CRACR2B (CRAC Channel Regulator 2B) - Structure, Function, and Clinical Significance
A comprehensive biomedical overview of the CRACR2B gene, including its genomic context, protein function, expression patterns, and associated diseases.
Gene Information Card
| Symbol | CRACR2B |
|---|---|
| Full Name | Calcium release-activated calcium channel regulator 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 84309 ncbi.nlm.nih.gov/gene/84309 |
| Ensembl ID | ENSG00000137710 |
| UniProt ID | Q9BSW2 |
| OMIM ID | 614178 |
| HGNC ID | 25164 |
| Aliases | DKFZp686L2420, FLJ14727 |
Description
CRACR2B (Calcium release-activated calcium channel regulator 2B) is a protein-coding gene located on the short arm of chromosome 11 (11p15.4). It encodes a protein that functions as a regulator of calcium release-activated calcium (CRAC) channels, which are crucial for store-operated calcium entry (SOCE) in non-excitable cells. The CRACR2B protein is part of a family of CRAC channel regulators and is involved in modulating calcium signaling pathways that affect various cellular processes, including immune cell activation and gene expression. The gene is expressed in multiple tissues, with notable levels in the testis and certain immune cells. While its precise role in disease is still under investigation, alterations in CRACR2B expression or function may contribute to immune-related disorders and potentially other pathologies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency | Potential dysregulation of CRAC channel-mediated calcium signaling in immune cells, affecting T-cell activation and function. | Inferred from functional studies of CRAC channels and related family members; direct clinical evidence is limited. |
| Cancer | Altered expression may influence calcium-dependent pathways involved in cell proliferation, apoptosis, or metastasis. | Expression data from databases like COSMIC suggest differential expression in some tumor types; functional significance requires further investigation. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 9.8 | Medium |
| Lymph node | 5.2 | Low |
| Spleen | 4.1 | Low |
| Bone marrow | 3.5 | Low |
| Thyroid | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 6.5 | Moderate expression |
| HeLa (cervical cancer) | 3.8 | Low expression |
| A549 (lung cancer) | 2.1 | Low expression |
| GM12878 (lymphoblastoid) | 5.9 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Trp) | Missense | Not established | Potential alteration in protein structure and function; clinical significance unknown. |
| c.457G>A (p.Val153Ile) | Missense | Not established | Rare variant; effect on protein function not determined. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations have been characterized for CRACR2B. However, based on its role as a positive regulator of CRAC channels, any mutation that severely disrupts its protein structure or interaction with CRAC components could theoretically lead to reduced calcium influx.
Gain of Function (GOF)
No gain-of-function mutations have been reported. A hypothetical mutation that enhances CRACR2B's ability to activate CRAC channels could lead to excessive calcium signaling, potentially causing cellular dysfunction.
Dominant Negative (DN)
No dominant-negative mutations have been identified. A mutation that produces a truncated or misfolded protein capable of interfering with the function of the wild-type protein could have a dominant-negative effect, but this remains speculative.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • protein binding |
| • regulation of store-operated calcium entry | • positive regulation of calcium ion transport |
| • cytoplasm | • plasma membrane |
Pathways
• Calcium signaling pathway
• Store-operated calcium entry (SOCE) pathway
Protein Summary
The CRACR2B protein is a cytoplasmic and membrane-associated protein that acts as a positive regulator of CRAC channels. It contains EF-hand domains, which are classic calcium-binding motifs, and is believed to interact with STIM1 and ORAI1, the core components of the CRAC channel complex. By binding to these proteins, CRACR2B facilitates the activation of CRAC channels in response to depletion of intracellular calcium stores, thereby promoting sustained calcium influx. This calcium entry is essential for various cellular functions, including gene transcription, cytokine production, and cell proliferation. The protein's expression in immune tissues suggests a significant role in the immune response.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRACR2B Knockout HEK293 Cell Line | EDJ-KQ12999 | Human | 283229 | Details Get a Quote |
| CRACR2B Knockout HeLa Cell Line | EDJ-KQ41007 | Human | 283229 | Details Get a Quote |
| CRACR2B Knockout A-549 Cell Line | EDJ-KQ42250 | Human | 283229 | Details Get a Quote |
| CRACR2B Knockout HCT 116 Cell Line | EDJ-KQ42251 | Human | 283229 | Details Get a Quote |
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