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Mapping genes for calcium signaling and their associated human genetic disorders

MOTIVATION: Signal transduction via calcium ions (Ca(2+)) represents a fundamental signaling pathway in all eukaryotic cells. A large portion of the human genome encodes proteins used to assemble signaling systems that can transduce signals with diverse spatial and temporal dynamics. RESULTS: Here,...

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Detalles Bibliográficos
Autores principales: Hörtenhuber, Matthias, Toledo, Enrique M, Smedler, Erik, Arenas, Ernest, Malmersjö, Seth, Louhivuori, Lauri, Uhlén, Per
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870714/
https://www.ncbi.nlm.nih.gov/pubmed/28430858
http://dx.doi.org/10.1093/bioinformatics/btx225
Descripción
Sumario:MOTIVATION: Signal transduction via calcium ions (Ca(2+)) represents a fundamental signaling pathway in all eukaryotic cells. A large portion of the human genome encodes proteins used to assemble signaling systems that can transduce signals with diverse spatial and temporal dynamics. RESULTS: Here, we provide a map of all of the genes involved in Ca(2+) signaling and link these genes to human genetic disorders. Using Gene Ontology terms and genome databases, 1805 genes were identified as regulators or targets of intracellular Ca(2+) signals. Associating these 1805 genes with human genetic disorders uncovered 1470 diseases with mutated ‘Ca(2+) genes’. A network with scale-free properties appeared when the Ca(2+) genes were mapped to their associated genetic disorders. AVAILABILITY AND IMPLEMENTATION: The Ca(2+) genome database is freely available at http://cagedb.uhlenlab.org and will foster studies of gene functions and genetic disorders associated with Ca(2+) signaling. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.