PKD2L1 Gene Summary [Human]

This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Details

Type
Protein Coding
Official Symbol
PKD2L1
Official Name
polycystin 2 like 1, transient receptor potential cation channel [Source:HGNC Symbol;Acc:HGNC:9011]
Ensembl ID
ENSG00000107593
Bio databases IDs NCBI: 9033 Ensembl: ENSG00000107593
Aliases polycystin 2 like 1, transient receptor potential cation channel, transient receptor potential cation channel, subfamily P, member 3, polycystin-L
Synonyms B830002B15, BC046386, PCL, PKD2L, PKDL, polycystic kidney disease 2-like 1, polycystin-2L, polycystin 2 like 1, transient receptor potential cation channel, TRPP3
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PKD2L1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Ferredoxin I 4Fe-4S cluster domain
  • identical protein binding
  • ion channel
  • taste receptor
  • cytoskeletal protein binding
  • cytoplasmic domain
  • Polycystin domain
  • ion channel binding
  • extracellular loop
  • loop domain
  • Polycystin cation channel
  • calcium activated cation channel
  • osmosensor
  • sodium channel
  • Ion transport protein
  • calcium channel
  • channel/pore class transporter
  • actinin binding
  • EF-hand domain pair
  • calcium-activated potassium channel
  • calcium ion binding
  • EFh
  • inorganic uptake permease
  • protein binding
  • cation transporter
  • ligand-gated ion channel
  • cation channel

Pathways

Biological processes and signaling networks where the PKD2L1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • coronary artery disease
  • lung squamous cell carcinoma
  • squamous cell lung cancer
  • biliary tract disease
  • dermatological disorder
  • kainic acid-induced epileptic seizure
  • cardiovascular disorder
regulated by
regulates
role in cell
  • expression in
  • excitability
  • length
  • conductance

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • intracellular membrane-bounded organelle
  • non-motile cilium
  • cell surface
  • cellular membrane
  • actin cytoskeleton
  • Endoplasmic Reticulum
  • cytosol
  • primary cilia

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PKD2L1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • potassium ion transmembrane transport
  • sensory perception of sour taste
  • smoothened signaling pathway
  • detection of chemical stimulus involved in sensory perception of sour taste
  • response to water
  • detection of mechanical stimulus
  • cation transport
  • protein homotetramerization
  • calcium ion transmembrane transport
  • cellular response to acidity
  • sodium ion transmembrane transport
  • detection of chemical stimulus involved in sensory perception of taste

Cellular Component

Where in the cell the gene product is active
  • calcium channel complex
  • intracellular membrane-bounded organelle
  • membrane
  • actin cytoskeleton
  • cytosol
  • cytoplasmic vesicle
  • receptor complex
  • cilium membrane
  • endoplasmic reticulum
  • plasma membrane
  • cell surface

Molecular Function

What the gene product does at the molecular level
  • calcium-activated potassium channel activity
  • sour taste receptor activity
  • identical protein binding
  • calcium channel activity
  • sodium channel activity
  • cation channel activity
  • cation transmembrane transporter activity
  • alpha-actinin binding
  • muscle alpha-actinin binding
  • ion channel binding
  • calcium activated cation channel activity
  • protein binding
  • calcium ion binding
  • cytoskeletal protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.