ORAI3

Chr 16

ORAI calcium release-activated calcium modulator 3

Also known as: TMEM142C

NCBI Gene: 93129ENSG00000175938UniProt: Q9BRQ5

Enables store-operated calcium channel activity. Involved in store-operated calcium entry. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
27
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.23
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.23LOEUF
pLI 0.034
Z-score 1.20
OE 0.48 (0.22–1.23)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.07Z-score
OE missense 0.98 (0.86–1.12)
160 obs / 162.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.48 (0.22–1.23)
0≤0.351.4
Missense OE?0.98 (0.86–1.12)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 3 / 6.3Missense obs/exp: 160 / 162.7Syn Z: -0.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ORAI3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients