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Bioinformatics. 2017 Aug 15;33(16):2547-2554. doi: 10.1093/bioinformatics/btx225.

Mapping genes for calcium signaling and their associated human genetic disorders.

Author information

1
Department of Medical Biochemistry and Biophysics, Karolinska Institutet, SE-171 77 Stockholm, Sweden.
2
Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.

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.

PMID:
28430858
PMCID:
PMC5870714
DOI:
10.1093/bioinformatics/btx225
[Indexed for MEDLINE]
Free PMC Article

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