter methylation | ClinVar, COSMIC, NCBI Gene |
| Urothelial carcinoma | Reduced UPK2 expression is associated with invasive phenotype and metastasis | NCBI Gene, OMIM |
| Urinary tract infection susceptibility | Altered uroplakin plaque integrity may impair barrier function | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Urinary bladder | 45.2 | High |
| Kidney | 1.3 | Low |
| Prostate | 0.8 | Low |
| Ureter | 38.7 | High |
| Lung | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RT4 (bladder cancer) | 120.5 | High expression; derived from papillary tumor |
| T24 (bladder cancer) | 2.1 | Low expression; invasive cell line |
| HEK293 (embryonic kidney) | 0.0 | No expression; non-urothelial |
| 5637 (bladder cancer) | 1.5 | Low expression; grade II carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.124C>T (p.Arg42Cys) | Missense | 0.01% | Unknown significance; reported in bladder cancer |
| c.205_206insA (p.Thr69Asnfs*5) | Frameshift | 0.005% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in UPK2 lead to truncated or absent protein, disrupting urothelial plaque formation and barrier integrity.
Gain of Function (GOF)
No gain-of-function mutations reported for UPK2.
Dominant Negative (DN)
No dominant-negative mutations reported for UPK2.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • protein binding involved in heterotypic cell-cell adhesion (GO:0030674) | • keratinization (GO:0070262) |
| • keratinization (GO:0031424) |
Pathways
• Uroplakin complex assembly
• Keratinization
• Cell-cell adhesion
Protein Summary
Uroplakin 2 is a 184-amino acid transmembrane protein that forms heterodimers with uroplakin 1a and 1b to assemble into urothelial plaques. These plaques are essential for the urinary bladder's permeability barrier. The protein contains a single transmembrane domain and is highly glycosylated. Loss of UPK2 expression is a hallmark of invasive bladder cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UPK2 Knockout HEK293 Cell Line | EDJ-KQ6002 | Human | 7379 | Details Get a Quote |
| UPK2 Knockout HeLa Cell Line | EDJ-KQ54729 | Human | 7379 | Details Get a Quote |
| UPK2 Knockout A-549 Cell Line | EDJ-KQ63222 | Human | 7379 | Details Get a Quote |
| UPK2 Knockout HCT 116 Cell Line | EDJ-KQ71687 | Human | 7379 | Details Get a Quote |
