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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NUP88
nucleoporin 88
Chromosome 17 · 17p13.2
NCBI Gene: 4927Ensembl: ENSG00000108559.13HGNC: HGNC:8067UniProt: B4DP20
142PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nuclear poreprotein bindingnuclear envelopemRNA export from nucleusfetal akinesia deformation sequence 1influenzaHIV infectionviral disease
✦AI Summary

NUP88 is a nucleoporin component of the nuclear pore complex (NPC) that mediates nucleocytoplasmic transport, including mRNA and ribosomal subunit export from the nucleus 1. Beyond canonical nuclear transport, NUP88 has critical roles in cell cycle regulation. NUP88 interacts with glutamine synthetase to prevent NUP88 binding to CDC20, thereby licensing anaphase-promoting complex (APC/C) activation and ensuring proper metaphase-to-anaphase transition 2. When overexpressed, NUP88 sequesters NUP98-RAE1 from APC/C-CDH1, triggering premature proteolysis of polo-like kinase 1 (PLK1) and causing chr17 instability and aneuploidy 3. NUP88 overexpression also promotes cancer cell migration and invasion through matrix metalloproteinase-12 (MMP-12) upregulation 4. Clinically, NUP88 is frequently overexpressed across diverse human malignancies—including carcinomas, sarcomas, melanomas, and gliomas—correlating with aggressive phenotypes and reduced survival 56. Additionally, NUP88 mutations are associated with fetal akinesia deformation sequence 4. The protein also functions in germ granule organization, anchoring these structures to nuclear pores alongside other nucleoporins 1.

Sources cited
1
NUP88 is a conserved nucleoporin that anchors germ granules to nuclear pores and regulates small RNA silencing pathways
PMID: 40341687
2
NUP88 directly interacts with glutamine synthetase to prevent CDC20 binding and license APC/C-mediated metaphase-to-anaphase transition
PMID: 35145325
3
NUP88 overexpression promotes aneuploidy by sequestering NUP98-RAE1 from APC/C-CDH1, causing premature PLK1 degradation and mitotic defects
PMID: 26731471
4
NUP88 overexpression enhances cervical cancer cell migration and invasion through MMP-12 upregulation
PMID: 34331103
5
NUP88 is frequently overexpressed in diverse human malignancies including carcinomas, sarcomas, and melanomas, serving as a diagnostic marker
PMID: 12094380
6
NUP88 expression increases from normal mucosa to adenoma and colorectal adenocarcinoma, correlating with tumor aggressiveness
PMID: 17264541
7
NUP88 is part of the Nup214-Nup88-Nup62 complex within the nuclear pore complex cytoplasmic ring
PMID: 35679401
Disease Associationsⓘ21
fetal akinesia deformation sequence 1Open Targets
0.66Moderate
HIV infectionOpen Targets
0.54Moderate
influenzaOpen Targets
0.54Moderate
viral diseaseOpen Targets
0.53Moderate
fetal akinesia deformation sequenceOpen Targets
0.38Weak
COVID-19Open Targets
0.37Weak
HistiocytosisOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.33Weak
Alzheimer diseaseOpen Targets
0.32Weak
lysosomal storage diseaseOpen Targets
0.31Weak
multiple sclerosisOpen Targets
0.31Weak
Parkinson diseaseOpen Targets
0.31Weak
obesityOpen Targets
0.24Weak
menopauseOpen Targets
0.16Weak
teratomaOpen Targets
0.11Weak
cancerOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
gestational diabetesOpen Targets
0.04Suggestive
tricuspid valve diseaseOpen Targets
0.03Suggestive
endometrial cancerOpen Targets
0.03Suggestive
Fetal akinesia deformation sequence 4UniProt
Pathogenic Variants3
NM_002532.6(NUP88):c.1300G>T (p.Asp434Tyr)Pathogenic
Fetal akinesia deformation sequence 4
☆☆☆☆2019→ Residue 434
NM_002532.6(NUP88):c.1525C>T (p.Arg509Ter)Pathogenic
Fetal akinesia deformation sequence 4
☆☆☆☆2019→ Residue 509
NM_002532.6(NUP88):c.1899_1901del (p.Glu634del)Pathogenic
Fetal akinesia deformation sequence 4
☆☆☆☆2019→ Residue 634
View on ClinVar ↗
Related Genes
DDX3XProtein interaction100%RANBP2Protein interaction100%GLE1Protein interaction99%NDC1Protein interaction99%SEH1LProtein interaction99%AAASProtein interaction99%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
94%
Heart
72%
Brain
65%
Lung
57%
Ovary
50%
Gene Interaction Network
Click a node to explore
NUP88DDX3XRANBP2GLE1NDC1SEH1LAAAS
PROTEIN STRUCTURE
Preparing viewer…
PDB7MNI · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.58 [0.45–0.75]
RankingsWhere NUP88 stands among ~20K protein-coding genes
  • #3,227of 20,598
    Most Researched142 · top quartile
  • #3,960of 5,498
    Most Pathogenic Variants3
  • #5,897of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedNUP88
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
1.00
2
Glutamine synthetase licenses APC/C-mediated mitotic progression to drive cell growth.
PMID: 35145325
Nat Metab · 2022
0.90
3
Nucleoporins shape germ granule architecture and balance small RNA silencing pathways.
PMID: 40341687
Nat Commun · 2025
0.80
4
Nuclear pore protein NUP88 activates anaphase-promoting complex to promote aneuploidy.
PMID: 26731471
J Clin Invest · 2016
0.70
5
Nup88 (karyoporin) in human malignant neoplasms and dysplasias: correlations of immunostaining of tissue sections, cytologic smears, and immunoblot analysis.
PMID: 12094380
Hum Pathol · 2002
0.60