STIM1 Chromosome 11
Stromal interaction molecule 1
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What This Gene Does
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]
Gene Info
Gene Group
"Sterile alpha motif domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11p15.4
Ensembl
ENSG00000167323
Associated Conditions (16)
Stormorken syndrome
Combined immunodeficiency due to STIM1 deficiency
Myopathy
tubular aggregate
1
Myopathy with tubular aggregates
STIM1-related disorder
Sarcoma
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Malignant tumor of esophagus
Cervical cancer
Inborn genetic diseases
Cholangiocarcinoma
autophagic vacuolar
infantile-onset
Key Variants
RS118128831
Conflicting classifications of pathogenicity
Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency, Myopathy
Health Risk
RS1337761156
Conflicting classifications of pathogenicity
Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates, Stormorken syndrome
Health Risk
RS138848040
Conflicting classifications of pathogenicity
Myopathy with tubular aggregates, Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome
Health Risk
RS1390592487
Conflicting classifications of pathogenicity
Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome, Myopathy with tubular aggregates
Health Risk
RS139558513
Conflicting classifications of pathogenicity
STIM1-related disorder, Myopathy, tubular aggregate
Health Risk
RS140080199
Conflicting classifications of pathogenicity
Myopathy with tubular aggregates, Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency
Health Risk
RS141215990
Conflicting classifications of pathogenicity
Stormorken syndrome, Myopathy with tubular aggregates, Combined immunodeficiency due to STIM1 deficiency
Health Risk
RS142239530
Conflicting classifications of pathogenicity
Myopathy with tubular aggregates, Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome
Health Risk
RS143916878
Conflicting classifications of pathogenicity
Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates
Health Risk
RS200528985
Conflicting classifications of pathogenicity
Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome, Myopathy with tubular aggregates
Health Risk
RS200648767
Conflicting classifications of pathogenicity
Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates
Health Risk
RS201395930
Conflicting classifications of pathogenicity
Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS118128831 | Health Risk | Conflicting classifications of pathogenicity | Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency, Myopathy |
| RS1337761156 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates, Stormorken syndrome |
| RS138848040 | Health Risk | Conflicting classifications of pathogenicity | Myopathy with tubular aggregates, Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome |
| RS1390592487 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome, Myopathy with tubular aggregates |
| RS139558513 | Health Risk | Conflicting classifications of pathogenicity | STIM1-related disorder, Myopathy, tubular aggregate |
| RS140080199 | Health Risk | Conflicting classifications of pathogenicity | Myopathy with tubular aggregates, Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency |
| RS141215990 | Health Risk | Conflicting classifications of pathogenicity | Stormorken syndrome, Myopathy with tubular aggregates, Combined immunodeficiency due to STIM1 deficiency |
| RS142239530 | Health Risk | Conflicting classifications of pathogenicity | Myopathy with tubular aggregates, Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome |
| RS143916878 | Health Risk | Conflicting classifications of pathogenicity | Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates |
| RS200528985 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome, Myopathy with tubular aggregates |
| RS200648767 | Health Risk | Conflicting classifications of pathogenicity | Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates |
| RS201395930 | Health Risk | Conflicting classifications of pathogenicity | Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates |
| RS202160755 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome, Myopathy with tubular aggregates |
| RS2497906029 | Health Risk | Conflicting classifications of pathogenicity | Myopathy with tubular aggregates, Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome |
| RS562406813 | Health Risk | Conflicting classifications of pathogenicity | Myopathy with tubular aggregates, Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome |
| RS746517083 | Health Risk | Conflicting classifications of pathogenicity | Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates |
| RS750326949 | Health Risk | Conflicting classifications of pathogenicity | Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates |
| RS764247879 | Health Risk | Conflicting classifications of pathogenicity | Myopathy with tubular aggregates, Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome |
| RS2093352256 | Health Risk | Likely pathogenic | Myopathy, tubular aggregate, 1 |
| RS2133083597 | Health Risk | Likely pathogenic | Stormorken syndrome, Myopathy with tubular aggregates, Combined immunodeficiency due to STIM1 deficiency |
| RS2133226731 | Health Risk | Likely pathogenic | Myopathy, tubular aggregate, 1 |
| RS2497423187 | Health Risk | Likely pathogenic | Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates, Stormorken syndrome |
| RS2498275012 | Health Risk | Likely pathogenic | Stormorken syndrome, Stormorken syndrome |
| RS2498405398 | Health Risk | Likely pathogenic | Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates |
| RS2498502151 | Health Risk | Likely pathogenic | Stormorken syndrome, Myopathy with tubular aggregates, Combined immunodeficiency due to STIM1 deficiency |
| RS397514675 | Health Risk | Likely pathogenic | Myopathy, tubular aggregate, 1 |
| RS748277951 | Health Risk | Likely pathogenic | Myopathy, tubular aggregate, 1 |
| RS1057519506 | Health Risk | Pathogenic | Combined immunodeficiency due to STIM1 deficiency, Combined immunodeficiency due to STIM1 deficiency |
| RS1565171115 | Health Risk | Pathogenic | Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates, Stormorken syndrome |
| RS1590688717 | Health Risk | Pathogenic | Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome, Myopathy with tubular aggregates |
| RS2133224258 | Health Risk | Pathogenic | Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates |
| RS2498479250 | Health Risk | Pathogenic | Myopathy, tubular aggregate, 1 |
| RS2498479376 | Health Risk | Pathogenic | Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome, Myopathy with tubular aggregates |
| RS397514671 | Health Risk | Pathogenic | Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome, Myopathy with tubular aggregates |
| RS397514676 | Health Risk | Pathogenic | Myopathy, tubular aggregate, 1 |
| RS397515357 | Health Risk | Pathogenic | Combined immunodeficiency due to STIM1 deficiency, Combined immunodeficiency due to STIM1 deficiency |
| RS397515390 | Health Risk | Pathogenic | Combined immunodeficiency due to STIM1 deficiency, Combined immunodeficiency due to STIM1 deficiency |
| RS397515436 | Health Risk | Pathogenic | Myopathy, autophagic vacuolar, infantile-onset |
| RS483352867 | Health Risk | Pathogenic | Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates |
| RS527236030 | Health Risk | Pathogenic | Myopathy, tubular aggregate, 1 |
| RS751733169 | Health Risk | Pathogenic | Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates, Stormorken syndrome |
| RS2135736277 | Health Risk | Pathogenic/Likely pathogenic | Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates |
| RS2135736648 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates, Stormorken syndrome |
| RS397514677 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, tubular aggregate, 1 |