IRAG2: Inositol 1,4,5-Trisphosphate Receptor Associated 2
A gene encoding a protein involved in calcium signaling and platelet function.
Gene Information Card
| Symbol | IRAG2 |
|---|---|
| Full Name | Inositol 1,4,5-Trisphosphate Receptor Associated 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p12.1 |
| NCBI Gene ID | 57180 ncbi.nlm.nih.gov/gene/57180 |
| Ensembl ID | ENSG00000139567 |
| UniProt ID | Q9H0I2 |
| OMIM ID | 616399 |
| HGNC ID | 28595 |
| Aliases | LRMP, JAW1, IRAG2 |
Description
IRAG2 (Inositol 1,4,5-Trisphosphate Receptor Associated 2) encodes a protein that interacts with the inositol 1,4,5-trisphosphate receptor (IP3R) and modulates calcium release from intracellular stores. It is involved in platelet aggregation and vascular smooth muscle contraction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bleeding disorder, platelet-type 21 | Impaired calcium signaling in platelets due to IRAG2 dysfunction | ClinVar |
| Thrombocytopenia | Altered platelet production and function | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lung | 8.3 | Low |
| Whole blood | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in transfected cells |
| K562 | 4.5 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Loss of function |
| c.235C>T | Nonsense | Very rare | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants impair IP3R binding and calcium release.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • calcium-mediated signaling (GO:0019722) |
| • plasma membrane (GO:0005886) |
Pathways
• IP3 receptor signaling
• Platelet activation
Protein Summary
The IRAG2 protein is a transmembrane protein that localizes to the endoplasmic reticulum and plasma membrane. It binds to IP3 receptors and modulates calcium flux, playing a critical role in platelet aggregation and vascular tone.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IRAG2 Knockout HEK293 Cell Line | EDJ-KQ5141 | Human | 4033 | Details Get a Quote |
| IRAG2 Knockout HeLa Cell Line | EDJ-KQ53804 | Human | 4033 | Details Get a Quote |
| IRAG2 Knockout A-549 Cell Line | EDJ-KQ62285 | Human | 4033 | Details Get a Quote |
| IRAG2 Knockout HCT 116 Cell Line | EDJ-KQ70766 | Human | 4033 | Details Get a Quote |
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