TFG (TRK-Fused Gene)
A gene encoding a protein involved in vesicle transport, protein secretion, and neuroprotection, with mutations linked to hereditary motor and sensory neuropathy and cancer.
Gene Information Card
| Symbol | TFG |
|---|---|
| Full Name | TRK-Fused Gene |
| Gene Type | Protein coding |
| Chromosomal Location | 3q12.2 |
| NCBI Gene ID | 10342 ncbi.nlm.nih.gov/gene/10342 |
| Ensembl ID | ENSG00000114391 |
| UniProt ID | Q92734 |
| OMIM ID | 602498 |
| HGNC ID | 11758 |
| Aliases | TFG-1, TRK-fused gene, SPG57, HMSN-P |
Description
The TFG gene encodes a protein that functions in vesicle transport between the endoplasmic reticulum and Golgi apparatus, and is involved in protein secretion and neuroprotection. Mutations in TFG cause hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) and hereditary sensory and autonomic neuropathy type 7 (HSAN7). TFG is also implicated in oncogenic fusions, such as TFG-ALK, in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Motor and Sensory Neuropathy with Proximal Predominance (HMSN-P) | Missense mutations in TFG impair protein function, leading to neurodegeneration | OMIM #604484 |
| Hereditary Sensory and Autonomic Neuropathy Type 7 (HSAN7) | Loss-of-function mutations disrupt axonal transport and cause sensory neuron degeneration | OMIM #615632 |
| Spastic Paraplegia 57 (SPG57) | Mutations in TFG cause autosomal recessive spastic paraplegia | OMIM #615658 |
| Anaplastic Large Cell Lymphoma (ALCL) | TFG-ALK fusion gene results in constitutive ALK kinase activation, driving oncogenesis | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal cord | 10.2 | Medium |
| Testis | 8.9 | Medium |
| Heart | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| HeLa (cervical carcinoma) | 8.7 | Medium expression |
| HEK293 (embryonic kidney) | 7.2 | Medium expression |
| K562 (leukemia) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg285Trp | Missense | Unknown | Associated with HMSN-P |
| p.Pro285Leu | Missense | Unknown | Associated with HSAN7 |
| p.Gly287Val | Missense | Unknown | Associated with SPG57 |
| TFG-ALK fusion | Gene fusion | Rare | Oncogenic driver in ALCL |
Mutation functional classification
Loss of Function (LOF)
Mutations in TFG causing HSAN7 and SPG57 lead to loss of normal protein function, impairing vesicle transport and axonal maintenance.
Gain of Function (GOF)
TFG-ALK fusion results in constitutive kinase activity, promoting cell proliferation and survival.
Dominant Negative (DN)
Some missense mutations in TFG may exert dominant-negative effects, disrupting oligomerization and function.
View complete mutation data：
Gene Ontology (GO)
| • intracellular protein transport (GO:0006886) | • retrograde vesicle-mediated transport (GO:0006890) |
| • Golgi apparatus (GO:0005794) | • cytosol (GO:0005829) |
| • protein binding (GO:0005515) |
Pathways
• Vesicle-mediated transport
• ER to Golgi anterograde transport
• ALK signaling in cancer
Protein Summary
The TFG protein is a 400-amino acid protein that localizes to the endoplasmic reticulum and Golgi apparatus. It forms oligomers and interacts with components of the COPII vesicle coat, facilitating cargo export from the ER. In neurons, TFG is critical for axonal transport and survival. The protein contains a coiled-coil domain and a proline-rich region, and its C-terminal region mediates interactions with ALK in oncogenic fusions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TFG Knockout HEK293 Cell Line | EDJ-KQ950 | Human | 10342 | Details Get a Quote |
| TFG Knockout A-549 Cell Line | EDJ-KQ19938 | Human | 10342 | Details Get a Quote |
| TFG Knockout HCT 116 Cell Line | EDJ-KQ19939 | Human | 10342 | Details Get a Quote |
| TFG Knockout HeLa Cell Line | EDJ-KQ19940 | Human | 10342 | Details Get a Quote |
