Polycystic Kidney Disease 2 Like 1 Protein

From Anvita Health Wiki

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

Function

• may function as a subunit of an ion channel & act as a transducer of Ca+2-mediated signaling

Structure

• belongs to the polycystin family

Compartment

• membrane

Alternative-splicing

• named isoforms=4
• additional isoforms seem to exist
• unusual intron exon spliced junction

Expression

• expressed in adult heart, skeletal muscle, brain, spleen, testis, retina & liver
• expressed at high levels in fetal tissues, including kidney & liver [2]
• down-regulated in adult tissues [2]
• expressed in fetal brain, but not expressed in fetal lung, liver or kidney. [3]
• isoform 4 appears to be expressed only in transformed lymphoblasts

More General Terms

• transmembrane 6 protein
• polycystin

Additional Terms

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

Internet Database

Entrez gene: 9033
Kegg: [1]
OMIM: 604532
Prosite: [2]
UniProt: [3]

References

1. UniProt [4]
2. Nomura H et al Identification of PKDL, a novel polycystic kidney disease 2- like gene whose murine homologue is deleted in mice with kidney and retinal defects. J Biol Chem. 1998 Oct 2;273(40):25967-73 PMID: [5]
3. Veldhuisen B et al Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). Eur J Hum Genet. 1999 Dec;7(8):860-72 PMID: [6]

polycystic kidney disease 2-like 1 protein; polycystin-2L1; polycystin-L1; polycystin-L; polycystin-2 homolog (PKD2L1 PKD2L PKDL)