ORAI1 Chromosome 12
ORAI calcium release-activated calcium modulator 1
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What This Gene Does
The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1). [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
ORAI calcium release-activated calcium modulators
Locus Type
gene with protein product
Location
12q24.31
Ensembl
ENSG00000276045
Associated Conditions (6)
Combined immunodeficiency due to ORAI1 deficiency
Myopathy
tubular aggregate
2
ORAI1-related disorder
Myopathy with tubular aggregates
Key Variants
RS1555322554
Conflicting classifications of pathogenicity
Combined immunodeficiency due to ORAI1 deficiency, Myopathy, tubular aggregate
Health Risk
RS1893050626
Conflicting classifications of pathogenicity
Combined immunodeficiency due to ORAI1 deficiency, Myopathy, tubular aggregate
Health Risk
RS2503543085
Conflicting classifications of pathogenicity
Myopathy, tubular aggregate, 2
Health Risk
RS549883296
Conflicting classifications of pathogenicity
Myopathy, tubular aggregate, 2
Health Risk
RS568054544
Conflicting classifications of pathogenicity
Combined immunodeficiency due to ORAI1 deficiency, Myopathy, tubular aggregate
Health Risk
RS781829024
Conflicting classifications of pathogenicity
Combined immunodeficiency due to ORAI1 deficiency, Myopathy, tubular aggregate
Health Risk
RS781971569
Conflicting classifications of pathogenicity
Myopathy, tubular aggregate, 2
Health Risk
RS782650611
Conflicting classifications of pathogenicity
Combined immunodeficiency due to ORAI1 deficiency, Myopathy, tubular aggregate
Health Risk
RS786204797
Conflicting classifications of pathogenicity
Myopathy, tubular aggregate, 2
Health Risk
RS868908978
Conflicting classifications of pathogenicity
Myopathy, tubular aggregate, 2
Health Risk
RS1265366427
Likely pathogenic
Myopathy, tubular aggregate, 2
Health Risk
RS1555324160
Likely pathogenic
Combined immunodeficiency due to ORAI1 deficiency, Myopathy, tubular aggregate
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555322554 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ORAI1 deficiency, Myopathy, tubular aggregate |
| RS1893050626 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ORAI1 deficiency, Myopathy, tubular aggregate |
| RS2503543085 | Health Risk | Conflicting classifications of pathogenicity | Myopathy, tubular aggregate, 2 |
| RS549883296 | Health Risk | Conflicting classifications of pathogenicity | Myopathy, tubular aggregate, 2 |
| RS568054544 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ORAI1 deficiency, Myopathy, tubular aggregate |
| RS781829024 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ORAI1 deficiency, Myopathy, tubular aggregate |
| RS781971569 | Health Risk | Conflicting classifications of pathogenicity | Myopathy, tubular aggregate, 2 |
| RS782650611 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ORAI1 deficiency, Myopathy, tubular aggregate |
| RS786204797 | Health Risk | Conflicting classifications of pathogenicity | Myopathy, tubular aggregate, 2 |
| RS868908978 | Health Risk | Conflicting classifications of pathogenicity | Myopathy, tubular aggregate, 2 |
| RS1265366427 | Health Risk | Likely pathogenic | Myopathy, tubular aggregate, 2 |
| RS1555324160 | Health Risk | Likely pathogenic | Combined immunodeficiency due to ORAI1 deficiency, Myopathy, tubular aggregate |
| RS1594212582 | Health Risk | Likely pathogenic | Combined immunodeficiency due to ORAI1 deficiency, Myopathy, tubular aggregate |
| RS2136853046 | Health Risk | Likely pathogenic | Combined immunodeficiency due to ORAI1 deficiency, Myopathy, tubular aggregate |
| RS2503543510 | Health Risk | Likely pathogenic | Combined immunodeficiency due to ORAI1 deficiency, Myopathy, tubular aggregate |
| RS2503544532 | Health Risk | Likely pathogenic | — |
| RS782163275 | Health Risk | Likely pathogenic | Combined immunodeficiency due to ORAI1 deficiency, Combined immunodeficiency due to ORAI1 deficiency |
| RS782753385 | Health Risk | Likely pathogenic | Combined immunodeficiency due to ORAI1 deficiency, Myopathy, tubular aggregate |
| RS118203993 | Health Risk | Pathogenic | Combined immunodeficiency due to ORAI1 deficiency, Combined immunodeficiency due to ORAI1 deficiency |
| RS1555322558 | Health Risk | Pathogenic | Combined immunodeficiency due to ORAI1 deficiency, Combined immunodeficiency due to ORAI1 deficiency |
| RS1555322610 | Health Risk | Pathogenic | Myopathy, tubular aggregate, 2 |
| RS1892793686 | Health Risk | Pathogenic | Myopathy, tubular aggregate, 2 |
| RS2136852410 | Health Risk | Pathogenic | Myopathy, tubular aggregate, 2 |
| RS587777528 | Health Risk | Pathogenic | Myopathy, tubular aggregate, 2 |
| RS786204796 | Health Risk | Pathogenic | Myopathy, tubular aggregate, 2 |
| RS786205890 | Health Risk | Pathogenic | Combined immunodeficiency due to ORAI1 deficiency, Combined immunodeficiency due to ORAI1 deficiency |
| RS878853261 | Health Risk | Pathogenic | Combined immunodeficiency due to ORAI1 deficiency, Combined immunodeficiency due to ORAI1 deficiency |