Primary Identifier | MGI:107476 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 20866 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables channel regulator activity and identical protein binding activity. Involved in G protein-coupled receptor signaling pathway; ligand-gated ion channel signaling pathway; and positive regulation of insulin secretion. Acts upstream of or within establishment of localization in cell; myotube differentiation; and store-operated calcium entry. Located in endoplasmic reticulum. Part of protein-containing complex. Is active in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; gonad; hemolymphoid system gland; and musculature. Used to study tubular aggregate myopathy 1. Human ortholog(s) of this gene implicated in Stormorken syndrome; gastrointestinal system cancer (multiple); immunodeficiency 10; lung cancer; and tubular aggregate myopathy 1. Orthologous to human STIM1 (stromal interaction molecule 1). PHENOTYPE: Mice homozygous for a null allele exhibit perinatal and postnatal lethality, with all mice dying by 2 weeks of age, and severe growth retardation. [provided by MGI curators] |