PKD2 (polycystin 2, transient receptor potential cation channel)
The PKD2 gene encodes polycystin-2, a non-selective cation channel belonging to the transient receptor potential (TRP) channel family, specifically within the TRPP subfamily. This protein is predominantly localized to the primary cilium and the plasma membrane, where it serves as a mechanosensitive calcium channel that transduces fluid shear stress signals into intracellular calcium transients. PKD2 is widely expressed in various tissues, including the kidney, liver, and pancreas, and functions critically in regulating cellular processes such as proliferation, differentiation, and apoptosis by modulating intracellular calcium homeostasis. It forms a heteromeric complex with polycystin-1, the product of the PKD1 gene, to maintain the structural integrity and functional polarity of renal tubular epithelial cells. Loss-of-function mutations in PKD2 lead to autosomal dominant polycystic kidney disease (ADPKD), a condition characterized by the progressive formation and expansion of renal cysts that ultimately result in renal failure, often accompanied by hepatic cysts, hypertension, and cardiovascular abnormalities. These mutations disrupt the normal calcium signaling cascade and impair ciliary function, thereby promoting cystogenesis. Furthermore, the PKD2 protein interacts with other family members, such as PKD1 and PKDL, to facilitate mechanosensation and intercellular communication. Dysregulation of PKD2 expression, whether through overexpression or downregulation, can perturb calcium signaling and ciliary integrity, and emerging evidence suggests that aberrant PKD2 activity may also intersect with developmental signaling pathways such as Wnt and mTOR, potentially contributing to tumorigenesis.
Gene Ontology
Subcellular localization of PKD2 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for PKD2:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| Assembly of the primary cilium |
| Cargo trafficking to the periciliary membrane |
| Organelle biogenesis and maintenance |
| VxPx cargo-targeting to cilium |
| Disease | Score | NofPmids | NofSnps | Source |
| Polycystic kidney disease, type 2 | 0.320542884 | 8 | 7 | BeFree_CLINVAR_MGD_UNIPROT |
| Polycystic Kidney, Autosomal Dominant | 0.181213836 | 191 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Vascular Diseases | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Neurodegenerative Disorders | 0.12 | 1 | 0 | CTD_human |
| Retinal Diseases | 0.12 | 1 | 0 | CTD_human |
| Acute kidney injury | 0.08 | 1 | 0 | RGD |
| Polycystic Kidney Diseases | 0.018326021 | 33 | 0 | BeFree_GAD_LHGDN |
| Kidney Failure, Chronic | 0.004614512 | 17 | 0 | BeFree |
| Simple renal cyst | 0.00434307 | 16 | 0 | BeFree |
| Cyst | 0.004071628 | 15 | 0 | BeFree |
Contact
No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong
Qilu Normal University · Genelibs Bioinformatics Lab
750 Shunhua Rd, Jinan
2F, Bldg F, University Science Park
Tel: 0531-88819269
WeChat Official Account
Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.
Business Email
E-mail: product@genelibs.com
Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2
