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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.
NUP188
nucleoporin 188
Chromosome 9 Β· 9q34.11
NCBI Gene: 23511Ensembl: ENSG00000095319.15HGNC: HGNC:17859UniProt: Q5SRE5
108PubMed Papers
21Diseases
0Drugs
18Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membraneprotein import into nucleusnuclear envelopenuclear pore inner ringsandestig-stefanova syndromeHIV infectioninfluenzaviral disease
✦AI Summary

NUP188 is a scaffold nucleoporin component of the nuclear pore complex (NPC) with critical roles in both canonical and non-canonical cellular functions. Primary function: NUP188 is essential for nuclear import of proteins, with bi-allelic loss-of-function causing decreased nuclear protein import in patient fibroblasts 1. As a structural constituent of the NPC inner ring, NUP188 forms question mark-shaped keystones within hetero-octameric complexes that establish NPC integrity while allowing conformational flexibility of the central transport channel 2. Beyond NPC roles, NUP188 localizes to centrosomes where differential protein turnover regulates its steady-state levels and functions in centriole duplication upstream of Sas6 loading 3. Non-classical function: NUP188 knockdown results in cilia loss, and genetic variants have been identified in patients with congenital heart disease and heterotaxy 4. Disease relevance: Bi-allelic NUP188 truncating variants cause Sandestig-Stefanova syndrome, characterized by prenatal ventriculomegaly, white-matter abnormalities, congenital cataracts, cardiac defects, and central hypoventilation 1. NUP188 is dysregulated across multiple cancer types, with elevated expression associated with poor prognosis in gastric and muscle-invasive bladder cancers and linked to metabolic reprogramming 56. Additionally, NUP188 assists Nup93 in repressing HOXA gene expression through chr9 organization 7.

Sources cited
1
Bi-allelic NUP188 loss-of-function causes neurologic, ocular, and cardiac abnormalities; decreases nuclear protein import
PMID: 32275884
2
NUP188 is a scaffold nucleoporin forming the inner ring of NPC with question mark-shaped keystones
PMID: 35679425
3
NUP188 localizes to centrosomes and functions in centriole duplication through interaction with Cep152
PMID: 32211895
4
NUP188 knockdown causes cilia loss; genetic variants associated with congenital heart disease and heterotaxy
PMID: 37908226
5
NUP188 is dysregulated in most human cancers; elevated expression associated with poor prognosis in gastric cancer
PMID: 40861463
6
NUP188 is a prognostic biomarker of poor prognosis in muscle-invasive bladder cancer linked to metabolic pathways
PMID: 40750438
7
NUP188 assists Nup93 in repressing HOXA gene expression through chromatin organization
PMID: 27980680
Disease Associationsβ“˜21
sandestig-stefanova syndromeOpen Targets
0.78Strong
HIV infectionOpen Targets
0.54Moderate
influenzaOpen Targets
0.54Moderate
viral diseaseOpen Targets
0.53Moderate
microcephalyOpen Targets
0.45Moderate
cataractOpen Targets
0.37Weak
Abnormal brain morphologyOpen Targets
0.37Weak
COVID-19Open Targets
0.37Weak
HistiocytosisOpen Targets
0.37Weak
Alzheimer diseaseOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.27Weak
lysosomal storage diseaseOpen Targets
0.27Weak
multiple sclerosisOpen Targets
0.27Weak
Parkinson diseaseOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
DK1-congenital disorder of glycosylationOpen Targets
0.17Weak
cancerOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
intracranial hemorrhageOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.03Suggestive
Sandestig-Stefanova syndromeUniProt
Pathogenic Variants18
NM_015354.3(NUP188):c.3377_3378del (p.Ser1126fs)Pathogenic
not provided|Sandestig-stefanova syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 1126
NM_015354.3(NUP188):c.4509+1G>TLikely pathogenic
Sandestig-stefanova syndrome
β˜…β˜†β˜†β˜†2024
NM_015354.3(NUP188):c.873_879del (p.Arg291fs)Pathogenic
See cases
β˜…β˜†β˜†β˜†2024β†’ Residue 291
NM_015354.3(NUP188):c.2533+23_2533+51delLikely pathogenic
Sandestig-stefanova syndrome
β˜…β˜†β˜†β˜†2023
NM_015354.3(NUP188):c.124C>T (p.Arg42Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 42
NM_015354.3(NUP188):c.2020C>T (p.Gln674Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 674
NM_015354.3(NUP188):c.1516+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_015354.3(NUP188):c.3515+1G>ALikely pathogenic
Microcephaly|Sandestig-stefanova syndrome
β˜…β˜†β˜†β˜†2020
NM_015354.3(NUP188):c.1851_1852delinsG (p.Cys617fs)Likely pathogenic
Microcephaly|Sandestig-stefanova syndrome
β˜…β˜†β˜†β˜†2020β†’ Residue 617
NM_015354.3(NUP188):c.337C>T (p.Gln113Ter)Likely pathogenic
not provided|Sandestig-stefanova syndrome
β˜…β˜†β˜†β˜†2018β†’ Residue 113
NM_015354.3(NUP188):c.4102_4103del (p.Ser1368fs)Likely pathogenic
Sandestig-stefanova syndrome
β˜…β˜†β˜†β˜†β†’ Residue 1368
NM_015354.3(NUP188):c.4024del (p.Thr1342fs)Likely pathogenic
Sandestig-stefanova syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 1342
NM_015354.3(NUP188):c.3144C>G (p.Tyr1048Ter)Pathogenic
Sandestig-stefanova syndrome|NUP188-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 1048
NM_015354.3(NUP188):c.2573dup (p.Tyr858Ter)Likely pathogenic
NUP188-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 858
NM_015354.3(NUP188):c.904_907del (p.Ile302fs)Pathogenic
Sandestig-stefanova syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 302
NM_015354.3(NUP188):c.4078C>T (p.Gln1360Ter)Pathogenic
Sandestig-stefanova syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 1360
NM_015354.3(NUP188):c.1890G>A (p.Trp630Ter)Pathogenic
Sandestig-stefanova syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 630
NM_015354.3(NUP188):c.5032dup (p.Arg1678fs)Pathogenic
Sandestig-stefanova syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 1678
View on ClinVar β†—
Related Genes
POM121Shared pathway100%NDC1Protein interaction99%SEH1LProtein interaction99%NUP35Protein interaction99%RANGAP1Protein interaction99%GLE1Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
83%
Lung
70%
Ovary
49%
Heart
47%
Liver
37%
Gene Interaction Network
Click a node to explore
NUP188POM121NDC1SEH1LNUP35RANGAP1GLE1
PROTEIN STRUCTURE
Preparing viewer…
PDB7R5K Β· 12.00 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.54Moderately Constrained
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.45 [0.37–0.54]
RankingsWhere NUP188 stands among ~20K protein-coding genes
  • #4,411of 20,598
    Most Researched108 Β· top quartile
  • #2,280of 5,498
    Most Pathogenic Variants18
  • #3,401of 17,882
    Most Constrained (LOEUF)0.54 Β· top quartile
Genes detectedNUP188
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Non-classical functions of nuclear pore proteins in ciliopathy.
PMID: 37908226
Front Mol Biosci Β· 2023
1.00
2
The value of nucleoporin 188 in diagnosis, prognosis and immunoregulation: from pan-cancer analysis to gastric cancer verification.
PMID: 40861463
Front Immunol Β· 2025
0.90
3
Differential turnover of Nup188 controls its levels at centrosomes and role in centriole duplication.
PMID: 32211895
J Cell Biol Β· 2020
0.80
4
Nucleoporin 188 as a Predictive Biomarker of Poor Prognosis in Muscle-invasive Bladder Cancer.
PMID: 40750438
Anticancer Res Β· 2025
0.70
5
Gene network profiling in muscle-invasive bladder cancer: A systematic review and meta-analysis.
PMID: 35039218
Urol Oncol Β· 2022
0.60