PKD2 Gene Summary [Human]
This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
Details
| Type | Protein Coding |
| Official Symbol | PKD2 |
| Official Name | polycystin 2, transient receptor potential cation channel [Source:HGNC Symbol;Acc:HGNC:9009] |
| Ensembl ID | ENSG00000118762 |
| Bio databases IDs | |
| Aliases | polycystin 2, transient receptor potential cation channel, transient receptor potential cation channel, subfamily P, member 2 |
| Synonyms | APKD2, C030034P18RIK, PC2, PKD4, Polycystin 2, polycystin 2, transient receptor potential cation channel, RGD1559992, TRPP2 |
| Species | Human, Homo sapiens |
| Orthologies |
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 PKD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- EF-Hand
- phosphoprotein binding
- coiled-coil domain
- Ferredoxin I 4Fe-4S cluster domain
- identical protein binding
- ion channel
- cytoskeletal protein binding
- cytoplasmic domain
- Polycystin domain
- intracellular domain
- ion channel binding
- extracellular loop
- loop domain
- Polycystin cation channel
- potassium channel
- outward rectifier potassium channel
- sodium channel
- Ion transport protein
- calcium channel
- channel/pore class transporter
- actinin binding
- calcium ion binding
- protein domain specific binding
- protein binding
- receptor binding
- acidic domain
- calcium-release channel
- voltage-gated calcium channel
- voltage-gated sodium channel
- ATPase binding
- voltage-gated potassium channel
- ER retention sequence
- transmembrane domain
- protein homodimerization
- cytosolic tail domain
- voltage-gated ion channel
- cation channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- polycystic kidney disease
- autosomal dominant polycystic kidney disease type 2
- autosomal dominant polycystic kidney disease
- hereditary disorder
- bleeding
- kidney disease
- gout
- autosomal dominant polycystic liver disease
- atrioventricular septal defect
- ventricular septal defect
role in cell
- degradation in
- proliferation
- fragmentation
- calcium oscillation
- G2 phase
- response by
- calcium response
- molecular cleavage in
- phosphorylation in
- activation in
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
- plasma membrane fraction
- membrane vesicles
- endoplasmic reticulum fraction
- Golgi-enriched fraction
- membrane fraction
- insoluble fractions
- motile cilia
- microtubule cytoskeleton
- endoplasmic reticulum mitochondria contact site
- intracellular membrane-bounded organelle
- non-motile cilium
- Cytoplasm
- cilia
- intracellular space
- cellular membrane
- basal bodies
- sarcoplasmic reticulum
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- centriole
- microtubules
- intercellular junctions
- cell-cell contacts
- cytosol
- primary cilia
- endoplasmic reticulum membrane
- apical membrane
- basal membrane
- perinuclear space
- spindle fibers
- nuclear envelope
- mitotic spindle
- perikaryon
- exosomes
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PKD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neural tube development
- renal tubule morphogenesis
- protein heterotetramerization
- spinal cord development
- JAK-STAT cascade
- detection of nodal flow
- protein homotetramerization
- cellular response to fluid shear stress
- heart looping
- Wnt receptor signaling pathway
- establishment of localization in cell
- regulation of cell cycle
- release of sequestered calcium ion into cytosol
- calcium-mediated signaling
- renal artery morphogenesis
- potassium ion transmembrane transport
- placenta blood vessel development
- negative regulation of ryanodine-sensitive calcium-release channel activity
- aorta development
- centrosome duplication
- positive regulation of gene expression
- cellular response to cAMP
- mesonephric duct development
- metanephric cortex development
- cellular response to reactive oxygen species
- metanephric cortical collecting duct development
- positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
- metanephric ascending thin limb development
- metanephric ureteric bud development
- positive regulation of nitric oxide biosynthetic process
- regulation of calcium ion import
- negative regulation of cell proliferation
- positive regulation of transcription from RNA polymerase II promoter
- embryonic placenta development
- mesonephric tubule development
- heart development
- metanephric S-shaped body morphogenesis
- cellular response to osmotic stress
- cellular response to calcium ion
- liver development
- protein tetramerization
- calcium ion transport
- calcium ion transmembrane transport
- negative regulation of G1/S transition of mitotic cell cycle
- metanephric smooth muscle tissue development
- determination of liver left/right asymmetry
- cell surface receptor signaling pathway
- determination of left/right symmetry
- regulation of cell proliferation
- cellular calcium ion homeostasis
- elevation of cytosolic calcium ion concentration
- detection of mechanical stimulus
- metanephric mesenchyme development
- cellular response to hydrostatic pressure
- metanephric distal tubule development
- branching involved in ureteric bud morphogenesis
- sodium ion transmembrane transport
Cellular Component
Where in the cell the gene product is active
- cilium basal body
- endoplasmic reticulum
- Golgi apparatus
- polycystin complex
- plasma membrane
- endoplasmic reticulum membrane
- cytoplasmic vesicle membrane
- motile cilium
- basal plasma membrane
- cell-cell junction
- extracellular vesicular exosome
- mitotic spindle
- cytoplasm
- membrane
- cilium
- cytosol
- cilium membrane
- cation channel complex
- basal cortex
- basolateral plasma membrane
- lamellipodium
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein homodimerization activity
- actinin binding
- calcium channel activity
- cation channel activity
- HLH domain binding
- voltage-gated cation channel activity
- muscle alpha-actinin binding
- outward rectifier potassium channel activity
- voltage-gated ion channel activity
- voltage-gated calcium channel activity
- receptor binding
- ion channel binding
- potassium channel activity
- voltage-gated sodium channel activity
- voltage-gated potassium channel activity
- protein binding
- calcium-induced calcium release activity
- calcium ion binding
- phosphoprotein binding
- cytoskeletal protein binding
- ATPase binding