Mapping genes for calcium signaling and their associated human genetic disorders

被引：17
|
作者：
Hortenhuber, Matthias [1 ]
Toledo, Enrique M. [1 ]
Smedler, Erik [1 ]
Arenas, Ernest [1 ]
Malmersjo, Seth [2 ]
Louhivuori, Lauri [1 ]
Uhlen, Per [1 ]
机构：
[1] Karolinska Inst, Dept Med Biochem & Biophys, SE-17177 Stockholm, Sweden
[2] Stanford Univ, Sch Med, Dept Chem & Syst Biol, Stanford, CA 94305 USA
来源：
BIOINFORMATICS | 2017年 / 33卷 / 16期
基金：
瑞典研究理事会;
关键词：
INHERITED DISORDERS; CHANNELS; MECHANISMS; MUTATIONS; ONTOLOGY; DISEASES; UPDATE; TOOL;
D O I：
10.1093/bioinformatics/btx225
中图分类号：
Q5 [生物化学];
学科分类号：
071010 ; 081704 ;
摘要：
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 'Ca(2+)genes'. A network with scale-free properties appeared when the Ca2+ genes were mapped to their associated genetic disorders.
引用
收藏
页码：2547 / 2554
页数：8
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