ALK (Anaplastic Lymphoma Kinase) Gene
A key oncogenic driver in neuroblastoma, non-small cell lung cancer, and anaplastic large cell lymphoma
Gene Information Card
| Symbol | ALK |
|---|---|
| Full Name | ALK receptor tyrosine kinase |
| Gene Type | protein coding |
| Chromosomal Location | 2p23.2-p23.1 |
| NCBI Gene ID | 238 ncbi.nlm.nih.gov/gene/238 |
| Ensembl ID | ENSG00000171094 |
| UniProt ID | Q9UM73 |
| OMIM ID | 105590 |
| HGNC ID | 427 |
| Aliases | CD246, NBLST3, anaplastic lymphoma kinase |
Description
The ALK gene encodes a receptor tyrosine kinase belonging to the insulin receptor superfamily. It is involved in neuronal development and differentiation. Aberrant ALK activation through gene fusions, point mutations, or amplification drives oncogenesis in several cancers, including anaplastic large cell lymphoma (ALCL), non-small cell lung cancer (NSCLC), and neuroblastoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Anaplastic large cell lymphoma (ALCL) | ALK gene fusions (e.g., NPM1-ALK) lead to constitutive kinase activation and oncogenic signaling | PMID: 7530505 |
| Non-small cell lung cancer (NSCLC) | ALK rearrangements (e.g., EML4-ALK) result in constitutive activation and tumorigenesis | PMID: 17625570 |
| Neuroblastoma | ALK activating point mutations (e.g., F1174L, R1275Q) drive oncogenic signaling | PMID: 19029981 |
| Inflammatory myofibroblastic tumor | ALK rearrangements (e.g., TPM3-ALK, TPM4-ALK) cause kinase activation | PMID: 10521396 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.5 | Low |
| Testis | 0.3 | Low |
| Small intestine | 0.2 | Low |
| Colon | 0.1 | Not detected |
| Lung | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Karpas 299 (ALCL) | High | ALK rearrangement positive |
| H3122 (NSCLC) | High | EML4-ALK fusion positive |
| SH-SY5Y (neuroblastoma) | Moderate | ALK wild-type |
| HEK293 | Low | Endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| F1174L | Missense | ~15% in neuroblastoma | Gain-of-function, constitutive activation |
| R1275Q | Missense | ~10% in neuroblastoma | Gain-of-function, increased kinase activity |
| L1196M | Missense | <1% in NSCLC | Resistance to crizotinib |
| G1202R | Missense | <1% in NSCLC | Resistance to alectinib, ceritinib |
| NPM1-ALK fusion | Gene fusion | ~80% in ALCL | Constitutive activation, oncogenic |
Mutation functional classification
Loss of Function (LOF)
Not commonly reported; ALK loss-of-function is not associated with disease.
Gain of Function (GOF)
Common; point mutations (e.g., F1174L, R1275Q) and gene fusions (e.g., NPM1-ALK, EML4-ALK) lead to constitutive kinase activation and oncogenic signaling.
Dominant Negative (DN)
Not described for ALK.
View complete mutation data：
Gene Ontology (GO)
| • transmembrane receptor protein tyrosine kinase activity (GO:0004714) | • transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) |
| • integral component of membrane (GO:0016021) | • protein autophosphorylation (GO:0046777) |
| • nervous system development (GO:0007399) |
Pathways
• PI3K/AKT signaling pathway
• MAPK/ERK signaling pathway
• JAK/STAT signaling pathway
• PLCγ signaling pathway
Protein Summary
ALK is a 1620-amino acid single-pass transmembrane receptor tyrosine kinase. It consists of an extracellular ligand-binding domain, a transmembrane domain, and an intracellular tyrosine kinase domain. Upon ligand binding (e.g., ALKAL1, ALKAL2), it dimerizes and autophosphorylates, activating downstream signaling cascades including PI3K/AKT, MAPK/ERK, and JAK/STAT. In cancer, ALK fusions or mutations cause ligand-independent activation, promoting cell proliferation and survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALKBH5 Knockout HEK293 Cell Line | EDJ-KQ186 | Human | 54890 | Details Get a Quote |
| ALKBH3 Knockout HEK293 Cell Line | EDJ-KQ2287 | Human | 221120 | Details Get a Quote |
| ALKBH1 Knockout HEK293 Cell Line | EDJ-KQ6380 | Human | 8846 | Details Get a Quote |
| ALKBH2 Knockout HEK293 Cell Line | EDJ-KQ8103 | Human | 121642 | Details Get a Quote |
| ALKBH7 Knockout HEK293 Cell Line | EDJ-KQ9243 | Human | 84266 | Details Get a Quote |
| ALKBH6 Knockout HEK293 Cell Line | EDJ-KQ10286 | Human | 84964 | Details Get a Quote |
| ALKBH8 Knockout HEK293 Cell Line | EDJ-KQ10786 | Human | 91801 | Details Get a Quote |
| ALKBH4 Knockout HEK293 Cell Line | EDJ-KQ11586 | Human | 54784 | Details Get a Quote |
| ALKAL1 Knockout HEK293 Cell Line | EDJ-KQ12333 | Human | 389658 | Details Get a Quote |
| ALKAL2 Knockout HEK293 Cell Line | EDJ-KQ12334 | Human | 285016 | Details Get a Quote |
| ALK Knockout HEK293 Cell Line | EDJ-KQ17801 | Human | 238 | Details Get a Quote |
| ALKBH5 Knockout A-549 Cell Line | EDJ-KQ20180 | Human | 54890 | Details Get a Quote |
| ALKBH5 Knockout HCT 116 Cell Line | EDJ-KQ20181 | Human | 54890 | Details Get a Quote |
| ALKBH5 Knockout HeLa Cell Line | EDJ-KQ20182 | Human | 54890 | Details Get a Quote |
| ALKBH2 Knockout A-549 Cell Line | EDJ-KQ33969 | Human | 121642 | Details Get a Quote |
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