RANBP2
RAN Binding Protein 2; Nucleoporin 358
Gene Information Card
| Symbol | RANBP2 |
|---|---|
| Full Name | RAN Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q13 |
| NCBI Gene ID | 5903 ncbi.nlm.nih.gov/gene/5903 |
| Ensembl ID | ENSG00000153250 |
| UniProt ID | P49792 |
| OMIM ID | 601181 |
| HGNC ID | 9848 |
| Aliases | NUP358, NUP358, RANBP2, ANE1 |
Description
RANBP2 encodes a large nucleoporin (NUP358) that is a component of the nuclear pore complex. It functions as a SUMO E3 ligase and facilitates RAN-GTPase-mediated nuclear transport. Mutations in RANBP2 are associated with acute necrotizing encephalopathy type 1 (ANE1), a rare autosomal dominant disorder triggered by viral infections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Necrotizing Encephalopathy Type 1 (ANE1) | Missense mutations (e.g., p.Thr585Met) impair nuclear pore function and SUMOylation, leading to increased susceptibility to cytokine storm during infection. | ClinVar, OMIM |
| Infectious Encephalopathy | RANBP2 variants predispose to recurrent encephalopathy episodes following febrile illnesses. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Medium |
| Lung | 6.5 | Low |
| Liver | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.1 | High expression |
| HeLa | 11.8 | High expression |
| K562 | 7.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1754C>T (p.Thr585Met) | Missense | Reported in multiple ANE1 families | Alters SUMO E3 ligase activity and nuclear pore integrity |
| c.1753A>G (p.Thr585Ala) | Missense | Rare | Likely pathogenic, similar mechanism |
Mutation functional classification
Loss of Function (LOF)
Not established; most ANE1 mutations are missense with dominant-negative or gain-of-function effects.
Gain of Function (GOF)
Proposed for p.Thr585Met, which may enhance SUMOylation of specific targets.
Dominant Negative (DN)
p.Thr585Met is thought to act via dominant-negative interference with nuclear pore assembly.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • SUMO transferase activity |
| • protein sumoylation | • nuclear transport |
| • RAN GTPase binding |
Pathways
• Nuclear Pore Complex (NPC) Assembly
• SUMOylation
• RAN GTPase Cycle
Protein Summary
RANBP2 (NUP358) is a 358-kDa nucleoporin localized to the cytoplasmic filaments of the nuclear pore complex. It contains multiple domains including RAN-binding domains, FG repeats, and a SUMO E3 ligase domain. It mediates nuclear import/export and regulates SUMOylation of target proteins.
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