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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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RANBP2 evolution and human disease.

Sophie Desgraupes1, Lucie Etienne2, Nathalie J Arhel1

  • 1Institut de Recherche en Infectiologie de Montpellier (IRIM), University of Montpellier, France.

FEBS Letters
|October 5, 2023
PubMed
Summary

Ran-binding protein 2 (RANBP2) is crucial for nuclear pore complex function and cellular processes. Its dysregulation causes diseases, and its evolutionary gene family, RGPD, remains understudied.

Keywords:
ANE1NPCRANBP2RGPDdiseaseevolutionnucleocytoplasmic transport

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Area of Science:

  • Cell Biology
  • Molecular Biology
  • Genetics

Background:

  • Ran-binding protein 2 (RANBP2/Nup358) is a vital nucleoporin in the nuclear pore complex.
  • RANBP2 participates in diverse cellular functions, including SUMOylation and nucleocytoplasmic transport.
  • RANBP2's roles extend to the nuclear envelope, kinetochores, and annulate lamellae.

Purpose of the Study:

  • To review the evolutionary appearance and significance of RANBP2 in metazoans.
  • To discuss pathologies linked to RANBP2 dysregulation, including altered expression, localization, or mutations.
  • To highlight the understudied gene family RANBP2 and GCC2 Protein Domains (RGPD) and their potential evolutionary advantage.

Main Methods:

  • Literature review of RANBP2 functions, pathologies, and evolution.
  • Analysis of gene family evolution, including gene loss/duplication events in apes.
  • Synthesis of current knowledge on RANBP2's role in human diseases and viral infections.

Main Results:

  • RANBP2 is implicated in various cellular processes and its dysregulation is linked to acute necrotizing encephalopathy 1, cancer, and neurodegenerative diseases.
  • The RANBP2 gene region exhibits high structural variation, leading to the RGPD gene family during ape evolution.
  • Despite evolutionary evidence suggesting a benefit, RGPD functions are largely unknown.

Conclusions:

  • RANBP2 is essential in metazoans, with its altered expression or mutation leading to significant human pathologies.
  • The evolutionary dynamics of the RANBP2 gene and the RGPD family warrant further investigation.
  • Understanding RANBP2's multifaceted roles and associated diseases is critical for future research and therapeutic strategies.