Polycystic Kidney Disease Protein 2

From Anvita Health Wiki

Contents 1 Function 2 Structure 3 Compartment 4 Expression 5 Pathology 6 More General Terms 7 Additional Terms 8 Internet Database 9 References

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
• 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)

Internet Database

Entrez gene: 5311
Kegg: [1]
OMIM: 173900
OMIM: 173910
Prosite: [2]
Prosite: [3]
UniProt: [4]

References

1. UniProt [5]
2. GeneReviews [6]
3. Functional glycomics gateway - glycan binding Note: polycystin 2 - Not a C-type lectin [7]

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