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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ORAI1
ORAI calcium release-activated calcium modulator 1
Chromosome 12 Β· 12q24.31
NCBI Gene: 84876Ensembl: ENSG00000276045.5HGNC: HGNC:25896UniProt: Q96D31
406PubMed Papers
22Diseases
0Drugs
22Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
calcium-ion regulated exocytosiscalcium-mediated signalingcalcium channel activityprotein bindingcombined immunodeficiency due to ORAI1 deficiencymyopathy, tubular aggregate, 2tubular aggregate myopathycombined immunodeficiency
✦AI Summary

ORAI1 functions as the pore-forming subunit of calcium release-activated calcium (CRAC) channels, which mediate store-operated calcium entry (SOCE) in non-excitable cells 1. When endoplasmic reticulum calcium stores are depleted, STIM1 senses the reduced calcium levels and activates ORAI1 channels in the plasma membrane, allowing sustained calcium influx essential for cellular functions and store refilling 2. The mechanism involves STIM1 binding to ORAI1, forming a highly calcium-selective ion channel complex that triggers calcium-dependent processes including gene transcription, T-cell activation, and mast cell degranulation 2. Disease relevance includes CRAC channelopathies caused by ORAI1 mutations, which result in abolished CRAC channel currents, lack of SOCE, and clinically manifest as immunodeficiency, congenital myopathy, and anhydrotic ectodermal dysplasia 13. ORAI1 is also implicated in breast cancer progression through regulation of gene expression, including PTGS2 and IL6, dependent on its pore function and STIM1 binding 4. Additionally, aging-related microvascular dysfunction involves increased ORAI1 expression, contributing to vascular hypercontractility 5.

Sources cited
1
ORAI1 acts as pore-forming subunit of CRAC channels and mutations cause CRAC channelopathies with immunodeficiency
PMID: 20111871
2
STIM1 activates ORAI1 channels upon ER calcium store depletion to trigger calcium-dependent cellular processes
PMID: 30530091
3
ORAI1 regulates gene expression in breast cancer cells dependent on pore function and STIM1 binding
PMID: 35682546
4
ORAI1 upregulation is associated with aging-related microvascular dysfunction and hypercontractility
PMID: 36429103
5
ORAI1 deficiency in humans and mice affects immune system function through impaired store-operated calcium entry
PMID: 19754898
Disease Associationsβ“˜22
combined immunodeficiency due to ORAI1 deficiencyOpen Targets
0.75Strong
myopathy, tubular aggregate, 2Open Targets
0.75Strong
tubular aggregate myopathyOpen Targets
0.50Moderate
combined immunodeficiencyOpen Targets
0.46Moderate
T-B- severe combined immunodeficiencyOpen Targets
0.46Moderate
T-B+ severe combined immunodeficiencyOpen Targets
0.46Moderate
T+ B+ severe combined immunodeficiencyOpen Targets
0.46Moderate
Stormorken-Sjaastad-Langslet syndromeOpen Targets
0.42Moderate
myopathy, tubular aggregate, 1Open Targets
0.37Weak
Stormorken syndromeOpen Targets
0.19Weak
genetic disorderOpen Targets
0.12Weak
breast cancerOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.09Suggestive
allergic rhinitisOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
Miyoshi myopathyOpen Targets
0.08Suggestive
azoospermiaOpen Targets
0.08Suggestive
pulmonary arterial hypertensionOpen Targets
0.08Suggestive
acute pancreatitisOpen Targets
0.08Suggestive
Immunodeficiency 9UniProt
Myopathy, tubular aggregate, 2UniProt
Pathogenic Variants22
NM_032790.4(ORAI1):c.581T>C (p.Leu194Pro)Likely pathogenic
Combined immunodeficiency due to ORAI1 deficiency|Myopathy, tubular aggregate, 2;Combined immunodeficiency due to ORAI1 deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 194
