polycystic kidney disease 2-like 2 protein; polycystin-2L2; polycystin-L2 (PKD2L2)

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^[1]^[2]^[3]

Function

may function as a subunit of a cation channel & play a role in fertilization

Structure

belongs to the polycystin family

Compartment

membrane

Alternative splicing

named isoforms=5

Expression

expressed only in testis^[2]
also expressed in brain & kidney^[3]
isoform 2 is found only in transformed lymphoblasts
isoform 3 is found in all tissues tested

More general terms

Additional terms

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

References

↑ UniProt http://www.uniprot.org/uniprot/Q9NZM6.html
↑ ^2.0 ^2.1 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: https://www.ncbi.nlm.nih.gov/pubmed/10602361
↑ ^3.0 ^3.1 Guo L et al Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: sequence, expression, alternative splicing, and chromosomal localization. Genomics. 2000 Mar 15;64(3):241-51. PMID: https://www.ncbi.nlm.nih.gov/pubmed/10756092

Database

Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=27039
Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:27039
OMIM: https://mirror.omim.org/entry/604669
UniProt: http://www.uniprot.org/uniprot/Q9NZM6.html

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