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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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XPO4
exportin 4
Chromosome 13 · 13q12.11
NCBI Gene: 64328Ensembl: ENSG00000132953.19HGNC: HGNC:17796UniProt: Q0VG75
64PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nuclear export signal receptor activityprotein bindingsmall GTPase bindingprotein export from nucleusneurodegenerative diseaseUveal Melanomabone remodeling diseasemathematical ability
✦AI Summary

XPO4 (exportin 4) is a nuclear export receptor that mediates the cytoplasmic transport of multiple cargo proteins. XPO4 functions by binding cooperatively in the nucleus to cargo proteins—including EIF5A, SMAD3, and PKM2 isoform M2—and to active Ran-GTP, forming a trimeric complex that docks at nuclear pore complexes through nucleoporin interactions 12. Upon cytoplasmic transit, Ran-GTP hydrolysis to Ran-GDP causes complex disassembly and cargo release, allowing XPO4 recycling for subsequent export rounds 12. Structurally, XPO4 recognizes the hypusinated amino acid on EIF5A through a deep acidic pocket, enabling cargo-specific recognition 3. Clinically, XPO4 dysfunction is implicated in liver disease pathogenesis. Decreased XPO4 expression correlates with poor hepatocellular carcinoma (HCC) prognosis and serves as an independent survival predictor 4. XPO4 promoter hypermethylation suppresses transcription during HBV-induced HCC progression and liver fibrosis development 56. XPO4 copy number duplications increase non-alcoholic fatty liver disease (NAFLD) and nonalcoholic steatohepatitis (NASH) risk, with reduced serum XPO4 levels correlating to disease severity 78. Mechanistically in fibrosis, reduced XPO4 sustains SMAD3 nuclear accumulation, promoting fibroblast activation via TGF-β signaling 8. Additionally, XPO4 knockout modulates enzalutamide response in castration-resistant prostate cancer 9, suggesting broader therapeutic relevance beyond hepatic diseases.

Sources cited
1
Structurally, XPO4 recognizes the hypusinated amino acid on EIF5A through a deep acidic pocket, enabling cargo-specific recognition .
PMID: 27306458
2
Decreased XPO4 expression correlates with poor hepatocellular carcinoma (HCC) prognosis and serves as an independent survival predictor .
PMID: 21332550
3
XPO4 copy number duplications increase non-alcoholic fatty liver disease (NAFLD) and nonalcoholic steatohepatitis (NASH) risk, with reduced serum XPO4 levels correlating to disease severity , .
PMID: 34388518
4
Additionally, XPO4 knockout modulates enzalutamide response in castration-resistant prostate cancer , suggesting broader therapeutic relevance beyond hepatic diseases.
PMID: 37270558
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
Uveal MelanomaOpen Targets
0.30Weak
bone remodeling diseaseOpen Targets
0.23Weak
mathematical abilityOpen Targets
0.18Weak
parasitic infectionOpen Targets
0.18Weak
alcohol drinkingOpen Targets
0.17Weak
intelligenceOpen Targets
0.13Weak
hypertensionOpen Targets
0.12Weak
azoospermiaOpen Targets
0.07Suggestive
microphthalmiaOpen Targets
0.07Suggestive
Isolated anophthalmia - microphthalmiaOpen Targets
0.07Suggestive
age-related macular degenerationOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
nanophthalmiaOpen Targets
0.06Suggestive
hereditary angioedemaOpen Targets
0.06Suggestive
Milroy diseaseOpen Targets
0.06Suggestive
primary ovarian insufficiencyOpen Targets
0.06Suggestive
lymphatic malformation 11Open Targets
0.06Suggestive
premature ovarian failure 12Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
XPOTProtein interaction98%XPO1Protein interaction90%EIF5AProtein interaction90%THOC2Protein interaction85%EIF5AL1Protein interaction85%RANGAP1Protein interaction84%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
91%
Ovary
46%
Lung
43%
Brain
37%
Liver
31%
Gene Interaction Network
Click a node to explore
XPO4XPOTXPO1EIF5ATHOC2EIF5AL1RANGAP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q0VG75
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.36Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.28 [0.21–0.36]
RankingsWhere XPO4 stands among ~20K protein-coding genes
  • #7,334of 20,598
    Most Researched64
  • #1,638of 17,882
    Most Constrained (LOEUF)0.36 · top 10%
Genes detectedXPO4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Exportin 4 DNA promoter methylation in liver fibrosis.
PMID: 38722973
PLoS One · 2024
1.00
2
Copy number variation in exportin-4 (XPO4) gene and its association with histological severity of non-alcoholic fatty liver disease.
PMID: 26293807
Sci Rep · 2015
0.90
3
Investigation of enzalutamide, docetaxel, and cabazitaxel resistance in the castration resistant prostate cancer cell line C4 using genome-wide CRISPR/Cas9 screening.
PMID: 37270558
Sci Rep · 2023
0.80
4
Structure of the exportin Xpo4 in complex with RanGTP and the hypusine-containing translation factor eIF5A.
PMID: 27306458
Nat Commun · 2016
0.70
5
Exportin 4 gene expression and DNA promoter methylation status in chronic hepatitis B virus infection.
PMID: 24597692
J Viral Hepat · 2014
0.60