Description: Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA. RefSeq Summary (NM_000297): 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]. Transcript (Including UTRs) Position: hg19 chr4:88,928,799-88,998,931 Size: 70,133 Total Exon Count: 15 Strand: + Coding Region Position: hg19 chr4:88,928,886-88,996,846 Size: 67,961 Coding Exon Count: 15
ID:PKD2_HUMAN DESCRIPTION: RecName: Full=Polycystin-2; AltName: Full=Autosomal dominant polycystic kidney disease type II protein; AltName: Full=Polycystic kidney disease 2 protein; AltName: Full=Polycystwin; AltName: Full=R48321; FUNCTION: Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis (By similarity). Acts as a regulator of cilium length, together with PKD1 (By similarity). 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 (By similarity). Functions as a calcium permeable cation channel. SUBUNIT: Forms homooligomers. Isoform 1 interacts with PKD1 while isoform 3 does not (By similarity). PKD1 requires the presence of PKD2 for stable expression. Interacts with CD2AP. Interacts with HAX1. Interacts with NEK8 (By similarity). Part of a complex containing AKAP5, ADCY5, ADCY6 and PDE4C (By similarity). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). Endoplasmic reticulum. Cell projection, cilium (By similarity). TISSUE SPECIFICITY: Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected in peripheral leukocytes. DOMAIN: The C-terminal coiled-coil domain binds calcium and undergoes a calcium-induced conformation change. It is implicated in oligomerization and the interaction with PKD1. DISEASE: Defects in PKD2 are the cause of polycystic kidney disease 2 (PKD2) [MIM:613095]. PKD2 is a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life expectancy. SIMILARITY: Belongs to the polycystin family. SIMILARITY: Contains 1 EF-hand domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKD2"; WEB RESOURCE: Name=Functional Glycomics Gateway - Glycan Binding; Note=Polycystin 2 - Not a C-type lectin; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_205";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13563
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: 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:0003127 detection of nodal flow 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 JAK-STAT cascade GO:0007368 determination of left/right symmetry GO:0007507 heart development GO:0008285 negative regulation of cell proliferation GO:0010628 positive regulation of gene expression GO:0021510 spinal cord development GO:0021915 neural tube development GO:0030814 regulation of cAMP metabolic process GO:0031587 positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity GO:0031659 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0034614 cellular response to reactive oxygen species 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:0042127 regulation of cell proliferation GO:0042994 cytoplasmic sequestering of transcription factor GO:0045429 positive regulation of nitric oxide biosynthetic process GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0050982 detection of mechanical stimulus GO:0051209 release of sequestered calcium ion into cytosol GO:0051289 protein homotetramerization GO:0051298 centrosome duplication 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: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: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:0072001 renal system development 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:0090279 regulation of calcium ion import GO:2000134 negative regulation of G1/S transition of mitotic cell cycle
Protein Q13563 (Reactome details) participates in the following event(s):
R-HSA-5620914 ARF4:GTP binds VxPx-motifs of membrane proteins R-HSA-5620918 ASAP1 dimer binds membrane proteins R-HSA-5623519 RAB3IP and RAB8A bind to the ciliary targeting complex R-HSA-5623513 ASAP1 stimulates GTPase activity of ARF4 R-HSA-5620921 ASAP1 recruits RAB11FIP3 and RAB11 to the ciliary targeting complex R-HSA-5623521 RAB3IP stimulates nucleotide exchange on RAB8A R-HSA-5623524 The exocyst complex binds to RAB3IP in the ciliary targeting complex R-HSA-5620916 VxPx cargo-targeting to cilium R-HSA-5620920 Cargo trafficking to the periciliary membrane R-HSA-5617833 Cilium Assembly R-HSA-1852241 Organelle biogenesis and maintenance
US Server
