Gene
ORAI1
ORAI calcium release-activated calcium modulator 1
- HGNC 25896↗(opens in a new tab)
- Ensembl gene ENSG00000276045↗(opens in a new tab)
- NCBI Gene 84876↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q24.31
- Also known as
- FLJ14466, CRACM1
- Previous symbols
- TMEM142A
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Other Inborn Errors of Immunity
- Immunodeficiency Disease
One of 170 genes linked to it
Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD
How a genome test reads ORAI1
18
positions in ORAI1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
Genes linked to the same conditions
- ADAadenosine deaminaseShares 1 condition
- AICDAactivation induced cytidine deaminaseShares 1 condition
- AK2adenylate kinase 2Shares 1 condition
- ARPC1Bactin related protein 2/3 complex subunit 1BShares 1 condition
- ARPC5actin related protein 2/3 complex subunit 5Shares 1 condition
- ATMATM serine/threonine kinaseShares 1 condition
- ATP6AP1ATPase H+ transporting accessory protein 1Shares 1 condition
- B2Mbeta-2-microglobulinShares 1 condition
- BACH2BACH transcriptional regulator 2Shares 1 condition
- BCL10BCL10 immune signaling adaptorShares 1 condition
- BCL11BBCL11 transcription factor BShares 1 condition
- BLNKB cell linkerShares 1 condition
Traits linked to ORAI1
The Human Phenotype Ontology lists these as features of the rare conditions ORAI1 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ORAI1 gene: ORAI calcium release-activated calcium modulator 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/orai1
Dante Labs. ORAI1 gene: ORAI calcium release-activated calcium modulator 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/orai1
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