AXL Receptor Tyrosine Kinase
AXL gene: structure, function, expression, mutations, and disease associations
Gene Information Card
| Symbol | AXL |
|---|---|
| Full Name | AXL receptor tyrosine kinase |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 558 ncbi.nlm.nih.gov/gene/558 |
| Ensembl ID | ENSG00000167601 |
| UniProt ID | P30530 |
| OMIM ID | 600310 |
| HGNC ID | 913 |
| Aliases | UFO, JTK11, Tyro7 |
Description
AXL is a member of the TAM (Tyro3, Axl, Mer) family of receptor tyrosine kinases. It is activated by its ligand GAS6, leading to downstream signaling pathways that regulate cell survival, proliferation, migration, and immune modulation. AXL is frequently overexpressed in various cancers and is associated with poor prognosis, metastasis, and drug resistance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-small cell lung cancer | AXL overexpression promotes epithelial-mesenchymal transition and resistance to EGFR inhibitors | PMID: 20010840 |
| Breast cancer | AXL signaling enhances invasion and metastasis via PI3K/AKT pathway | PMID: 20826714 |
| Acute myeloid leukemia | AXL is expressed on leukemic stem cells and supports survival | PMID: 23327922 |
| Systemic lupus erythematosus | AXL deficiency impairs clearance of apoptotic cells, contributing to autoimmunity | PMID: 15356147 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 5.8 | Medium |
| Breast | 3.2 | Low |
| Bone marrow | 2.1 | Low |
| Brain | 1.5 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 12.3 | High expression |
| MCF7 (breast cancer) | 2.8 | Low expression |
| K562 (leukemia) | 8.5 | Moderate expression |
| HEK293 (embryonic kidney) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1681C>T (p.Arg561Cys) | Missense | <0.1% | Kinase domain; potential gain-of-function |
| c.2119G>A (p.Glu707Lys) | Missense | <0.1% | Kinase domain; unknown significance |
| c.1234_1235insA | Frameshift | <0.1% | Truncation; loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the kinase domain are predicted to cause loss of function.
Gain of Function (GOF)
Missense mutations in the kinase domain (e.g., p.Arg561Cys) may enhance kinase activity, though functional validation is limited.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004714 - transmembrane receptor protein tyrosine kinase activity | • GO:0007169 - transmembrane receptor protein tyrosine kinase signaling pathway |
| • GO:0043066 - negative regulation of apoptotic process | • GO:0030154 - cell differentiation |
| • GO:0005886 - plasma membrane |
Pathways
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• Rap1 signaling pathway (KEGG: hsa04015)
• GAS6-AXL signaling pathway (Reactome: R-HSA-8939211)
Protein Summary
AXL is a 894-amino-acid transmembrane receptor tyrosine kinase composed of two immunoglobulin-like domains and two fibronectin type III repeats in the extracellular region, and a cytoplasmic tyrosine kinase domain. Upon binding of GAS6, AXL dimerizes and autophosphorylates, activating downstream pathways such as PI3K/AKT, MAPK/ERK, and NF-κB. AXL is implicated in cell survival, proliferation, migration, and immune evasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AXL Knockout HEK293 Cell Line | EDJ-KQ17693 | Human | 558 | Details Get a Quote |
| AXL Knockout A-549 Cell Line | EDC08109 | Human | 558 | Details Get a Quote |
| AXL Knockout HCT 116 Cell Line | EDJ-KQ19779 | Human | 558 | Details Get a Quote |
| AXL Knockout HeLa Cell Line | EDJ-KQ19780 | Human | 558 | Details Get a Quote |
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