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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.
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.
The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).
In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl
The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).
The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
PKD2-201
PKD2-202
PKD2-205
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)
Show all
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:0005886 [plasma membrane] GO:0005887 [integral component of 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:0007050 [cell cycle arrest] 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:0016021 [integral component of 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:0031941 [filamentous actin] 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:0043398 [HLH domain binding] GO:0044325 [ion channel 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: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:0071158 [positive regulation of cell cycle arrest] GO:0071277 [cellular response to calcium ion] GO:0071320 [cellular response to cAMP] GO:0071458 [integral component of cytoplasmic side of endoplasmic reticulum membrane] GO:0071464 [cellular response to hydrostatic pressure] GO:0071470 [cellular response to osmotic stress] GO:0071498 [cellular response to fluid shear stress] GO:0071556 [integral component of lumenal side of endoplasmic reticulum membrane] 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: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
