PKD2 (polycystin 2, transient receptor potential cation channel)

2003-05-01  

Identity

HGNC
LOCATION
4q22.1
LOCUSID
ALIAS
APKD2,PC2,PKD4,Pc-2,TRPP2
FUSION GENES

Other Information

Locus ID:

NCBI: 5311
MIM: 173910
HGNC: 9009
Ensembl: ENSG00000118762

Variants:

dbSNP: 5311
ClinVar: 5311
TCGA: ENSG00000118762
COSMIC: PKD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118762ENST00000237596Q13563
ENSG00000118762ENST00000502363B4DFN3
ENSG00000118762ENST00000508588B4DFN3

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
VxPx cargo-targeting to ciliumREACTOMER-HSA-5620916

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA448320allopurinolChemicalClinicalAnnotation, VariantAnnotationassociatedPD30924126

References

Pubmed IDYearTitleCitations
118547512002Polycystin-2 is an intracellular calcium release channel.218
191583522009Characterization of PKD protein-positive exosome-like vesicles.124
192650362009Ciliary polycystin-2 is a mechanosensitive calcium channel involved in nitric oxide signaling cascades.100
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
163116062005Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loop-helix inhibitor Id2.81
172830552007Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia.81
162237352005Polycystin 2 interacts with type I inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling.70
157800762005Molecular pathogenesis of ADPKD: the polycystin complex gets complex.69
277688952016The Structure of the Polycystic Kidney Disease Channel PKD2 in Lipid Nanodiscs.69
202196152010Molecular advances in autosomal dominant polycystic kidney disease.68

Citation

Dessen P

PKD2 (polycystin 2, transient receptor potential cation channel)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41726/pkd2