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RANBP2

Chr 2q13

RAN binding protein 2

Aliases:
NUP358, ADANE
MANE:
ENST00000283195.11

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Likely inborn error of metabolism

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Undiagnosed metabolic disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Childhood onset dystonia, chorea or related movement disorder

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • familial acute necrotizing encephalopathy

    0.70
  • HIV infectious disease

    0.55
  • influenza

    0.54
  • viral infectious disease

    0.54
  • neurodegenerative disease

    0.53
  • hepatocellular carcinoma

    0.50
  • cancer

    0.47
  • squamous cell lung carcinoma

    0.42
  • inflammatory myofibroblastic tumor

    0.38
  • COVID-19

    0.38

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

E3 SUMO-protein ligase RanBP2

E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I (PubMed:11792325, PubMed:12032081, PubMed:15378033, PubMed:15931224, PubMed:22194619). Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates (PubMed:7775481). Binds single-stranded RNA (in vitro) (PubMed:7775481). May bind DNA (PubMed:7775481). Component of the nuclear export pathway (PubMed:10078529). Specific docking site for the nuclear export factor exportin-1 (PubMed:10078529). Inhibits EIF4E-dependent mRNA export (PubMed:22902403). Sumoylates PML at 'Lys-490' which is essential for the proper assembly of PML-NB (PubMed:22155184). Recruits BICD2 to the nuclear envelope and cytoplasmic stacks of nuclear pore complex known as annulate lamellae during G2 phase of cell cycle (PubMed:20386726). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357, PubMed:23353830)

Curated MONDO disease pages that list RANBP2 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.