DYNC1I2 Gene

DYNC1I2 Gene

Overview

Dync1I2 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.

Introduction

Dync1I2 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@hirokawa1998]

<div class="infobox infobox-gene"> [@kardon2009]

DYNC1I2 [@reckpeterson2019]

• Dynein Cytoplasmic 1 Intermediate Chain 2

| | | [@maday2014]
|---|---| [@stamp2018]
| Symbol | DYNC1I2 | [@ebbing2008]
| Full Name | Dynein Cytoplasmic 1 Intermediate Chain 2 | [@goldstein2008]
| Chromosome | 4p15.32 |
| NCBI Gene ID | [1780](https://www.ncbi.nlm.nih.gov/gene/1780) |
| OMIM | [603166](https://www.omim.org/entry/603166) |
| Ensembl ID | [ENSG00000077380](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000077380) |
| UniProt ID | [Q86X29](https://www.uniprot.org/uniprot/Q86X29) |
| Encoded Protein | [Dynein Intermediate Chain Protein](/proteins/dync1i2-protein) |
| Associated Diseases | [Spinal Muscular Atrophy](/diseases/spinal-muscular-atrophy), [Charcot-Marie-Tooth Disease](/diseases/charcot-marie-tooth-disease), [Axonal Transport Defects](/mechanisms/axonal-transport-defects) |

</div>

Function

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DYNC1I2 Gene

Overview

Dync1I2 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.

Introduction

Dync1I2 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@hirokawa1998]

<div class="infobox infobox-gene"> [@kardon2009]

DYNC1I2 [@reckpeterson2019]

• Dynein Cytoplasmic 1 Intermediate Chain 2

| | | [@maday2014]
|---|---| [@stamp2018]
| Symbol | DYNC1I2 | [@ebbing2008]
| Full Name | Dynein Cytoplasmic 1 Intermediate Chain 2 | [@goldstein2008]
| Chromosome | 4p15.32 |
| NCBI Gene ID | [1780](https://www.ncbi.nlm.nih.gov/gene/1780) |
| OMIM | [603166](https://www.omim.org/entry/603166) |
| Ensembl ID | [ENSG00000077380](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000077380) |
| UniProt ID | [Q86X29](https://www.uniprot.org/uniprot/Q86X29) |
| Encoded Protein | [Dynein Intermediate Chain Protein](/proteins/dync1i2-protein) |
| Associated Diseases | [Spinal Muscular Atrophy](/diseases/spinal-muscular-atrophy), [Charcot-Marie-Tooth Disease](/diseases/charcot-marie-tooth-disease), [Axonal Transport Defects](/mechanisms/axonal-transport-defects) |

</div>

Function

The DYNC1I2 gene encodes Dynein Intermediate Chain Protein, a protein involved in various cellular processes relevant to neuronal function and survival. This gene is implicated in the pathogenesis of several neurodegenerative diseases.

Disease Associations

| Disease | Inheritance | Key Mutations |
|---------|-------------|---------------|
| Spinal Muscular Atrophy | Various | Pathogenic variants |
| Charcot-Marie-Tooth Disease | Various | Pathogenic variants |
| Axonal Transport Defects | Various | Pathogenic variants |

Expression

DYNC1I2 is expressed in various brain regions, with notable expression in:

• Cerebral [cortex](/brain-regions/cortex)
• [Hippocampus](/brain-regions/hippocampus)
• Basal ganglia
• [Cerebellum](/brain-regions/cerebellum)

Expression data is available from the [Allen Human Brain Atlas](https://human.brain-map.org/microarray/search/show?search_term=DYNC1I2).

Key Publications

[NCBI Gene Entry](https://www.ncbi.nlm.nih.gov/gene/1780)

[UniProt Entry](https://www.uniprot.org/uniprot/Q86X29)

Cross-Links

• [Protein: Dynein Intermediate Chain Protein](/proteins/dync1i2-protein)
• [Spinal Muscular Atrophy](/diseases/spinal-muscular-atrophy), [Charcot-Marie-Tooth Disease](/diseases/charcot-marie-tooth-disease), [Axonal Transport Defects](/mechanisms/axonal-transport-defects)

Overview

Dync1I2 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.

Background

The study of Dync1I2 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

See Also

• [/mechanisms/genetics](/mechanisms/genetics)
• [/mechanisms/apoe4-alzheimers](/mechanisms/apoe4-alzheimers)
• [/mechanisms/biomarkers-alzheimers](/mechanisms/biomarkers-alzheimers)
• [/entities/p-tau217](/biomarkers/p-tau-217)biomarkers/p-tau217)
• [/diseases](/diseases)

External Links

• [PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
• [Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
• [Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data

References

[Vallee RB, et al, Cytoplasmic dynein: a power for neuronal transport (2001)](https://pubmed.ncbi.nlm.nih.gov/11747810/)

[Hirokawa N, Kinesin and dynein superfamily proteins and the mechanism of organelle transport (1998)](https://pubmed.ncbi.nlm.nih.gov/9438838/)

[Kardon JR, Vale RD, Regulators of the cytoplasmic dynein motor (2009)](https://pubmed.ncbi.nlm.nih.gov/19935668/)

[Reck-Peterson SL, et al, The dynein heavy chain: structure, mechanics and regulation (2019)](https://pubmed.ncbi.nlm.nih.gov/27374308/)

[Maday S, et al, Axonal transport: cargo-specific mechanisms of motility and regulation (2014)](https://pubmed.ncbi.nlm.nih.gov/25374355/)

[Stamp T, et al, The role of axonal transport in neurodegenerative diseases (2018)](https://pubmed.ncbi.nlm.nih.gov/29368183/)

[Ebbing B, et al, Dysfunction of axonal transport in hereditary spastic paraplegia (2008)](https://pubmed.ncbi.nlm.nih.gov/18250098/)

[Goldstein AY, et al, Axonal transport and the cytoskeleton (2008)](https://pubmed.ncbi.nlm.nih.gov/18929656/)