ORAI1 ORAI calcium release-activated calcium modulator 1

Gene ID: 84876, updated on 13-Apr-2024
Gene type: protein coding
Also known as: IMD9; TAM2; ORAT1; CRACM1; TMEM142A

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Combined immunodeficiency due to ORAI1 deficiency MedGen: C2748568OMIM: 612782GeneReviews: Not available	See labs
Myopathy, tubular aggregate, 2 MedGen: C4014557OMIM: 615883GeneReviews: Not available	See labs

Genomic context

Location:: 12q24.31

Sequence:: Chromosome: 12; NC_000012.12 (121626530..121643109)

Total number of exons:: 2

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ORAI1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
ORAI1 database
ORAI1base: Mutation registry for Severe combined immunodeficiency
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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