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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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PKD1L2
polycystin 1 like 2 (gene/pseudogene)
Chromosome 16 Β· 16q23.2
NCBI Gene: 114780Ensembl: ENSG00000166473.20HGNC: HGNC:21715UniProt: A0AAG2UWM0
20PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
detection of mechanical stimuluscalcium channel activitymembranecalcium ion transmembrane transportpoisoningstomach diseasemarfanoid habitus and intellectual disabilityAbnormality of the immune system
✦AI Summary

PKD1L2 encodes polycystin-1L2, a member of the TRPP (transient receptor potential polycystic) channel family that functions as a G-protein-coupled receptor 1. The protein contains 11 transmembrane domains, receptor for egg jelly domains, and G-protein-coupled receptor signatures, with multiple splice variants producing proteins of 1775 or 2460 amino acids 1. PKD1L2 demonstrates calcium channel activity and mechanosensitive properties, consistent with its classification as a TRPP channel 2. The protein binds to specific G-protein subunits and associates with fatty acid synthase in skeletal muscle, localizing to costameric regions 13. PKD1L2 plays a critical role in neuromuscular integrity, as upregulation causes severe muscle atrophy, neuromuscular junction degeneration, and myopathy in mice 3. Copy number variations in PKD1L2 are associated with increased colorectal cancer risk, particularly in younger patients and those with higher BMI 4. The gene is also implicated in breast cancer prognosis prediction models and shows altered expression during Zika virus infection in neural cells 56. These findings establish PKD1L2 as a multifunctional channel protein with roles in G-protein signaling, neuromuscular function, and disease susceptibility.

Sources cited
1
PKD1L2 encodes polycystin-1L2 with G-protein-coupled receptor function, 11 transmembrane domains, and ability to bind G-protein subunits
PMID: 15203210
2
PKD1L2 upregulation causes muscle atrophy, neuromuscular junction degeneration, and associates with fatty acid synthase in skeletal muscle
PMID: 19578180
3
PKD1L2 is a TRPP channel family member with calcium channel activity and mechanosensitive properties
PMID: 24756726
4
PKD1L2 copy number variations are associated with increased colorectal cancer risk, especially in younger patients and those with higher BMI
PMID: 27605020
5
PKD1L2 is included in breast cancer prognosis prediction models
PMID: 31493508
6
PKD1L2 shows altered expression during Zika virus infection in neural cells
PMID: 38512822
Disease Associationsβ“˜20
poisoningOpen Targets
0.24Weak
stomach diseaseOpen Targets
0.12Weak
marfanoid habitus and intellectual disabilityOpen Targets
0.12Weak
Abnormality of the immune systemOpen Targets
0.10Suggestive
liver diseaseOpen Targets
0.08Suggestive
Female infertility due to fertilization defectOpen Targets
0.07Suggestive
early-onset non-syndromic cataractOpen Targets
0.07Suggestive
Total congenital cataractOpen Targets
0.06Suggestive
Cataract-microcornea syndromeOpen Targets
0.06Suggestive
Partial congenital cataractOpen Targets
0.06Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.06Suggestive
oocyte maturation defect 14Open Targets
0.06Suggestive
oocyte maturation defect 5Open Targets
0.06Suggestive
isolated ectopia lentisOpen Targets
0.06Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.06Suggestive
early-onset nuclear cataractOpen Targets
0.06Suggestive
Hydatidiform MoleOpen Targets
0.05Suggestive
early-onset zonular cataractOpen Targets
0.05Suggestive
Posterior polar cataractOpen Targets
0.05Suggestive
oocyte maturation defect 13Open Targets
0.05Suggestive
Pathogenic Variants1
NM_052892.5(PKD1L2):c.6431C>G (p.Thr2144Ser)Likely pathogenic
Otosclerosis 4
β˜…β˜†β˜†β˜†2024β†’ Residue 2144
View on ClinVar β†—
Related Genes
PKD2L2Shared pathway100%PLCB2Protein interaction98%PKD2L1Protein interaction95%TRPC1Protein interaction82%TAS1R1Protein interaction80%PKD1L3Protein interaction71%
Tissue Expression6 tissues
Heart
100%
Ovary
26%
Liver
22%
Brain
9%
Lung
8%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PKD1L2PKD2L2PLCB2PKD2L1TRPC1TAS1R1PKD1L3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q7Z442
View on AlphaFold β†—
RankingsWhere PKD1L2 stands among ~20K protein-coding genes
  • #14,225of 20,598
    Most Researched20
  • #5,379of 5,498
    Most Pathogenic Variants1
Genes detectedPKD1L2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Polycystin-1L2 is a novel G-protein-binding protein.
PMID: 15203210
Genomics Β· 2004
1.00
2
Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse.
PMID: 19578180
Hum Mol Genet Β· 2009
0.90
3
The TRPP subfamily and polycystin-1 proteins.
PMID: 24756726
Handb Exp Pharmacol Β· 2014
0.80
4
A copy number variation in PKD1L2 is associated with colorectal cancer predisposition in korean population.
PMID: 27605020
Int J Cancer Β· 2017
0.70
5
Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes.
PMID: 12782129
Genomics Β· 2003
0.60