DCTN3
Dynactin Subunit 3
Gene Information Card
| Symbol | DCTN3 |
|---|---|
| Full Name | Dynactin Subunit 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 11258 ncbi.nlm.nih.gov/gene/11258 |
| Ensembl ID | ENSG00000137100 |
| UniProt ID | O75935 |
| OMIM ID | 607381 |
| HGNC ID | 2712 |
| Aliases | DCTN22, p22 |
Description
DCTN3 encodes the p22 subunit of dynactin, a multi-subunit complex that activates cytoplasmic dynein for retrograde microtubule-based transport. The p22 subunit is essential for dynactin assembly and links the complex to cargo and the pericentriolar matrix. DCTN3 mutations are associated with Perry syndrome and may contribute to motor neuron degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Perry syndrome | Missense mutations in DCTN3 impair dynactin function, leading to TDP-43 pathology and neurodegeneration | OMIM #607381; PMID: 25401298 |
| Amyotrophic lateral sclerosis (ALS) | DCTN3 variants may disrupt dynein-mediated axonal transport, contributing to motor neuron loss | ClinVar; PMID: 25401298 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 8.1 | Low |
| Heart | 7.5 | Low |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| SH-SY5Y | 9.8 | Medium expression |
| K562 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157C>T (p.Arg53Trp) | Missense | Rare | Impaired dynactin assembly; associated with Perry syndrome |
| c.197G>A (p.Gly66Glu) | Missense | Rare | Reduced dynein binding; potential ALS risk |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in DCTN3 disrupt dynactin complex integrity, impairing retrograde transport and causing neuronal vulnerability.
Gain of Function (GOF)
No gain-of-function mutations reported for DCTN3.
Dominant Negative (DN)
Dominant-negative effects are proposed for missense mutations (e.g., p.Arg53Trp) that interfere with wild-type dynactin function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa04145 – Phagosome
• hsa04820 – Cytoskeleton in muscle cells
• hsa05131 – Shigellosis
• hsa05132 – Salmonella infection
• hsa05135 – Yersinia infection
• hsa05166 – Human T-cell leukemia virus 1 infection
Protein Summary
Dynactin subunit 3 (p22) is a 22 kDa protein that forms part of the dynactin complex. It binds directly to the p150Glued subunit and is required for stable assembly of the complex. p22 also interacts with the centrosome and Golgi apparatus, facilitating dynein-mediated vesicle and organelle transport. Mutations in DCTN3 cause Perry syndrome, a rare neurodegenerative disorder characterized by parkinsonism, depression, and weight loss.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCTN3 Knockout HEK293 Cell Line | EDJ-KQ51058 | Human | 11258 | Details Get a Quote |
| DCTN3 Knockout HeLa Cell Line | EDJ-KQ55615 | Human | 11258 | Details Get a Quote |
| DCTN3 Knockout A-549 Cell Line | EDJ-KQ64114 | Human | 11258 | Details Get a Quote |
| DCTN3 Knockout HCT 116 Cell Line | EDJ-KQ72559 | Human | 11258 | Details Get a Quote |
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