polycystin-2; polycystic kidney disease 2 protein; autosomal dominant polycystic kidney disease type II protein; polycystwin; R48321 (PKD2)

Function

• Ca+2 permeable cation channel
• PKD1 & PKD2 may function through a common signaling pathway necessary for normal tubulogenesis
• forms homooligomers
• interacts with PKD1
• PKD1 requires the presence of PKD2 for stable expression
• interacts with CD2AP interacts with HAX1

Structure

• C-terminal coiled-coil domain binds Ca+2 & undergoes a Ca+2-induced conformation change
• implicated in oligomerization & interaction with PKD1
• belongs to the polycystin family
• contains 1 EF-hand domain

Compartment

• membrane (putative)
• endoplasmic reticulum

Expression

• strongly expressed in ovary, fetal & adult kidney, testis, & small intestine
• not detected in peripheral leukocytes

Pathology

• defects in PKD2 are the cause of autosomal dominant polycystic kidney disease type 2

More general terms

• transmembrane 6 protein
• polycystin
• Ca+2 channel
• phosphoprotein

Additional terms

• adult polycystic kidney disease; autosomal dominant polycystic kidney disease
• polycystic kidney disease 2-like 1 protein; polycystin-2L1; polycystin-L1; polycystin-L; polycystin-2 homolog (PKD2L1 PKD2L PKDL)
• polycystic kidney disease 2-like 2 protein; polycystin-2L2; polycystin-L2 (PKD2L2)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5311
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5311
• OMIM: https://mirror.omim.org/entry/173900
• OMIM: https://mirror.omim.org/entry/173910
• UniProt: http://www.uniprot.org/uniprot/Q13563.html