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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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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
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author Hörtenhuber, Matthias
Toledo, Enrique M
Smedler, Erik
Arenas, Ernest
Malmersjö, Seth
Louhivuori, Lauri
Uhlén, Per
author_facet Hörtenhuber, Matthias
Toledo, Enrique M
Smedler, Erik
Arenas, Ernest
Malmersjö, Seth
Louhivuori, Lauri
Uhlén, Per
author_sort Hörtenhuber, Matthias
collection PubMed
description 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.
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spelling pubmed-58707142018-04-05 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 Bioinformatics Original Papers 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. Oxford University Press 2017-08-15 2017-04-19 /pmc/articles/PMC5870714/ /pubmed/28430858 http://dx.doi.org/10.1093/bioinformatics/btx225 Text en © The Author 2017. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Original Papers
Hörtenhuber, Matthias
Toledo, Enrique M
Smedler, Erik
Arenas, Ernest
Malmersjö, Seth
Louhivuori, Lauri
Uhlén, Per
Mapping genes for calcium signaling and their associated human genetic disorders
title Mapping genes for calcium signaling and their associated human genetic disorders
title_full Mapping genes for calcium signaling and their associated human genetic disorders
title_fullStr Mapping genes for calcium signaling and their associated human genetic disorders
title_full_unstemmed Mapping genes for calcium signaling and their associated human genetic disorders
title_short Mapping genes for calcium signaling and their associated human genetic disorders
title_sort mapping genes for calcium signaling and their associated human genetic disorders
topic Original Papers
url 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
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