This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs) . It is one of several genes located in the imprinted gene domain of 11p15.5 , an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome , Wilms tumor , rhabdomyosarcoma , adrenocrotical carcinoma , and lung , ovarian , and breast cancer. This gene may play a role in malignancies and disease that involve this region , as well as early hematopoiesis , by mediating attachment to stromal cells. Mutations in this gene are associated with fatal classic Kaposi sarcoma , immunodeficiency due to defects in store-operated calcium entry (SOCE) in fibroblasts , ectodermal dysplasia and tubular aggregate myopathy. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1) , with the 3' end of this gene situated 1.6 kb from the 5' end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq , May 2013]
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