IL3RA Gene - Interleukin 3 Receptor Subunit Alpha
Comprehensive gene information for IL3RA, including expression, mutations, and associated diseases.
Gene Information Card
| Symbol | IL3RA |
|---|---|
| Full Name | interleukin 3 receptor subunit alpha |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.3 |
| NCBI Gene ID | 3563 ncbi.nlm.nih.gov/gene/3563 |
| Ensembl ID | ENSG00000122585 |
| UniProt ID | P26951 |
| OMIM ID | 308385 |
| HGNC ID | 6015 |
| Aliases | CD123, IL3R, IL3RX, IL3RY, hIL-3Ra |
Description
IL3RA (interleukin 3 receptor subunit alpha) encodes the alpha subunit of the interleukin 3 receptor. This receptor is a heterodimer composed of a ligand-specific alpha subunit (IL3RA) and a common beta subunit (CSF2RB). IL3RA is expressed on hematopoietic progenitor cells, dendritic cells, monocytes, and basophils. It plays a key role in hematopoiesis, immune regulation, and is implicated in various hematologic malignancies, particularly acute myeloid leukemia (AML) and blastic plasmacytoid dendritic cell neoplasm (BPDCN).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Overexpression of IL3RA (CD123) on leukemic blasts promotes survival and proliferation via IL3 signaling. | ClinVar, COSMIC |
| Blastic plasmacytoid dendritic cell neoplasm | High expression of IL3RA is a diagnostic marker; targeted therapies (e.g., tagraxofusp) exploit this. | ClinVar, NCBI Gene |
| Myelodysplastic syndromes | Aberrant IL3RA expression contributes to dysregulated hematopoiesis. | COSMIC, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lung | 3.1 | Low |
| Blood | 15.2 | High |
| Lymph node | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 | 18.4 | Promyelocytic leukemia cell line |
| K-562 | 22.1 | Chronic myeloid leukemia cell line |
| THP-1 | 25.6 | Monocytic leukemia cell line |
| MOLT-4 | 5.2 | T-cell lymphoblastic leukemia cell line |
| Raji | 3.8 | Burkitt lymphoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | p.Met1Val; potential loss of start codon |
| c.157C>T | Nonsense | 0.005% | p.Arg53*; premature truncation |
| c.500G>A | Missense | 0.02% | p.Arg167Gln; altered ligand binding |
| c.800_801insA | Frameshift | 0.003% | p.Tyr267*; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg53*, p.Tyr267*) lead to truncated protein lacking transmembrane or intracellular domains, impairing receptor signaling.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg167Gln) may enhance IL3 binding affinity or receptor dimerization, promoting aberrant signaling.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported for IL3RA.
View complete mutation data：
Gene Ontology (GO)
Pathways
• IL3 signaling pathway (Reactome: R-HSA-512988)
• Hematopoietic cell lineage (KEGG: hsa04640)
• JAK-STAT signaling pathway (KEGG: hsa04630)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
Protein Summary
IL3RA is a 378-amino acid transmembrane glycoprotein (UniProt P26951) with an N-terminal extracellular domain containing a cytokine-binding region, a single transmembrane helix, and a short cytoplasmic tail. It forms a high-affinity receptor for interleukin-3 (IL3) when associated with the common beta subunit (CSF2RB). The protein is heavily N-glycosylated and is expressed on hematopoietic progenitors and myeloid cells. Its overexpression is a hallmark of certain leukemias, making it a therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL3RA Knockout HEK293 Cell Line | EDJ-KQ17686 | Human | 3563 | Details Get a Quote |
| IL3RA Knockout HeLa Cell Line | EDJ-KQ53635 | Human | 3563 | Details Get a Quote |
| IL3RA Knockout A-549 Cell Line | EDJ-KQ62110 | Human | 3563 | Details Get a Quote |
| IL3RA Knockout HCT 116 Cell Line | EDJ-KQ70597 | Human | 3563 | Details Get a Quote |
