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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins Potential drug targets Transporters Voltage-gated ion channels
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
4
Cytoband
q22.1
Chromosome location (bp)
88007635 - 88077777
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B 1. Can also form a functional, homotetrameric ion channel 2. Functions as a cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium 3. Functions as outward-rectifying K(+) channel, but is also permeable to Ca(2+), and to a much lesser degree also to Na(+) 4,5,6,7. May contribute to the release of Ca(2+) stores from the endoplasmic reticulum 8,9. Together with TRPV4, forms mechano- and thermosensitive channels in cilium 10. PKD1 and PKD2 may function through a common signaling pathway that is necessary to maintain the normal, differentiated state of renal tubule cells. Acts as a regulator of cilium length, together with PKD1. The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling. Also involved in left-right axis specification via its role in sensing nodal flow; forms a complex with PKD1L1 in cilia to facilitate flow detection in left-right patterning. Detection of asymmetric nodal flow gives rise to a Ca(2+) signal that is required for normal, asymmetric expression of genes involved in the specification of body left-right laterality (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Calcium channel, Ion channel, Potassium channel, Voltage-gated channel
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Calcium transport, Ion transport, Potassium transport, Transport, Wnt signaling pathway
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Metal-binding, Potassium
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Transporters Transporter channels and pores Voltage-gated ion channels Transient Receptor Potential Channels Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 7TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001822[kidney development] GO:0001889[liver development] GO:0001892[embryonic placenta development] GO:0001947[heart looping] GO:0002133[polycystin complex] GO:0003127[detection of nodal flow] GO:0005102[signaling receptor binding] GO:0005244[voltage-gated ion channel activity] GO:0005245[voltage-gated calcium channel activity] GO:0005248[voltage-gated sodium channel activity] GO:0005249[voltage-gated potassium channel activity] GO:0005261[cation channel activity] GO:0005262[calcium channel activity] GO:0005267[potassium channel activity] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005929[cilium] GO:0006811[ion transport] GO:0006813[potassium ion transport] GO:0006816[calcium ion transport] GO:0006874[cellular calcium ion homeostasis] GO:0007204[positive regulation of cytosolic calcium ion concentration] GO:0007259[receptor signaling pathway via JAK-STAT] GO:0007368[determination of left/right symmetry] GO:0007507[heart development] GO:0008092[cytoskeletal protein binding] GO:0008285[negative regulation of cell population proliferation] GO:0009925[basal plasma membrane] GO:0010628[positive regulation of gene expression] GO:0015267[channel activity] GO:0015271[outward rectifier potassium channel activity] GO:0016020[membrane] GO:0016055[Wnt signaling pathway] GO:0016323[basolateral plasma membrane] GO:0021510[spinal cord development] GO:0021915[neural tube development] GO:0022843[voltage-gated cation channel activity] GO:0030027[lamellipodium] GO:0030659[cytoplasmic vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0031514[motile cilium] GO:0031587[positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity] GO:0034614[cellular response to reactive oxygen species] GO:0034703[cation channel complex] GO:0034765[regulation of ion transmembrane transport] GO:0035502[metanephric part of ureteric bud development] GO:0035725[sodium ion transmembrane transport] GO:0035904[aorta development] GO:0036064[ciliary basal body] GO:0042127[regulation of cell population proliferation] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042805[actinin binding] GO:0042994[cytoplasmic sequestering of transcription factor] GO:0042995[cell projection] GO:0043227[membrane-bounded organelle] GO:0043398[HLH domain binding] GO:0044325[transmembrane transporter binding] GO:0044782[cilium organization] GO:0045180[basal cortex] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0045737[positive regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048763[calcium-induced calcium release activity] GO:0050982[detection of mechanical stimulus] GO:0051117[ATPase binding] GO:0051209[release of sequestered calcium ion into cytosol] GO:0051219[phosphoprotein binding] GO:0051262[protein tetramerization] GO:0051289[protein homotetramerization] GO:0051290[protein heterotetramerization] GO:0051298[centrosome duplication] GO:0051371[muscle alpha-actinin binding] GO:0051393[alpha-actinin binding] GO:0051649[establishment of localization in cell] GO:0051726[regulation of cell cycle] GO:0060170[ciliary membrane] GO:0060315[negative regulation of ryanodine-sensitive calcium-release channel activity] GO:0060674[placenta blood vessel development] GO:0061333[renal tubule morphogenesis] GO:0061441[renal artery morphogenesis] GO:0070062[extracellular exosome] GO:0070588[calcium ion transmembrane transport] GO:0071277[cellular response to calcium ion] GO:0071320[cellular response to cAMP] GO:0071464[cellular response to hydrostatic pressure] GO:0071470[cellular response to osmotic stress] GO:0071498[cellular response to fluid shear stress] GO:0071805[potassium ion transmembrane transport] GO:0071910[determination of liver left/right asymmetry] GO:0072075[metanephric mesenchyme development] GO:0072164[mesonephric tubule development] GO:0072177[mesonephric duct development] GO:0072208[metanephric smooth muscle tissue development] GO:0072214[metanephric cortex development] GO:0072218[metanephric ascending thin limb development] GO:0072219[metanephric cortical collecting duct development] GO:0072235[metanephric distal tubule development] GO:0072284[metanephric S-shaped body morphogenesis] GO:0072686[mitotic spindle] GO:0090279[regulation of calcium ion import] GO:0097730[non-motile cilium] GO:0098553[lumenal side of endoplasmic reticulum membrane] GO:0098554[cytoplasmic side of endoplasmic reticulum membrane] GO:0098662[inorganic cation transmembrane transport] GO:0198738[cell-cell signaling by wnt] GO:2000134[negative regulation of G1/S transition of mitotic cell cycle]
The Human Protein Atlas project is funded