NM_032790.4(ORAI1):c.802C>T (p.Arg268Ter)Likely pathogenic
Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 268
NR_186857.1(ORAI1):n.906_909dupLikely pathogenic
Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2
β˜…β˜†β˜†β˜†2025
NC_000012.12:g.121626961C>TPathogenic
Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2
β˜…β˜†β˜†β˜†2025
NM_032790.4(ORAI1):c.505dup (p.His169fs)Likely pathogenic
Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2
β˜…β˜†β˜†β˜†2025β†’ Residue 169
NM_032790.1(ORAI1):c.493dupPathogenic
Combined immunodeficiency due to ORAI1 deficiency
β˜…β˜†β˜†β˜†2024
NM_032790.4(ORAI1):c.292G>A (p.Gly98Ser)Pathogenic
Myopathy, tubular aggregate, 2|Myopathy with tubular aggregates
β˜…β˜†β˜†β˜†2024β†’ Residue 98
NC_000012.12:g.121641254G>TPathogenic
Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2
β˜…β˜†β˜†β˜†2024
NM_032790.3(ORAI1):c.131_132insGCCGCLikely pathogenic
Combined immunodeficiency due to ORAI1 deficiency
β˜…β˜†β˜†β˜†2023
NM_032790.4(ORAI1):c.208_209del (p.Ser70fs)Pathogenic
Myopathy, tubular aggregate, 2;Combined immunodeficiency due to ORAI1 deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 70
NC_000012.12:g.121641350C>TLikely pathogenic
Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2
β˜…β˜†β˜†β˜†2022
NM_032790.4(ORAI1):c.777dup (p.Ser260Leufs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 260
NM_032790.4(ORAI1):c.290C>G (p.Ser97Cys)Pathogenic
Myopathy, tubular aggregate, 2
β˜…β˜†β˜†β˜†2022β†’ Residue 97
NM_032790.4(ORAI1):c.750dup (p.Ile251Tyrfs)Likely pathogenic
Myopathy, tubular aggregate, 2;Combined immunodeficiency due to ORAI1 deficiency
β˜…β˜†β˜†β˜†2021β†’ Residue 251
NC_000012.12:g.121641056G>APathogenic
Myopathy, tubular aggregate, 2;Combined immunodeficiency due to ORAI1 deficiency
β˜…β˜†β˜†β˜†2020
NC_000012.12:g.121641283delLikely pathogenic
Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2
β˜…β˜†β˜†β˜†2018
NM_032790.4(ORAI1):c.141_142insCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC (p.Ser48Profs)Pathogenic
Combined immunodeficiency due to ORAI1 deficiency
β˜…β˜†β˜†β˜†2017β†’ Residue 48
NM_032790.4(ORAI1):c.129_133del (p.Pro44fs)Likely pathogenic
Combined immunodeficiency due to ORAI1 deficiency
β˜…β˜†β˜†β˜†β†’ Residue 44
NM_032790.4(ORAI1):c.734C>T (p.Pro245Leu)Pathogenic
Myopathy, tubular aggregate, 2
β˜†β˜†β˜†β˜†2014β†’ Residue 245
NM_032790.4(ORAI1):c.308C>A (p.Ala103Glu)Pathogenic
Combined immunodeficiency due to ORAI1 deficiency
β˜†β˜†β˜†β˜†2009β†’ Residue 103
View on ClinVar β†—
Related Genes
ITPR3Protein interaction99%ITPR1Protein interaction98%ITPR2Protein interaction98%KCNN3Protein interaction98%PRKACBProtein interaction97%PRKACAProtein interaction97%
Tissue Expression6 tissues
Lung
100%
Liver
52%
Bone Marrow
51%
Brain
42%
Heart
33%
Ovary
30%
Gene Interaction Network
Click a node to explore
ORAI1ITPR3ITPR1ITPR2KCNN3PRKACBPRKACA
PROTEIN STRUCTURE
Preparing viewer…
PDB4EHQ Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
RankingsWhere ORAI1 stands among ~20K protein-coding genes
  • #715of 20,598
    Most Researched406 Β· top 5%
  • #2,084of 5,498
    Most Pathogenic Variants22
Genes detectedORAI1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
CRAC channelopathies.
PMID: 20111871
Pflugers Arch Β· 2010
1.00
2
STIM1 activation of Orai1.
PMID: 30530091
Cell Calcium Β· 2019
0.90
3
Orai3--the 'exceptional' Orai?
PMID: 22041188
J Physiol Β· 2012
0.80
4
Functional Role of STIM-1 and Orai1 in Human Microvascular Aging.
PMID: 36429103
Cells Β· 2022
0.70
5
Tspan18 is a novel regulator of thrombo-inflammation.
PMID: 32447449
Med Microbiol Immunol Β· 2020
0.64