PKD2 Gene: Polycystin-2, Autosomal Dominant Polycystic Kidney Disease
A comprehensive biomedical overview of the PKD2 gene, its protein product, associated diseases, expression, mutations, and functional roles.
Gene Information Card
| Symbol | PKD2 |
|---|---|
| Full Name | Polycystin-2 (transient receptor potential cation channel, subfamily C, member 2) |
| Gene Type | protein-coding |
| Chromosomal Location | 4q22.1 |
| NCBI Gene ID | 5311 ncbi.nlm.nih.gov/gene/5311 |
| Ensembl ID | ENSG00000118762 |
| UniProt ID | Q13563 |
| OMIM ID | 173910 |
| HGNC ID | 9009 |
| Aliases | TRPP2, PC2, PKD4 |
Description
The PKD2 gene encodes polycystin-2, a member of the transient receptor potential (TRP) channel family. It functions as a calcium-permeable cation channel involved in various cellular processes, including calcium signaling, renal tubular development, and ciliary function. Mutations in PKD2 are a major cause of autosomal dominant polycystic kidney disease (ADPKD), characterized by the formation of fluid-filled cysts in the kidneys and other organs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Loss-of-function mutations in PKD2 lead to defective polycystin-2 protein, disrupting calcium signaling and ciliary function, promoting cyst formation. | ClinVar, OMIM |
| Polycystic Liver Disease | PKD2 mutations can also cause hepatic cysts, often in conjunction with kidney cysts. | OMIM, literature |
| Pancreatic Cysts | Some PKD2 mutations are associated with pancreatic cyst formation. | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | High | High |
| Liver | Medium | Medium |
| Pancreas | Medium | Medium |
| Brain | Low | Low |
| Heart | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | High | Commonly used for overexpression studies |
| HeLa | Medium | Endogenous expression detected |
| HepG2 | Medium | Liver-derived cell line |
| MCF7 | Low | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Ter) | Nonsense | Rare | Truncated protein, loss of function |
| c.1831C>T (p.Arg611Ter) | Nonsense | Rare | Truncated protein, loss of function |
| c.2029C>T (p.Arg677Ter) | Nonsense | Rare | Truncated protein, loss of function |
| c.2146C>T (p.Arg716Ter) | Nonsense | Rare | Truncated protein, loss of function |
| c.2485C>T (p.Arg829Ter) | Nonsense | Rare | Truncated protein, loss of function |
| c.2632C>T (p.Arg878Ter) | Nonsense | Rare | Truncated protein, loss of function |
| c.2764C>T (p.Arg922Ter) | Nonsense | Rare | Truncated protein, loss of function |
| c.2923C>T (p.Arg975Ter) | Nonsense | Rare | Truncated protein, loss of function |
| c.2950C>T (p.Arg984Ter) | Nonsense | Rare | Truncated protein, loss of function |
| c.2995C>T (p.Arg999Ter) | Nonsense | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most PKD2 mutations are loss-of-function, leading to reduced or absent polycystin-2 channel activity, disrupting calcium signaling and ciliary function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PKD2.
Dominant Negative (DN)
Some missense mutations may exert a dominant-negative effect, interfering with the function of the wild-type protein in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • calcium channel activity |
| • ion channel activity | • protein binding |
| • identical protein binding | • plasma membrane |
| • cilium | • endoplasmic reticulum membrane |
| • integral component of membrane | • calcium ion transport |
| • cell differentiation | • kidney development |
| • response to stimulus |
Pathways
• Calcium signaling pathway
• Ciliary signaling pathway
• Wnt signaling pathway
• mTOR signaling pathway
• VEGF signaling pathway
Protein Summary
Polycystin-2 (PC2) is a 968-amino acid protein with six transmembrane domains and intracellular N- and C-termini. It forms a calcium-permeable non-selective cation channel, often in complex with polycystin-1 (PC1). PC2 is localized to the primary cilium, plasma membrane, and endoplasmic reticulum. It plays critical roles in intracellular calcium homeostasis, ciliary signaling, and tubular morphogenesis. Mutations in PC2 disrupt these functions, leading to cystogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PKD2L1 Knockout HEK293 Cell Line | EDJ-KQ6437 | Human | 9033 | Details Get a Quote |
| PKD2L2 Knockout HEK293 Cell Line | EDJ-KQ8656 | Human | 27039 | Details Get a Quote |
| PKD2 Knockout HEK293 Cell Line | EDJ-KQ14778 | Human | 5311 | Details Get a Quote |
| PKD2 Knockout A-549 Cell Line | EDJ-KQ45177 | Human | 5311 | Details Get a Quote |
| PKD2 Knockout HCT 116 Cell Line | EDJ-KQ45178 | Human | 5311 | Details Get a Quote |
| PKD2 Knockout HeLa Cell Line | EDJ-KQ45179 | Human | 5311 | Details Get a Quote |
| PKD2 Knockout H1 Cell Line | EDJ-KZ402 | Human | 5311 | Details Get a Quote |
| PKD2L1 Knockout HeLa Cell Line | EDJ-KQ55060 | Human | 9033 | Details Get a Quote |
| PKD2L2 Knockout HeLa Cell Line | EDJ-KQ55992 | Human | 27039 | Details Get a Quote |
| PKD2L1 Knockout A-549 Cell Line | EDJ-KQ63540 | Human | 9033 | Details Get a Quote |
| PKD2L2 Knockout A-549 Cell Line | EDJ-KQ64476 | Human | 27039 | Details Get a Quote |
| PKD2L1 Knockout HCT 116 Cell Line | EDJ-KQ72010 | Human | 9033 | Details Get a Quote |
| PKD2L2 Knockout HCT 116 Cell Line | EDJ-KQ72934 | Human | 27039 | Details Get a Quote |
