Version 5.4
Homo sapiens Gene: PKD2
Summary
InnateDB Gene IDBG-29443.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PKD2
Gene Name polycystic kidney disease 2 (autosomal dominant)
Synonyms APKD2; Pc-2; PC2; PKD4; TRPP2
Species Homo sapiens
Ensembl Gene ENSG00000118762
Encoded Proteins
IDBP-29445
polycystic kidney disease 2 (autosomal dominant)
IDBP-485229
polycystic kidney disease 2 (autosomal dominant)
IDBP-482394
polycystic kidney disease 2 (autosomal dominant)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:88007668-88077777
Strand Forward strand
Band q22.1
Transcripts
ENST00000237596 ENSP00000237596
ENST00000506727
ENST00000506367
ENST00000508588 ENSP00000427131
ENST00000511337
ENST00000512858
ENST00000502363 ENSP00000425289
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 26 [view]
Protein-Protein 25 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005102 receptor binding
GO:0005216 ion channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005245 voltage-gated calcium channel activity
GO:0005248 voltage-gated sodium channel activity
GO:0005267 potassium channel activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008092 cytoskeletal protein binding
GO:0015267 channel activity
GO:0022843 voltage-gated cation channel activity
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0042805 actinin binding
GO:0043398 HLH domain binding
GO:0044325 ion channel binding
GO:0048763 calcium-induced calcium release activity
GO:0051117 ATPase binding
GO:0051219 phosphoprotein binding
GO:0051371 muscle alpha-actinin binding
GO:0051393 alpha-actinin binding
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: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 kinase activity involved in G1/S
GO:0034614 cellular response to reactive oxygen species
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:0051298 centrosome duplication
GO:0055085 transmembrane transport
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: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
Cellular Component
GO:0002133 polycystin complex
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005911 cell-cell junction
GO:0005929 cilium
GO:0009925 basal plasma membrane
GO:0016020 membrane
GO:0030027 lamellipodium
GO:0031512 motile primary cilium
GO:0031513 nonmotile primary cilium
GO:0031941 filamentous actin
GO:0036064 ciliary basal body
GO:0045180 basal cortex
GO:0060170 ciliary membrane
GO:0070062 extracellular vesicular exosome
GO:0071458 integral component of cytoplasmic side of endoplasmic reticulum membrane
GO:0071556 integral component of lumenal side of endoplasmic reticulum membrane
GO:0072686 mitotic spindle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000034462
View Gene Order
ENSBTAG00000020031
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.181272 Hs.604393
RefSeq NM_000297
HUGO
OMIM
CCDS CCDS3627
HPRD 01437
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca