Information on ORAI1
Basic details
Alt. symbols: TMEM142A | FLJ14466 | CRACM1
Approved name: ORAI calcium release-activated calcium modulator 1
Alt. names: transmembrane protein 142A | calcium release-activated calcium modulator 1
Location: 12q24.31: 121626509 - 121643218 (+)
Gene type: protein_coding, 4 transcripts.
Scores: LoFtool: 0.486000 | pLI: 0.00305336 | LOEUF: 1.777
Normal function
ORAI1 encodes the calcium release-activated calcium channel protein 1 (CRAC1), 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). CRAC channels are the main pathway for Ca(2+) influx in T-cells and promote the immune response to pathogens by activating the transcription factor NFAT (PubMed:16582901).
Dysfunction and disease
Biallelic mutations in ORAI1 cause a rare form of immunodeficiency: Immunodeficiency 9 (IMD9) [MIM:612782]; which is characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, and normal lymphocytes counts and serum immunoglobulin levels. In surviving patients, non-progressive myopathy, ectodermal dysplasia with anhidrosis and enamel calcification defects may be observed. On the other hand, monoallelic mutations hav e been reported to cause autosomal dominant Tubular Aggregate Myopathy 2 (TAM2) [MIM:615883], a disorder that primarily affects the skeletal muscles, and causes muscle pain, pupillary abnormalities, cramping, or weakness that begins in childhood and worsens over time. [Load More]
[Reviewed by Andrés Caballero-Oteyza on ]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD9 |
Immunodeficiency 9 | AR |
612782 |
0 (0 fams) | |
| TAM2 |
tubular aggregate myopathy-2 | AD |
- | 0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of ORAI1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in ORAI1
| ID | Year | Title | Journal | PMID | Variants |
|---|