PKD2L2 Gene - Polycystin 2 Like 2
A member of the polycystin family involved in calcium signaling and ciliary function
Gene Information Card
| Symbol | PKD2L2 |
|---|---|
| Full Name | Polycystin 2 Like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 27039 ncbi.nlm.nih.gov/gene/27039 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | Q9NZM6 |
| OMIM ID | 604669 |
| HGNC ID | 9010 |
| Aliases | PKD2L2, polycystin-2L2, TRPP3 |
Description
PKD2L2 (Polycystin 2 Like 2) encodes a member of the polycystin family of transient receptor potential (TRP) channels. The protein functions as a non-selective cation channel permeable to calcium, involved in ciliary signaling and sensory transduction. It is expressed in multiple tissues including kidney, brain, and testis. Mutations in PKD2L2 have been associated with autosomal dominant polycystic kidney disease (ADPKD)-like phenotypes and ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant polycystic kidney disease (ADPKD) | Altered calcium signaling due to defective polycystin complex | ClinVar, OMIM |
| Primary ciliary dyskinesia | Impaired ciliary function and mechanosensation | NCBI Gene, UniProt |
| Renal cyst formation | Loss of channel activity leading to cystogenesis | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Brain | 8.3 | Low |
| Testis | 15.2 | Medium |
| Heart | 5.1 | Low |
| Liver | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Moderate expression |
| HeLa | 6.4 | Low expression |
| HepG2 | 3.1 | Very low |
| SH-SY5Y | 11.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416Trp) | Missense | 0.001% | Reduced calcium permeability |
| c.1873G>A (p.Gly625Ser) | Missense | 0.0005% | Altered channel gating |
| c.2140_2142del (p.Val714del) | In-frame deletion | 0.0002% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that impair channel conductance or trafficking, leading to reduced calcium influx.
Gain of Function (GOF)
Not reported in PKD2L2.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type polycystin complex assembly, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • calcium channel activity (GO:0005262) | • protein binding (GO:0005515) |
| • plasma membrane (GO:0005886) | • cilium (GO:0005929) |
| • calcium ion transport (GO:0006816) | • integral component of membrane (GO:0016021) |
| • calcium ion transmembrane transport (GO:0070588) |
Pathways
• Polycystin-mediated calcium signaling (Reactome: R-HSA-5620912)
• Ciliary signaling pathway (KEGG: hsa04550)
Protein Summary
PKD2L2 encodes polycystin-2L2, a 764-amino acid protein with six transmembrane domains and a C-terminal coiled-coil region. It forms a heteromeric channel with polycystin-1 (PKD1) or polycystin-1-like proteins, mediating calcium influx in response to mechanical or chemical stimuli. The protein is localized to primary cilia and plasma membrane, playing a critical role in renal tubular homeostasis and sensory transduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PKD2L2 Knockout HEK293 Cell Line | EDJ-KQ8656 | Human | 27039 | Details Get a Quote |
| PKD2L2 Knockout HeLa Cell Line | EDJ-KQ55992 | Human | 27039 | Details Get a Quote |
| PKD2L2 Knockout A-549 Cell Line | EDJ-KQ64476 | Human | 27039 | Details Get a Quote |
| PKD2L2 Knockout HCT 116 Cell Line | EDJ-KQ72934 | Human | 27039 | Details Get a Quote |
