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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,...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2017
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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. |
format | Online Article Text |
id | pubmed-5870714 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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