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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PKD2L1
polycystin 2 like 1, transient receptor potential cation channel
Chromosome 10 · 10q24.31
NCBI Gene: 9033Ensembl: ENSG00000107593.17HGNC: HGNC:9011UniProt: Q1L4F0
47PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sodium channel activitycalcium ion bindingmonoatomic cation transmembrane transportsodium ion transmembrane transportAbnormality of the skeletal systemcoronary artery diseasebiliary tract diseaseskin disease
✦AI Summary

PKD2L1 (TRPP3) is a transient receptor potential cation channel that functions as both a homomeric and heteromeric ion channel permeable to sodium, potassium, magnesium, and calcium 1. The channel forms functional heteromers with PKD1L3, creating a unique 'off-response' channel that activates when extracellular pH rises following acid removal, though PKD2L1 can also exhibit this acid-sensing property independently 2. This heteromeric complex requires transmembrane domain interactions for proper cellular trafficking and localization to taste pores in circumvallate and foliate papillae 3. PKD2L1 trimerization is mediated by a novel C-terminal domain (K575-T622) that is critical for both channel assembly and function 1. The channel's activity is regulated by intracellular calcium and can be inhibited by capsaicin and its analogs 42. While PKD2L1 is expressed in acid-sensitive taste cells and has been proposed as a sour taste receptor, its direct role in sour taste perception remains unclear 5. Recent pharmacological screening has identified PKD2L1 as sharing molecular similarities with voltage-gated sodium channels, with inhibitors binding to lateral fenestration sites and stabilizing the inactivated state 6.

Sources cited
1
PKD2L1 forms homomeric non-selective cation channels and has a novel C-terminal domain critical for trimerization and function
PMID: 25820328
2
PKD2L1 exhibits acid-induced off-response properties independently of PKD1L3 and is regulated by intracellular calcium
PMID: 26502994
3
PKD1L3-PKD2L1 interaction through transmembrane domains is required for proper cellular trafficking and taste pore localization
PMID: 20538909
4
PKD2L1 channel activity is inhibited by capsaicin and its analogs
PMID: 22420714
5
PKD2L1 is expressed in acid-sensitive taste cells but its direct role in sour taste perception is unclear
PMID: 24961971
6
PKD2L1 shares pharmacological similarities with voltage-gated sodium channels and has lateral fenestration binding sites
PMID: 40518131
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.42Moderate
coronary artery diseaseOpen Targets
0.34Weak
biliary tract diseaseOpen Targets
0.29Weak
skin diseaseOpen Targets
0.26Weak
frozen shoulderOpen Targets
0.26Weak
coronary atherosclerosisOpen Targets
0.26Weak
metabolic diseaseOpen Targets
0.24Weak
Cerebral degenerationOpen Targets
0.24Weak
lens diseaseOpen Targets
0.19Weak
cataractOpen Targets
0.14Weak
Age-related cataractOpen Targets
0.14Weak
response to bronchodilatorOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
liver diseaseOpen Targets
0.05Suggestive
pernicious anemiaOpen Targets
0.02Suggestive
aneurysmOpen Targets
0.02Suggestive
squamous cell lung carcinomaOpen Targets
0.02Suggestive
Scheuermann diseaseOpen Targets
0.02Suggestive
breast carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PKD1L1Protein interaction98%PLCB2Protein interaction98%TRPC1Protein interaction95%PKD1L2Protein interaction95%TAS1R1Protein interaction80%CA4Protein interaction73%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
64%
Brain
63%
Liver
41%
Ovary
5%
Heart
0%
Gene Interaction Network
Click a node to explore
PKD2L1PKD1L1PLCB2TRPC1PKD1L2TAS1R1CA4
PROTEIN STRUCTURE
Preparing viewer…
PDB3TE3 · 2.69 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.67–1.00]
RankingsWhere PKD2L1 stands among ~20K protein-coding genes
  • #9,255of 20,598
    Most Researched47
  • #9,709of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedPKD2L1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Energetic landscape of polycystin channel gating.
PMID: 37158562
EMBO Rep · 2023
1.00
2
Defining the polycystin pharmacophore through high-throughput screening and computational biophysics.
PMID: 40518131
Br J Pharmacol · 2025
0.90
3
Genetic Variants in WNT16 and PKD2L1 Locus Affect Heel Ultrasound Bone Stiffness: Analyses from the General Population and Patients Evaluated for Osteoporosis.
PMID: 37831088
Calcif Tissue Int · 2023
0.80
4
The response of PKD1L3/PKD2L1 to acid stimuli is inhibited by capsaicin and its pungent analogs.
PMID: 22420714
FEBS J · 2012
0.70
5
Acid-induced off-response of PKD2L1 channel in Xenopus oocytes and its regulation by Ca(2.).
PMID: 26502994
Sci Rep · 2015
0.60