| http://purl.uniprot.org/citations/16192288 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16192288 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16192288 | http://www.w3.org/2000/01/rdf-schema#comment | "Polycystin-2 (or polycystic kidney disease gene 2 product, PKD2) and its homologues are calcium-regulated ion channels. Mutations in PKD2 are causative for autosomal dominant polycystic kidney disease. Alternative splicing has been documented for the 'PKD2-like' genes as a naturally occurring event and for PKD2 in pathologic context. Here we studied naturally occurring PKD2/Pkd2 (human/murine) splice forms on the mRNA and protein levels. Systematic scanning of PKD2/Pkd2 cDNAs obtained through RT-PCR from murine tissues and human cell lines revealed alternative splice forms that were sequenced and checked for translation. We identified three major alternative transcripts of PKD2/Pkd2, PKD2/Pkd2Delta6, PKD2/Pkd2Delta7 and PKD2/Pkd2Delta9, and one minor splice form, PKD2/Pkd2Delta12-13, numbered according to deleted exons or parts thereof. A transcript lacking exon 7 (PKD2/Pkd2Delta7) generated significantly altered protein variant. This polycystin-2Delta7 protein appeared stable, when expressed in cell culture and apparently did not interact with polycyctin-1, which should be due to the reversed topology (extracellular) of the interacting C-terminus (intracellular in polycystin-2). Pkd2Delta7 transcript was predominantly expressed in brain and amounted to 3-6.4% of Pkd2 transcripts in the relevant organ. Moreover, both Pkd2 and Pkd2Delta7 were developmentally regulated. Polycystin-2Delta7 adds on to the number of identified polycystin molecules. The predominant expression in brain indicates a function in this organ. The inability to interact with polycystin-1 expands further the PKD1-independent functions of polycystin-2 forms."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddi356"xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddi356"xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Gerke V."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Gerke V."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Horst J."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Horst J."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Qian F."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Qian F."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Bogdanova N."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Bogdanova N."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Markoff A."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Markoff A."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Germino G.G."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Germino G.G."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Pennekamp P."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Pennekamp P."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Dworniczak B."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Dworniczak B."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Hackmann K."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/author | "Hackmann K."xsd:string |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16192288 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |