Gene: STIM1

Alternate names for this Gene: D11S4896E|GOK|IMD10|STRMK|TAM|TAM1

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.4

Description of this Gene: stromal interaction molecule 1

Type of Gene: protein-coding

rs11827790 in STIM1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs3750996 in STIM1 gene and Calcium measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs11030841 in STIM1 gene and Fetal hemoglobin determination PMID 18245381 2008 Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.

rs397514671 in STIM1 gene and Immune dysfunction with T-cell inactivation due to calcium entry defect 2 PMID 22190180 2012 Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency.

PMID 19420366 2009 STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.

PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

PMID 24591628 2014 Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.

PMID 25044882 2014 Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

PMID 24619930 2014 A dominant STIM1 mutation causes Stormorken syndrome.

PMID 28624464 2017 Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

PMID 25577287 2015 York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

PMID 24570283 2014 Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.

rs397514675 in STIM1 gene and MYOPATHY, TUBULAR AGGREGATE, 1 PMID 23332920 2013 Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

PMID 25326555 2014 Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

PMID 25953320 2015 50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.

PMID 24570283 2014 Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.

rs2959056 in STIM1 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs11030122 in STIM1 gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11030122 in STIM1 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11827790 in STIM1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs483352867 in STIM1 gene and Stormorken Syndrome PMID 25044882 2014 Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

PMID 25577287 2015 York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

PMID 28624464 2017 Previous reports have suggested a genotype-phenotype correlation with mutations in the N-terminal EF-hand domain associated with tubular aggregate myopathy, and a common mutation at p.R304W in a coiled coil domain associated with Stormorken syndrome.

PMID 24619930 2014 A heterozygous missense mutation in STIM1 exon 7 (c.910C>T; p.Arg304Trp) (NM_003156.3) was found to segregate with the disease in six Stormorken syndrome patients in four families.

PMID 24591628 2014 Heterologous expression of STIM1 p.R304W results in constitutive activation of the CRAC channel in vitro, and spontaneous bleeding accompanied by reduced numbers of thrombocytes in zebrafish embryos, recapitulating key aspects of Stormorken syndrome. p.P245L in ORAI1 does not make a constitutively active CRAC channel, but suppresses the slow Ca(2+)-dependent inactivation of the CRAC channel, thus also functioning as a gain-of-function mutation.

PMID 24570283 2014 Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.

PMID 24591628 2014 Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.

PMID 24619930 2014 A dominant STIM1 mutation causes Stormorken syndrome.

rs483352867 in STIM1 gene and Tubular Aggregate Myopathy PMID 25577287 2015 York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

PMID 25044882 2014 Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

PMID 24619930 2014 A dominant STIM1 mutation causes Stormorken syndrome.

PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

PMID 24591628 2014 Here, we identify gain-of-function mutations in the cytoplasmic domain of STIM1 (p.R304W) associated with thrombocytopenia, bleeding diathesis, miosis, and tubular myopathy in patients with Stormorken syndrome, and in ORAI1 (p.P245L), associated with a Stormorken-like syndrome of congenital miosis and tubular aggregate myopathy but without hematological abnormalities.

PMID 24570283 2014 Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.