TRAK2: Trafficking Kinesin Protein 2
A key adaptor in mitochondrial transport and neuronal function
Gene Information Card
| Symbol | TRAK2 |
|---|---|
| Full Name | Trafficking Kinesin Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 66008 ncbi.nlm.nih.gov/gene/66008 |
| Ensembl ID | ENSG00000115904 |
| UniProt ID | O60296 |
| OMIM ID | 607334 |
| HGNC ID | 29987 |
| Aliases | GRIF-1, KIAA0549, OIP98 |
Description
TRAK2 encodes a member of the TRAK family of proteins that function as adaptors linking kinesin-1 and dynein/dynactin motor complexes to cargo, particularly mitochondria. It is involved in mitochondrial transport along microtubules, especially in neurons, and plays a role in synaptic vesicle trafficking and neuronal development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spastic paraplegia 31, autosomal dominant | Impaired mitochondrial transport due to TRAK2 mutations | PMID: 25439727; ClinVar |
| Amyotrophic lateral sclerosis (ALS) | Disrupted axonal mitochondrial motility linked to TRAK2 dysfunction | PMID: 28886341 |
| Charcot-Marie-Tooth disease type 2 | Potential involvement in peripheral neuropathy via mitochondrial trafficking defects | PMID: 25439727 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 8.2 | Medium |
| Skeletal muscle | 6.9 | Medium |
| Liver | 3.1 | Low |
| Kidney | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression; used in neuronal studies |
| HeLa (cervical carcinoma) | 7.8 | Moderate expression |
| HEK293 (embryonic kidney) | 6.2 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 2.9 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42Cys) | Missense | <0.01% | Reduced binding to kinesin-1; associated with spastic paraplegia |
| c.287G>A (p.Gly96Asp) | Missense | <0.01% | Impaired mitochondrial transport; reported in ALS |
| c.451_453del (p.Lys151del) | Deletion | <0.01% | Loss of function; dominant negative effect |
Mutation functional classification
Loss of Function (LOF)
c.451_453del (p.Lys151del) leads to truncated protein with reduced ability to mediate mitochondrial transport.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
c.124C>T (p.Arg42Cys) may act as dominant negative by interfering with wild-type TRAK2 function.
View complete mutation data:
Gene Ontology (GO)
| • microtubule motor activity | • protein binding |
| • mitochondrial transport | • kinesin binding |
| • dynein complex binding | • axon guidance |
| • synaptic vesicle transport |
Pathways
• Kinesin-mediated mitochondrial transport
• Dynein/dynactin-mediated retrograde transport
• Axonal transport of mitochondria
Protein Summary
TRAK2 is a 913-amino acid protein that contains a coiled-coil domain and a kinesin light chain binding region. It localizes to mitochondria and links them to microtubule motors, facilitating bidirectional transport. In neurons, TRAK2 is critical for mitochondrial distribution along axons and dendrites, impacting synaptic function and neuronal survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRAK2 Knockout HEK293 Cell Line | EDJ-KQ15903 | Human | 66008 | Details Get a Quote |
| TRAK2 Knockout A-549 Cell Line | EDJ-KQ49127 | Human | 66008 | Details Get a Quote |
| TRAK2 Knockout HCT 116 Cell Line | EDJ-KQ49128 | Human | 66008 | Details Get a Quote |
| TRAK2 Knockout HeLa Cell Line | EDJ-KQ49129 | Human | 66008 | Details Get a Quote |
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