CRACR2A

Chr 12

calcium release activated channel regulator 2A

Also known as: EFCAB4B, RAB46

Enables G protein activity and calcium ion binding activity. Involved in several processes, including positive regulation of JNK cascade; positive regulation of monoatomic ion transport; and store-operated calcium entry. Located in several cellular components, including Golgi apparatus; Weibel-Palade body; and immunological synapse. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
combined immunodeficiency · ARLimitednot for standalone diagnostic reporting
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
0.87
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.87LOEUF
pLI 0.000
Z-score 2.22
OE 0.62 (0.450.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.93Z-score
OE missense 0.87 (0.800.95)
357 obs / 409.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.62 (0.450.87)
00.351.4
Missense OE?0.87 (0.800.95)
00.61.4
Synonymous OE?0.91
01.21.6
LoF obs/exp: 24 / 39.0Missense obs/exp: 357 / 409.9Syn Z: 0.87

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CRACR2A · 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

No active trials found for this gene.

Search ClinicalTrials.gov →