HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NUP85
nucleoporin 85
Chromosome 17 Β· 17q25.1
NCBI Gene: 79902Ensembl: ENSG00000125450.11HGNC: HGNC:8734UniProt: F5H0W7
129PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
kinetochoreprotein bindingnephron developmentnuclear envelopenephrotic syndromeHIV infectioninfluenzaviral disease
✦AI Summary

NUP85 is an essential component of the nuclear pore complex (NPC) that plays critical roles in cellular transport and development 1. As part of the Nup107-160 subcomplex, NUP85 is required for NPC assembly and maintenance, RNA export, and tethering other nucleoporins to the nucleus 1. The protein also functions in spindle assembly during mitosis and is involved in nephrogenesis 1. Pathogenic variants in NUP85 cause autosomal recessive steroid-resistant nephrotic syndrome (SRNS), with patients typically presenting focal segmental glomerulosclerosis at kidney biopsy 12. The phenotypic spectrum has expanded beyond nephropathy to include primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders, characterized by intellectual disability, growth retardation, and neurological features 345. NUP85-associated SRNS typically manifests around age 7 years and progresses to kidney failure by median age 8.5 years, with most patients showing resistance to immunosuppressive therapy 1. The protein appears critical for brain development, as mutations cause severe neurodevelopmental impairment including microcephaly, seizures, and corpus callosum abnormalities 5. Recent studies also implicate NUP85 in metabolic dysfunction-associated steatotic liver disease, suggesting broader physiological roles 6.

Sources cited
1
NUP85 is essential NPC component, causes autosomal recessive SRNS with median onset age 7 years and progression to kidney failure by 8.5 years
PMID: 39331077
2
Pathogenic NUP85 variants cause SRNS with focal segmental glomerulosclerosis on kidney biopsy
PMID: 39814977
3
NUP85 variants cause primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders without SRNS
PMID: 34170319
4
NUP85 mutations cause microcephaly phenotype, expanding the disease spectrum
PMID: 36846113
5
NUP85 mutations cause severe neurodevelopmental impairment with microcephaly, seizures, and brain structural abnormalities
PMID: 38136965
6
NUP85 is implicated in metabolic dysfunction-associated steatotic liver disease
PMID: 41413582
Disease Associationsβ“˜21
nephrotic syndromeOpen Targets
0.68Moderate
HIV infectionOpen Targets
0.54Moderate
influenzaOpen Targets
0.54Moderate
viral diseaseOpen Targets
0.53Moderate
Seckel syndromeOpen Targets
0.37Weak
COVID-19Open Targets
0.37Weak
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.37Weak
HistiocytosisOpen Targets
0.37Weak
systemic sclerodermaOpen Targets
0.11Weak
peripheral arterial diseaseOpen Targets
0.09Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.07Suggestive
diabetes mellitusOpen Targets
0.07Suggestive
infectionOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
non-alcoholic steatohepatitisOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
steroid-resistant nephrotic syndromeOpen Targets
0.02Suggestive
Nephrotic syndrome 17UniProt
Pathogenic Variants4
NM_024844.5(NUP85):c.1379G>A (p.Arg460Gln)Likely pathogenic
Nephrotic syndrome, type 17
β˜…β˜†β˜†β˜†2025β†’ Residue 460
NM_024844.5(NUP85):c.1933C>T (p.Arg645Trp)Likely pathogenic
Nephrotic syndrome, type 17
β˜…β˜†β˜†β˜†2019β†’ Residue 645
NM_024844.5(NUP85):c.1741G>C (p.Ala581Pro)Likely pathogenic
Nephrotic syndrome, type 17
β˜…β˜†β˜†β˜†2019β†’ Residue 581
NM_024844.5(NUP85):c.405+1G>APathogenic
Nephrotic syndrome, type 17
β˜†β˜†β˜†β˜†2018
View on ClinVar β†—
Related Genes
KPNB1Protein interaction100%RANGAP1Protein interaction100%NXF1Protein interaction100%SEH1LProtein interaction99%NUP35Protein interaction99%NUP98Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
67%
Ovary
64%
Liver
60%
Heart
37%
Brain
30%
Gene Interaction Network
Click a node to explore
NUP85KPNB1RANGAP1NXF1SEH1LNUP35NUP98
PROTEIN STRUCTURE
Preparing viewer…
PDB7R5K Β· 12.00 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.35Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.25 [0.17–0.35]
RankingsWhere NUP85 stands among ~20K protein-coding genes
  • #3,632of 20,598
    Most Researched129 Β· top quartile
  • #3,721of 5,498
    Most Pathogenic Variants4
  • #1,554of 17,882
    Most Constrained (LOEUF)0.35 Β· top 10%
Genes detectedNUP85
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.
PMID: 38136965
Genes (Basel) Β· 2023
1.00
2
NUP85 siRNA loaded red blood cell-derived extracellular vesicles alleviate hepatic steatosis in MASLD.
PMID: 41413582
J Nanobiotechnology Β· 2025
0.90
3
Nucleoporin-associated steroid-resistant nephrotic syndrome.
PMID: 39331077
Pediatr Nephrol Β· 2025
0.80
4
Candida albicans biofilm-defective mutants.
PMID: 16087754
Eukaryot Cell Β· 2005
0.70
5
Case report: Compound heterozygous
PMID: 36846113
Front Neurol Β· 2023
0.60