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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NUP62
nucleoporin 62
Chromosome 19 · 19q13.33
NCBI Gene: 23636Ensembl: ENSG00000213024.14HGNC: HGNC:8066UniProt: P37198
209PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nuclear envelopeprotein bindingpositive regulation of mitotic nuclear divisionpositive regulation of DNA-templated transcriptioninfantile bilateral striatal necrosisfamilial infantile bilateral striatal necrosisHIV infectioninfluenza
✦AI Summary

NUP62 encodes nucleoporin 62, an essential component of the nuclear pore complex (NPC) that regulates nucleocytoplasmic transport and cellular function 1. The protein contains an N-terminal domain involved in nucleocytoplasmic transport and a C-terminal domain that facilitates protein-protein interactions and centrosome association 1. Beyond its canonical nuclear pore function, NUP62 plays critical roles in mitotic cell cycle progression by regulating centrosome segregation, centriole maturation, and spindle orientation 1. In stem cell biology, NUP62 alleviates senescence and promotes stemness in human dental pulp stem cells through NSD2-dependent epigenetic reprogramming, enhancing nuclear transport of transcription factor E2F1 2. The protein shows significant disease relevance in neurodegenerative disorders, particularly ALS/FTLD, where NUP62 mislocalizes to the cytoplasm and co-aggregates with TDP-43, contributing to protein insolubility and neurodegeneration 34. Nuclear import receptors like KPNB1 can rescue TDP-43 pathology by reversing aberrant phase transitions of NUP62/TDP-43 co-aggregates 5. Clinically, NUP62 expression patterns vary across cancers and correlate with prognosis, tumor immunity, and therapeutic response, suggesting potential as a biomarker for cancer diagnosis and treatment prediction 1.

Sources cited
1
NUP62 is essential component of nuclear pore complex and plays roles in cancer progression and prognosis
PMID: 40098960
2
NUP62 alleviates stem cell senescence via NSD2-dependent epigenetic reprogramming and E2F1 nuclear transport
PMID: 40246825
3
NUP62 mislocalizes in ALS/FTLD and co-aggregates with TDP-43, contributing to protein insolubility
PMID: 35697676
4
Cytoplasmic TDP-43 droplets recruit NUP62 and cause nucleocytoplasmic transport inhibition
PMID: 30853299
5
Nuclear import receptors like KPNB1 can rescue TDP-43 pathology by reversing NUP62/TDP-43 co-aggregate phase transitions
PMID: 36482422
Disease Associationsⓘ21
infantile bilateral striatal necrosisOpen Targets
0.61Moderate
familial infantile bilateral striatal necrosisOpen Targets
0.56Moderate
HIV infectionOpen Targets
0.54Moderate
influenzaOpen Targets
0.54Moderate
viral diseaseOpen Targets
0.53Moderate
COVID-19Open Targets
0.39Weak
HistiocytosisOpen Targets
0.37Weak
Intellectual disabilityOpen Targets
0.18Weak
neurodegenerative diseaseOpen Targets
0.14Weak
neoplasmOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.12Weak
cancerOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
posterior cortical atrophyOpen Targets
0.10Weak
amyotrophic lateral sclerosisOpen Targets
0.10Weak
glioblastoma multiformeOpen Targets
0.10Weak
Alzheimer diseaseOpen Targets
0.10Weak
head and neck squamous cell carcinomaOpen Targets
0.10Weak
inclusion body myositisOpen Targets
0.10Suggestive
Infantile striatonigral degenerationUniProt
Pathogenic Variants1
NM_016553.5(NUP62):c.1172A>C (p.Gln391Pro)Pathogenic
Infantile bilateral striatal necrosis
☆☆☆☆2006→ Residue 391
View on ClinVar ↗
Related Genes
NXF3Protein interaction100%KPNB1Protein interaction100%TNPO1Protein interaction100%RANProtein interaction100%RANBP1Protein interaction100%RANGAP1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
93%
Lung
80%
Ovary
76%
Heart
71%
Bone Marrow
62%
Gene Interaction Network
Click a node to explore
NUP62NXF3KPNB1TNPO1RANRANBP1RANGAP1
PROTEIN STRUCTURE
Preparing viewer…
PDB7R5K · 12.00 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.16Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.00 [0.00–0.16]
RankingsWhere NUP62 stands among ~20K protein-coding genes
  • #2,001of 20,598
    Most Researched209 · top 10%
  • #4,720of 5,498
    Most Pathogenic Variants1
  • #241of 17,882
    Most Constrained (LOEUF)0.16 · top 5%
Genes detectedNUP62
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
NUP62 alleviates senescence and promotes the stemness of human dental pulp stem cells via NSD2-dependent epigenetic reprogramming.
PMID: 40246825
Int J Oral Sci · 2025
1.00
2
NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility.
PMID: 35697676
Nat Commun · 2022
0.90
3
Cytoplasmic TDP-43 De-mixing Independent of Stress Granules Drives Inhibition of Nuclear Import, Loss of Nuclear TDP-43, and Cell Death.
PMID: 30853299
Neuron · 2019
0.80
4
Channel width modulates the permeability of DNA origami-based nuclear pore mimics.
PMID: 39536094
Sci Adv · 2024
0.70
5
Structure of cytoplasmic ring of nuclear pore complex by integrative cryo-EM and AlphaFold.
PMID: 35679401
Science · 2022
0.64