| 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 8.0.0) 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. 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 Stormorken syndrome and 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. Heterozygosity for the p.R304W mutation reduces embryonic survival and adult longevity, affects muscle morphology and physiology, bone morphology, liver physiology, hematopoiesis, and immune cell development. It leads to reduced body size and weight, muscle weakness, bone weakness, bleeding disorder, skin abnormalities, and altered liver and blood chemistry. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
