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GeneE
26 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.
NUP160
nucleoporin 160
Chromosome 11 Β· 11p11.2
NCBI Gene: 23279Ensembl: ENSG00000030066.14HGNC: HGNC:18017UniProt: A0A8V8NBT1
156PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
kinetochoreprotein bindingstructural constituent of nuclear poremRNA export from nucleusnephrotic syndromeinfluenzaHIV infectionviral disease
✦AI Summary

NUP160 encodes nucleoporin 160, a structural component of the nuclear pore complex (NPC) that facilitates nucleocytoplasmic transport and mRNA export 1. The protein functions as part of the nuclear pore outer ring and is involved in poly(A)+ RNA transport across the nuclear envelope 1. In kidney physiology, NUP160 plays a critical role in podocyte function, where its knockdown impairs cell proliferation, induces apoptosis and autophagy, and alters the expression and localization of key podocyte-associated molecules including nephrin, podocin, and CD2AP 2. NUP160 regulates autophagy through the JAK2/STAT3 signaling pathway, with decreased NUP160 levels associated with enhanced autophagy suppression 3. Pathogenic variants in NUP160 cause autosomal recessive steroid-resistant nephrotic syndrome (SRNS), typically presenting with focal segmental glomerulosclerosis and onset around age 7 years 14. Functional validation in Drosophila nephrocytes demonstrates that NUP160 mutations lead to cellular abnormalities including reduced cell size, altered nuclear architecture, and disrupted nuclear pore complex organization 4. The protein has also been implicated in cancer progression, particularly in lung adenocarcinoma where it contributes to autophagy suppression and metastasis 5.

Sources cited
1
NUP160 is a nuclear pore complex component involved in nucleocytoplasmic transport and causes steroid-resistant nephrotic syndrome
PMID: 39331077
2
NUP160 knockdown impairs podocyte function, affecting proliferation, apoptosis, and podocyte-associated molecule expression
PMID: 29704630
3
NUP160 regulates autophagy through JAK2/STAT3 signaling pathway in diabetic nephropathy
PMID: 38043110
4
NUP160 mutations cause SRNS and functional validation shows cellular defects in Drosophila nephrocytes
PMID: 30910934
5
NUP160 contributes to lung adenocarcinoma progression through autophagy suppression
PMID: 40629330
Disease Associationsβ“˜21
nephrotic syndromeOpen Targets
0.57Moderate
HIV infectionOpen Targets
0.54Moderate
influenzaOpen Targets
0.54Moderate
viral diseaseOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.48Moderate
Alzheimer diseaseOpen Targets
0.43Moderate
lysosomal storage diseaseOpen Targets
0.42Moderate
multiple sclerosisOpen Targets
0.42Moderate
Parkinson diseaseOpen Targets
0.42Moderate
COVID-19Open Targets
0.37Weak
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.37Weak
HistiocytosisOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.35Weak
Pancreatic pseudocystOpen Targets
0.27Weak
hypertrophic cardiomyopathyOpen Targets
0.25Weak
benign chondrogenic neoplasmOpen Targets
0.25Weak
metabolic syndromeOpen Targets
0.23Weak
glaucomaOpen Targets
0.20Weak
hypertensionOpen Targets
0.18Weak
diabetic neuropathyOpen Targets
0.17Weak
Nephrotic syndrome 19UniProt
Pathogenic Variants8
NM_015231.3(NUP160):c.1645del (p.Glu549fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 549
NM_015231.3(NUP160):c.2271_2273+1delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_015231.3(NUP160):c.991C>T (p.Arg331Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 331
NM_015231.3(NUP160):c.3032C>A (p.Ser1011Ter)Likely pathogenic
Nephrotic syndrome, type 19
β˜…β˜†β˜†β˜†2025β†’ Residue 1011
NM_015231.3(NUP160):c.3943G>T (p.Glu1315Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1315
NM_015231.3(NUP160):c.4148_4149del (p.Glu1383fs)Pathogenic
Nephrotic syndrome, type 19
β˜…β˜†β˜†β˜†β†’ Residue 1383
NM_015231.3(NUP160):c.2176C>T (p.Gln726Ter)Likely pathogenic
NUP160-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 726
NM_015231.3(NUP160):c.1077+5G>APathogenic
Nephrotic syndrome, type 19
β˜†β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
KPNB1Protein interaction100%RANGAP1Protein interaction100%POM121Protein interaction100%XPOTProtein interaction100%NDC1Protein interaction99%SEH1LProtein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
92%
Lung
66%
Heart
52%
Liver
48%
Brain
42%
Gene Interaction Network
Click a node to explore
NUP160KPNB1RANGAP1POM121XPOTNDC1SEH1L
PROTEIN STRUCTURE
Preparing viewer…
PDB7R5K Β· 12.00 Γ… Β· EM
View on RCSB β†—
RankingsWhere NUP160 stands among ~20K protein-coding genes
  • #2,893of 20,598
    Most Researched156 Β· top quartile
  • #3,039of 5,498
    Most Pathogenic Variants8
Genes detectedNUP160
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
An improved smaller biotin ligase for BioID proximity labeling.
PMID: 26912792
Mol Biol Cell Β· 2016
1.00
2
A multi-omics Mendelian randomization study identifies new therapeutic targets for alcohol use disorder and problem drinking.
PMID: 39528761
Nat Hum Behav Β· 2025
0.90
3
Possible Molecular Markers for the Diagnosis of Pancreatic Ductal Adenocarcinoma.
PMID: 29671412
Med Sci Monit Β· 2018
0.84
4
M6A-Methylated circRAPGEF5 drives lung adenocarcinoma progression and metastasis via IGF2BP2/NUP160-mediated autophagy suppression.
PMID: 40629330
Mol Cancer Β· 2025
0.80
5
Nucleoporin-associated steroid-resistant nephrotic syndrome.
PMID: 39331077
Pediatr Nephrol Β· 2025
0.70