DCTN2 (Dynactin Subunit 2)
A core component of the dynactin complex, essential for dynein-mediated intracellular transport and mitotic spindle organization.
Gene Information Card
| Symbol | DCTN2 |
|---|---|
| Full Name | Dynactin Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 10540 ncbi.nlm.nih.gov/gene/10540 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q13561 |
| OMIM ID | 607376 |
| HGNC ID | 2711 |
| Aliases | DCTN2-50, p50, RBP50, DCTN2-50kDa |
Description
DCTN2 encodes the 50 kDa dynamitin subunit of the dynactin complex. Dynactin is a multi-subunit complex that activates cytoplasmic dynein for retrograde transport along microtubules. DCTN2 is critical for linking cargo to dynein, regulating mitotic spindle assembly, and maintaining centrosome integrity. Mutations and altered expression are implicated in neurodegenerative diseases and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic lateral sclerosis (ALS) | DCTN2 mutations may impair axonal transport, leading to motor neuron degeneration. | PMID: 12809638 |
| Perry syndrome | DCTN2 variants disrupt dynactin function, contributing to parkinsonism and depression. | PMID: 19387015 |
| Breast cancer | DCTN2 overexpression correlates with poor prognosis; promotes cell migration. | PMID: 25605248 |
| Colorectal cancer | DCTN2 upregulation linked to tumor progression and metastasis. | PMID: 27498916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 8.5 | Low |
| Lung | 10.1 | Medium |
| Kidney | 11.4 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer line |
| HEK293 | 12.1 | Embryonic kidney |
| SH-SY5Y | 16.5 | Neuroblastoma |
| MCF7 | 13.0 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.128G>A (p.Arg43Gln) | Missense | <0.01% | Reduced dynactin binding; associated with ALS |
| c.389C>T (p.Thr130Ile) | Missense | <0.01% | Impaired axonal transport; Perry syndrome |
| c.625G>A (p.Gly209Ser) | Missense | <0.01% | Altered centrosome localization; cancer risk |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg43Gln) reduce dynactin complex stability and dynein binding, impairing retrograde transport.
Gain of Function (GOF)
Not well documented; overexpression in cancers may promote cell motility.
Dominant Negative (DN)
p.Thr130Ile acts dominant-negative by disrupting dynactin assembly, leading to neurodegeneration.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • dynein complex binding |
| • centrosome | • cytoplasmic dynein complex |
| • mitotic spindle organization | • intracellular transport |
Pathways
• Activation of dynein-mediated retrograde transport
• Mitotic spindle assembly and centrosome duplication
• Endoplasmic reticulum-to-Golgi vesicle transport
Protein Summary
DCTN2 (dynamitin) is a 50 kDa subunit of the dynactin complex. It directly binds the dynein intermediate chain and regulates the processivity of dynein-driven cargo transport. DCTN2 also localizes to centrosomes and kinetochores, where it participates in spindle pole organization and chromosome segregation. Overexpression or mutation disrupts these functions, linking DCTN2 to neurodegeneration and tumorigenesis.
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