ORAI2
Calcium Release-Activated Calcium Channel Modulator
Gene Information Card
| Symbol | ORAI2 |
|---|---|
| Full Name | ORAI calcium release-activated calcium modulator 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 80228 ncbi.nlm.nih.gov/gene/80228 |
| Ensembl ID | ENSG00000160991 |
| UniProt ID | Q96SN7 |
| OMIM ID | 610379 |
| HGNC ID | 25873 |
| Aliases | C7orf19, FLJ12716, TMEM142B |
Description
ORAI2 encodes a membrane protein that functions as a subunit of the calcium release-activated calcium (CRAC) channel. It is involved in store-operated calcium entry (SOCE) and modulates calcium influx in non-excitable cells. ORAI2 is structurally similar to ORAI1 but exhibits distinct regulatory properties and tissue distribution.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency | Impaired SOCE due to ORAI2 dysfunction | ClinVar |
| Cancer (various) | Altered calcium signaling promoting proliferation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.2 | Low |
| Spleen | 6.7 | Low |
| Testis | 15.3 | Medium |
| Kidney | 9.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.4 | Moderate expression |
| Jurkat | 7.8 | Low expression |
| SH-SY5Y | 14.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.341G>A (p.Arg114His) | Missense | <0.01% | Unknown functional impact |
| c.502C>T (p.Arg168Trp) | Missense | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Reported in rare variants affecting calcium influx
Gain of Function (GOF)
Not documented
Dominant Negative (DN)
Not documented
View complete mutation data：
Gene Ontology (GO)
| • calcium ion transmembrane transport | • store-operated calcium channel activity |
| • integral component of membrane | • calcium ion binding |
Pathways
• Calcium signaling pathway
• Store-operated calcium entry
Protein Summary
ORAI2 is a 254-amino acid transmembrane protein with four predicted membrane-spanning domains. It assembles with ORAI1 and STIM1 to form functional CRAC channels. ORAI2 modulates the kinetics and calcium-dependent inactivation of the channel, contributing to fine-tuning of calcium signals in various cell types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ORAI2 Knockout HEK293 Cell Line | EDJ-KQ1568 | Human | 80228 | Details Get a Quote |
| ORAI2 Knockout HCT 116 Cell Line | EDJ-KQ19892 | Human | 80228 | Details Get a Quote |
| ORAI2 Knockout A-549 Cell Line | EDJ-KQ21249 | Human | 80228 | Details Get a Quote |
| ORAI2 Knockout HeLa Cell Line | EDJ-KQ21251 | Human | 80228 | Details Get a Quote |
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