RANBP2 — RAN Binding Protein 2

<table class="infobox infobox-gene">
<tr><th class="infobox-header" colspan="2">RANBP2</th></tr>
<tr><td class="label">Full Name</td><td>RAN Binding Protein 2</td></tr>
<tr><td class="label">Chromosome</td><td>2q12.3</td></tr>
<tr><td class="label">NCBI Gene ID</td><td><a href="https://www.ncbi.nlm.nih.gov/gene/9918" target="_blank">9918</a></td></tr>
<tr><td class="label">Ensembl ID</td><td>ENSG00000136404</td></tr>
<tr><td class="label">OMIM ID</td><td>601181</td></tr>
<tr><td class="label">UniProt ID</td><td><a href="https://www.uniprot.org/uniprot/P49792" target="_blank">P49792</a></td></tr>
<tr><td class="label">Associated Diseases</td><td>[ALS](/diseases/als), Acute Necrotizing Encephalopathy</td></tr>
</table>

RANBP2 — RAN Binding Protein 2

Introduction

Ranbp2 — Ran Binding Protein 2 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

...

<table class="infobox infobox-gene">
<tr><th class="infobox-header" colspan="2">RANBP2</th></tr>
<tr><td class="label">Full Name</td><td>RAN Binding Protein 2</td></tr>
<tr><td class="label">Chromosome</td><td>2q12.3</td></tr>
<tr><td class="label">NCBI Gene ID</td><td><a href="https://www.ncbi.nlm.nih.gov/gene/9918" target="_blank">9918</a></td></tr>
<tr><td class="label">Ensembl ID</td><td>ENSG00000136404</td></tr>
<tr><td class="label">OMIM ID</td><td>601181</td></tr>
<tr><td class="label">UniProt ID</td><td><a href="https://www.uniprot.org/uniprot/P49792" target="_blank">P49792</a></td></tr>
<tr><td class="label">Associated Diseases</td><td>[ALS](/diseases/als), Acute Necrotizing Encephalopathy</td></tr>
</table>

RANBP2 — RAN Binding Protein 2

Introduction

Ranbp2 — Ran Binding Protein 2 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

RANBP2 (RAN Binding Protein 2) is a large gene encoding a nucleoporin protein that is a component of the nuclear pore complex. It plays critical roles in nucleocytoplasmic transport, protein quality control, and neuronal function.

Function

RANBP2 encodes a massive 3224 amino acid protein that serves as a critical component of the nuclear pore complex (NPC). The protein is essential for:

Nuclear Pore Function

• Nucleocytoplasmic transport: Facilitating the bidirectional transport of proteins and RNA between nucleus and cytoplasm
• NPC assembly: Contributing to the structural integrity of nuclear pores
• Transport selectivity: Providing selectivity for cargo recognition

Protein Quality Control

• SUMO E3 ligase activity: RANBP2 possesses SUMOylation activity that modifies proteins
• Chaperone function: Assisting in protein folding and preventing aggregation
• Cytoskeletal anchoring: Interacting with the cytoskeleton for proper cellular organization

Neuronal-Specific Functions

• Axonal transport: Supporting the movement of cargo along axons
• Synaptic function: Maintaining synaptic integrity and neurotransmission
• Neuronal survival: Protecting neurons from stress-induced damage

Disease Associations

Amyotrophic Lateral Sclerosis (ALS)

RANBP2 has been implicated in ALS pathogenesis:

• Nuclear transport defects: Disrupted nucleocytoplasmic transport is a hallmark of ALS
• Protein aggregation: RANBP2 dysfunction may contribute to [TDP-43](/proteins/tdp-43) and FUS mislocalization
• Genetic associations: Variants in RANBP2 have been identified in ALS patients

Acute Necrotizing Encephalopathy (ANE)

Mutations in RANBP2 cause susceptibility to ANE, a severe neurological condition:

• Infection-triggered: Often follows viral infections
• Bilateral brain lesions: Characteristic symmetric brain lesions
• Acute onset: Rapid neurological deterioration

Pathogenic Mechanisms

Nuclear pore dysfunction: Impaired nucleocytoplasmic transport

SUMOylation defects: Altered protein modification

Protein aggregation: Promoted by loss of chaperone function

Neuronal vulnerability: Selective damage to motor neurons

Expression

RANBP2 is ubiquitously expressed but shows enrichment in:

• [Neurons](/entities/neurons) (particularly motor neurons)
• Retinal cells
• Testis

Within the nervous system:

• High expression in spinal cord motor neurons
• Present in cortical neurons
• Expressed in brainstem nuclei

Key Publications

Asakura H, et al. "RANBP2 mutations cause acute necrotizing encephalopathy." Nature Genetics 2009. [DOI:10.1038/ng.376](https://doi.org/10.1038/ng.376)

Zhang K, et al. "The [C9orf72](/entities/c9orf72) repeat expansion disrupts nucleocytoplasmic transport." Nature 2015. [DOI:10.1038/nature14973](https://doi.org/10.1038/nature14973)

See Also

• [Amyotrophic Lateral Sclerosis](/diseases/als)
• [Nuclear Pore Complex](/entities/nuclear-pore-complex)
• [TDP-43](/proteins/tdp-43)
• [Nucleocytoplasmic Transport](/mechanisms/nucleocytoplasmic-transport)

External Links

• [NCBI Gene: RANBP2](https://www.ncbi.nlm.nih.gov/gene/9918)
• [UniProt: P49792](https://www.uniprot.org/uniprot/P49792)
• [OMIM: 601181](https://www.omim.org/entry/601181)

Background

The study of Ranbp2 — Ran Binding Protein 2 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.

References

Asakura H, et al, RANBP2 and acute necrotizing encephalopathy (2009)

Zhang K, et al, Nucleocytoplasmic transport in ALS (2015)

Pathway Diagram

The following diagram shows the key molecular relationships involving RANBP2 — RAN Binding Protein 2 discovered through SciDEX knowledge graph analysis: