Mapping genes for calcium signaling and their associated human genetic disorders.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 28430858.
- Also identified by DOI 10.1093/bioinformatics/btx225 and PMC identifier 5870714.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Calcium Signaling
- Chromosome Mapping
- Databases, Genetic
- Genome, Human