HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PKD2L2
polycystin 2 like 2, transient receptor potential cation channel
Chromosome 5 · 5q31.2
NCBI Gene: 27039Ensembl: ENSG00000078795.17HGNC: HGNC:9012UniProt: Q9NZM6
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
calcium channel activitydetection of mechanical stimulusmembranecalcium ion bindingatrial fibrillationmixed connective tissue diseasepolycythemia veracardiac arrhythmia
✦AI Summary

PKD2L2 encodes polycystin-L2, a six-transmembrane transient receptor potential (TRP) cation channel protein belonging to the polycystin family 1. The protein exhibits lower single-channel conductance compared to related polycystins and functions as a calcium-permeable ion channel component involved in cellular calcium homeostasis 2. PKD2L2 is predicted to form heteromeric complexes with PKD1-like proteins, establishing functional calcium signaling compartments in specialized cellular structures such as primary cilia 3. The gene demonstrates evolutionary conservation across mammalian species under purifying selection, though with weaker constraints than PKD2 and PKD2L1 orthologs, with some transmembrane loop regions showing functional divergence 4. PKD2L2 is expressed in multiple tissues including brain, kidney, testis, and heart, with alternative splicing generating transcript variants 1. Clinically, PKD2L2 variants have been identified in patients with autosomal dominant polycystic kidney disease (ADPKD) and chr5 kidney disease, including novel missense mutations 5. Additionally, PKD2L2 was recently implicated in cardiac conduction disorders through genome-wide association studies, identifying it as a genetic locus associated with atrioventricular block 6.

Sources cited
1
PKD2L2 encodes polycystin-L2, a six-transmembrane protein with 621-624 amino acids, expressed in brain, kidney, testis, and heart with alternative splicing
PMID: 10756092
2
TRPP2 and related polycystin proteins function as calcium-regulated, non-selective cation channels involved in cellular calcium signaling
PMID: 15971078
3
PKD2L2 is a 6-transmembrane TRPP channel protein that forms heteromeric complexes with PKD1-like proteins in primary cilia calcium signaling
PMID: 24336289
4
PKD2L2 evolved under weaker purifying selection constraints than PKD2 and PKD2L1, with some transmembrane loop regions showing higher functional divergence
PMID: 19184643
5
PKD2L2 variants, including novel missense mutation c.1364A > T, were identified in ADPKD and chronic kidney disease patients
PMID: 36422197
6
PKD2L2 was identified as a genetic locus associated with atrioventricular block in genome-wide association studies of cardiac conduction disorders
PMID: 40022259
7
PKD2L2 encodes a protein approximately 65% similar to polycystin-2 with expression in testis and other tissues
PMID: 10602361
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.36Weak
mixed connective tissue diseaseOpen Targets
0.32Weak
polycythemia veraOpen Targets
0.28Weak
cardiac arrhythmiaOpen Targets
0.16Weak
acute graft vs. host diseaseOpen Targets
0.09Suggestive
attention deficit hyperactivity disorderOpen Targets
0.08Suggestive
hypothyroidismOpen Targets
0.07Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.06Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.06Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.06Suggestive
schizophrenia 15Open Targets
0.06Suggestive
Potocki-Lupski syndromeOpen Targets
0.05Suggestive
autismOpen Targets
0.05Suggestive
Phelan-McDermid syndromeOpen Targets
0.05Suggestive
heart diseaseOpen Targets
0.05Suggestive
epilepsy, progressive myoclonic, 12Open Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
X-linked non-syndromic intellectual disabilityOpen Targets
0.04Suggestive
X-linked dominant intellectual disability - epilepsy syndromeOpen Targets
0.03Suggestive
proximal renal tubular acidosisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PKD1L2Shared pathway100%PKD1L3Protein interaction60%PKD1L1Shared pathway50%CACHD1Shared pathway50%CACNA2D2Shared pathway50%PKDREJShared pathway49%
Tissue Expression6 tissues
Ovary
100%
Liver
88%
Lung
79%
Heart
77%
Bone Marrow
71%
Brain
70%
Gene Interaction Network
Click a node to explore
PKD2L2PKD1L2PKD1L3PKD1L1CACHD1CACNA2D2PKDREJ
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NZM6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.42–1.11]
RankingsWhere PKD2L2 stands among ~20K protein-coding genes
  • #17,144of 20,598
    Most Researched10
  • #11,386of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedPKD2L2
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Genetic insights into cardiac conduction disorders from genome-wide association studies.
PMID: 40022259
Hum Genomics · 2025
1.00
2
Molecular evolution of PKD2 gene family in mammals.
PMID: 19184643
Genetica · 2009
0.89
3
Identification and Expression Analysis of the Complete Family of Zebrafish
PMID: 28271061
Front Cell Dev Biol · 2017
0.78
4
Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: sequence, expression, alternative splicing, and chromosomal localization.
PMID: 10756092
Genomics · 2000
0.67
5
Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.
PMID: 36422197
Medicina (Kaunas) · 2022
0.56