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NUP85

Chr 17q25.1

nucleoporin 85

Aliases:
NUP75, FLJ12549
MANE:
ENST00000245544.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Proteinuric renal disease

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • nephrotic syndrome

    0.64
  • HIV infectious disease

    0.54
  • influenza

    0.54
  • viral infectious disease

    0.53
  • Seckel syndrome

    0.37
  • microcephalic primordial dwarfism

    0.37
  • COVID-19

    0.37
  • Histiocytosis

    0.37
  • familial idiopathic steroid-resistant nephrotic syndrome

    0.37
  • systemic sclerosis

    0.17

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

Protein function (UniProt)

Nuclear pore complex protein Nup85

Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance (PubMed:12718872). As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP96/Nup98 and NUP153 to the nucleus (PubMed:12718872). The Nup107-160 complex seems to be required for spindle assembly during mitosis (PubMed:16807356). NUP85 is required for membrane clustering of CCL2-activated CCR2 (PubMed:15995708). Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl-inositol 3-kinase-Rac-lammellipodium protrusion cascade (PubMed:15995708). Involved in nephrogenesis (PubMed:30179222)

Curated MONDO disease pages that list NUP85 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.