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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000297 Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA. GenEZ ORF Cloning On-demand TBD TBD

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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?

What is the normal function of the PKD2 gene?

The PKD2 gene provides instructions for making a protein called polycystin-2. This protein is found in the kidneys before birth and in many adult tissues. Although its exact function is not well understood, polycystin-2 can be regulated by a larger, somewhat similar protein called polycystin-1.

Polycystin-2 likely functions as a channel spanning the cell membrane of kidney cells. In conjunction with polycystin-1, the channel transports positively charged atoms (ions), particularly calcium ions, into the cell. This influx of calcium ions triggers a cascade of chemical reactions inside the cell that may instruct the cell to undergo certain changes, such as maturing to take on specialized functions. Polycystin-1 and polycystin-2 likely work together to help regulate cell growth and division (proliferation), cell movement (migration), and interactions with other cells.

Polycystin-2 is also active in other parts of the cell, including cellular structures called primary cilia. Primary cilia are tiny, fingerlike projections that line the small tubes where urine is formed (renal tubules). Researchers believe that primary cilia sense the movement of fluid through these tubules, which appears to help maintain the tubules' size and structure. The interaction of polycystin-1 and polycystin-2 in renal tubules promotes the normal development and function of the kidneys.

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