CRACR2A: Calcium Release-Activated Channel Regulator 2A
Key regulator of store-operated calcium entry and immune signaling
Gene Information Card
| Symbol | CRACR2A |
|---|---|
| Full Name | Calcium Release-Activated Channel Regulator 2A |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.33 |
| NCBI Gene ID | 84766 ncbi.nlm.nih.gov/gene/84766 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q9BSW2 |
| OMIM ID | 614178 |
| HGNC ID | 24005 |
| Aliases | FLJ14775, EFCAB4B |
Description
CRACR2A (Calcium Release-Activated Channel Regulator 2A) encodes a protein that acts as a regulator of store-operated calcium entry (SOCE). It interacts with the calcium release-activated calcium (CRAC) channel components ORAI1 and STIM1, facilitating calcium influx upon depletion of intracellular calcium stores. This gene is primarily expressed in immune cells and plays a critical role in T-cell activation and immune response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency | Loss-of-function mutations impair CRAC channel activity, reducing calcium influx and T-cell activation | PMID: 26969708 |
| Autoinflammatory disorders | Dysregulated SOCE due to CRACR2A variants may contribute to aberrant immune signaling | PMID: 31073079 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 11.8 | Medium |
| Bone marrow | 9.2 | Low |
| Thymus | 8.7 | Low |
| Whole blood | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat T cells | 15.2 | High expression in T-cell lines |
| Raji B cells | 10.1 | Moderate expression |
| HEK293 | 2.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.341G>A (p.Arg114Gln) | Missense | Rare | Impaired CRAC channel regulation |
| c.502C>T (p.Arg168Trp) | Missense | Rare | Reduced calcium influx |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg114Gln) reduce CRAC channel activity, leading to defective SOCE and immune dysfunction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • calcium ion binding (GO:0005509) |
| • T-tubule (GO:0030315) | • calcium ion transmembrane transport (GO:0070588) |
| • plasma membrane (GO:0005886) |
Pathways
• Store-operated calcium entry (SOCE) pathway
• Calcium signaling in immune cells
Protein Summary
CRACR2A is a 361-amino acid protein containing EF-hand calcium-binding domains. It localizes to the plasma membrane and endoplasmic reticulum junctions, where it stabilizes the interaction between STIM1 and ORAI1 to promote calcium influx. The protein is essential for sustained calcium signaling in lymphocytes, influencing gene expression, proliferation, and cytokine production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRACR2A Knockout HEK293 Cell Line | EDJ-KQ2619 | Human | 84766 | Details Get a Quote |
| CRACR2A Knockout A-549 Cell Line | EDJ-KQ21982 | Human | 84766 | Details Get a Quote |
| CRACR2A Knockout HCT 116 Cell Line | EDJ-KQ23350 | Human | 84766 | Details Get a Quote |
| CRACR2A Knockout HeLa Cell Line | EDJ-KQ57659 | Human | 84766 | Details Get a Quote |
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