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Mapping genes for calcium signaling and their associated human genetic disorders.
Hörtenhuber, Matthias; Toledo, Enrique M; Smedler, Erik; Arenas, Ernest; Malmersjö, Seth; Louhivuori, Lauri; Uhlén, Per.
Afiliación
  • Hörtenhuber M; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, SE-171 77 Stockholm, Sweden.
  • Toledo EM; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, SE-171 77 Stockholm, Sweden.
  • Smedler E; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, SE-171 77 Stockholm, Sweden.
  • Arenas E; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, SE-171 77 Stockholm, Sweden.
  • Malmersjö S; Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Louhivuori L; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, SE-171 77 Stockholm, Sweden.
  • Uhlén P; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, SE-171 77 Stockholm, Sweden.
Bioinformatics ; 33(16): 2547-2554, 2017 Aug 15.
Article en En | MEDLINE | ID: mdl-28430858
ABSTRACT
MOTIVATION Signal transduction via calcium ions (Ca2+) 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 Ca2+ 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 Ca2+ signals. Associating these 1805 genes with human genetic disorders uncovered 1470 diseases with mutated 'Ca2+ genes'. A network with scale-free properties appeared when the Ca2+ genes were mapped to their associated genetic disorders. AVAILABILITY AND IMPLEMENTATION The Ca2+ genome database is freely available at http//cagedb.uhlenlab.org and will foster studies of gene functions and genetic disorders associated with Ca2+ signaling. CONTACT per.uhlen@ki.se. SUPPLEMENTARY INFORMATION Supplementary data are available at Bioinformatics online.
Asunto(s)

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Genoma Humano / Mapeo Cromosómico / Señalización del Calcio / Bases de Datos Genéticas Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Año: 2017 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Genoma Humano / Mapeo Cromosómico / Señalización del Calcio / Bases de Datos Genéticas Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Año: 2017 Tipo del documento: Article