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PKD2 polycystic kidney disease 2 (autosomal dominant) [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu26897 NM_000297 Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu26897C NM_000297 Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA. Customized vector On-demand TBD $329.00

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Gene Symbol PKD2
Entrez Gene ID 5311
Full Name polycystic kidney disease 2 (autosomal dominant)
Synonyms APKD2, PC2, PKD4, Pc-2, TRPP2
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

4

4q22.1

Summary 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].
Disorder

MIM: 173910

Polycystic kidney disease 2, 613095 (3)

mRNA Protein Product Sequence Price Select
NM_000297, 325121002 NP_000288, 4505835 polycystin-2 ORF Sequence $750.00
Homo sapiens (human)PKD2NP_000288.1
Pan troglodytes (chimpanzee)PKD2XP_003310458.1
Macaca mulatta (Rhesus monkey)PKD2XP_001099242.1
Canis lupus familiaris (dog)PKD2XP_544974.2
Bos taurus (cattle)PKD2NP_001039777.1
Mus musculus (house mouse)Pkd2NP_032887.3
Rattus norvegicus (Norway rat)Pkd2NP_001178863.1
Gallus gallus (chicken)PKD2NP_001026311.1
Danio rerio (zebrafish)pkd2NP_001002310.1
Caenorhabditis eleganspkd-2NP_502838.3
Xenopus (Silurana) tropicalis (western clawed frog)pkd2XP_002938673.2
Process
IDNameEvidence
GO:0001658branching involved in ureteric bud morphogenesisIEP
GO:0001889liver developmentIEP
GO:0001892embryonic placenta developmentISS
GO:0001947heart loopingIMP
GO:0003127detection of nodal flowISS
GO:0006816calcium ion transportIDA
GO:0006816calcium ion transportISS
GO:0007050cell cycle arrestISS
GO:0007259JAK-STAT cascadeISS
GO:0007368determination of left/right symmetryISS
GO:0007507heart developmentIEP
GO:0008285negative regulation of cell proliferationNAS
GO:0021510spinal cord developmentIEP
GO:0021915neural tube developmentIEP
GO:0030814regulation of cAMP metabolic processISS
GO:0031587positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activityIMP
GO:0031659positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycleIDA
GO:0034614cellular response to reactive oxygen speciesNAS
GO:0035502metanephric part of ureteric bud developmentIEP
GO:0035725sodium ion transmembrane transportIDA
GO:0035904aorta developmentIEP
GO:0042127regulation of cell proliferationIMP
GO:0042994cytoplasmic sequestering of transcription factorIMP
GO:0045429positive regulation of nitric oxide biosynthetic processIMP
GO:0045944positive regulation of transcription from RNA polymerase II promoterIDA
GO:0045944positive regulation of transcription from RNA polymerase II promoterIMP
GO:0050982detection of mechanical stimulusIBA
GO:0050982detection of mechanical stimulusISS
GO:0051209release of sequestered calcium ion into cytosolIDA
GO:0051209release of sequestered calcium ion into cytosolIMP
GO:0051298centrosome duplicationNAS
GO:0060315negative regulation of ryanodine-sensitive calcium-release channel activityISS
GO:0060674placenta blood vessel developmentISS
GO:0061333renal tubule morphogenesisISS
GO:0061441renal artery morphogenesisIEP
GO:0070588calcium ion transmembrane transportIDA
GO:0071158positive regulation of cell cycle arrestIMP
GO:0071464cellular response to hydrostatic pressureIDA
GO:0071470cellular response to osmotic stressIDA
GO:0071498cellular response to fluid shear stressIMP
GO:0071805potassium ion transmembrane transportIEA
GO:0071910determination of liver left/right asymmetryIMP
GO:0072075metanephric mesenchyme developmentIEP
GO:0072164mesonephric tubule developmentIEP
GO:0072177mesonephric duct developmentIEP
GO:0072208metanephric smooth muscle tissue developmentIEP
GO:0072214metanephric cortex developmentIEP
GO:0072218metanephric ascending thin limb developmentIEP
GO:0072219metanephric cortical collecting duct developmentIEP
GO:0072235metanephric distal tubule developmentIEP
GO:0072284metanephric S-shaped body morphogenesisIEP
GO:0090279regulation of calcium ion importIDA
GO:2000134negative regulation of G1/S transition of mitotic cell cycleIMP
Component
IDNameEvidence
GO:0002133polycystin complexISS
GO:0005737cytoplasmIDA
GO:0005737cytoplasmIMP
GO:0005783endoplasmic reticulumIDA
GO:0005783endoplasmic reticulumIMP
GO:0005789endoplasmic reticulum membraneIDA
GO:0005886plasma membraneIDA
GO:0005887integral component of plasma membraneIDA
GO:0005911cell-cell junctionISS
GO:0005929ciliumISS
GO:0009925basal plasma membraneIDA
GO:0030027lamellipodiumIDA
GO:0031512motile primary ciliumISS
GO:0031513nonmotile primary ciliumISS
GO:0031941filamentous actinIDA
GO:0036064ciliary basal bodyIDA
GO:0045180basal cortexIDA
GO:0060170ciliary membraneIEA
GO:0070062extracellular vesicular exosomeIDA
GO:0071458integral component of cytoplasmic side of endoplasmic reticulum membraneIDA
GO:0071556integral component of lumenal side of endoplasmic reticulum membraneIDA
GO:0072686mitotic spindleIDA
Function
IDNameEvidence
GO:0005102receptor bindingIPI
GO:0005244voltage-gated ion channel activityIDA
GO:0005245voltage-gated calcium channel activityIDA
GO:0005248voltage-gated sodium channel activityIDA
GO:0005267potassium channel activityISS
GO:0005509calcium ion bindingISS
GO:0005515protein bindingIPI
GO:0008092cytoskeletal protein bindingIDA
GO:0022843voltage-gated cation channel activityIDA
GO:0042802identical protein bindingIPI
GO:0042802identical protein bindingISS
GO:0042803protein homodimerization activityIDA
GO:0042805actinin bindingIDA
GO:0043398HLH domain bindingIPI
GO:0044325ion channel bindingIPI
GO:0048763calcium-induced calcium release activityIDA
GO:0051117ATPase bindingISS
GO:0051219phosphoprotein bindingIPI
GO:0051371muscle alpha-actinin bindingIEA
GeneCards PKD2
UniProt Q13563, Q9UEU6
Vega OTTHUMG00000160982
MIM 173910
Ensembl ENSG00000118762
HGNC 9009
HPRD 01437

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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