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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
Related
adult polycystic kidney disease; autosomal dominant polycystic kidney disease
PKD1+PKD2 gene mutations
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)
General
Ca+2 channel
phosphoprotein
polycystin
transmembrane 6 protein
Properties
SIZE: entity length = 968 aa
MW = 110 kD
COMPARTMENT: endoplasmic reticulum
MOTIF: cytoplasmic domain {1-223}
MOTIF: glutamate-rich region {95-107}
MOTIF: glutamate residue (SEVERAL)
arginine-rich region {153-157}
MOTIF: arginine residue (SEVERAL)
Ser phosphorylation site {S166}
transmembrane domain {224-244}
exoplasmic loop {245-468}
MOTIF: Ser phosphorylation site {S254}
Thr phosphorylation site {T260}
Ser phosphorylation site {S263}
N-glycosylation site {N299}
N-glycosylation site {N305}
Polycystin {316-328}
N-glycosylation site {N328}
N-glycosylation site {N362}
N-glycosylation site {N375}
transmembrane domain {469-489}
cytoplasmic loop {490-505}
transmembrane domain {506-526}
exoplasmic loop {527-550}
transmembrane domain {551-571}
cytoplasmic loop {572-598}
transmembrane domain {599-619}
exoplasmic loop {620-658}
transmembrane domain {659-679}
cytoplasmic domain {680-968}
MOTIF: EF-hand {704-794}
EF hand
SITE: 750-785
Ca+2-binding site
SITE: 763-774
Linker {803-822}
Ser phosphorylation site {S812}
coiled coil {828-968}
coiled coil {838-926}
Ser phosphorylation site {S852}
Ser phosphorylation site {S858}
ION-PERMEABILITY: Ca+2
Database Correlations
OMIM correlations
MORBIDMAP 173910
UniProt Q13563
Entrez Gene 5311
Kegg hsa:5311
References
- UniProt :accession Q13563
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/PKD2
- Functional glycomics gateway - glycan binding
Note: polycystin 2 - Not a C-type lectin
http://www.functionalglycomics.org/glycomics/GBPServlet?&operationtype=view&cbpId=cbp_hum_Ctlect_205