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GeneE
25 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.
NUP214
nucleoporin 214
Chromosome 9 Β· 9q34.13
NCBI Gene: 8021Ensembl: ENSG00000126883.19HGNC: HGNC:8064UniProt: B7ZAV2
225PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneOncogeneTransporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein export from nucleuscytoplasmic side of nuclear poreregulation of nucleocytoplasmic transportfamilial acute necrotizing encephalopathyinfluenzaHIV infectionviral disease
✦AI Summary

NUP214 is a nucleoporin component of the nuclear pore complex with critical roles beyond nucleocytoplasmic transport. Beyond its canonical function in regulating nuclear protein and mRNA export 1, NUP214 participates in transcriptional regulation, cell cycle progression, and programmed cell death 2. NUP214 is frequently involved in acute leukemia through chr9 translocations that generate fusion proteins with distinct oncogenic mechanisms. SET-NUP214 fusion, associated primarily with T-cell acute lymphoblastic leukemia, inhibits the nuclear export receptor CRM1, causing aberrant accumulation of export cargoes in the nucleus and dysregulation of homeobox genes like HoxA10 through interaction with MLL 13. DEK-NUP214 fusion, characteristic of acute myeloid leukemia (1-2% of cases), depends on XPO1 for chr9 localization and activation of oncogenic gene signatures; XPO1 inhibition effectively reduces leukemia development in vivo 4. The NUP214-SQSTM1 fusion links this pathway to autophagy dysregulation 1. Phase separation of NUP98-NUP214 chimeras promotes aberrant chr9 looping and super-enhancer formation at proto-oncogenes, establishing a mechanistic link between NUP214 translocations and oncogenic transcriptional control 5. SET-NUP214 and DEK-NUP214 fusion genes correlate with poor prognosis and chemotherapy resistance, with improved outcomes following allogeneic stem cell transplantation 6. NUP214 translocations represent critical drivers of hematologic malignancy with potential therapeutic targets including XPO1 inhibition.

Sources cited
1
NUP214 (and NUP98) translocations generate chimeras that undergo liquid-liquid phase separation to promote aberrant chromatin looping and oncogenic transcription at proto-oncogenes
PMID: 34163069
2
SET-CAN/NUP214 fusion gene is found in T-ALL, B-ALL, and AML with poor prognosis and chemotherapy insensitivity; transplantation improves outcomes
PMID: 35905214
3
NUP214 is involved in nucleocytoplasmic transport, transcription/translation regulation, cell cycle progression, and programmed cell death; multiple NUP214 translocations occur in AML with varying prognosis
PMID: 41002427
4
SET-NUP214 fusion interacts with MLL to cooperatively enhance HoxA10 promoter activity in T-ALL
PMID: 34320268
5
NUP214 fusion proteins disrupt nuclear export by inhibiting CRM1, causing aberrant accumulation of export cargoes; SET-NUP214 associates with ALL while DEK-NUP214 causes AML
PMID: 30669574
6
DEK-NUP214 AML is dependent on XPO1 for chromatin co-localization and oncogenic gene activation; XPO1 inhibition successfully treats DEK-NUP214 leukemia in vivo
PMID: 40148556
Disease Associationsβ“˜21
familial acute necrotizing encephalopathyOpen Targets
0.66Moderate
influenzaOpen Targets
0.54Moderate
HIV infectionOpen Targets
0.54Moderate
viral diseaseOpen Targets
0.53Moderate
developmental disabilityOpen Targets
0.43Moderate
T-cell acute lymphoblastic leukemiaOpen Targets
0.41Moderate
microcephalyOpen Targets
0.37Weak
chronic myelomonocytic leukemiaOpen Targets
0.37Weak
COVID-19Open Targets
0.37Weak
Developmental regressionOpen Targets
0.37Weak
Epileptic encephalopathyOpen Targets
0.37Weak
HistiocytosisOpen Targets
0.37Weak
Intellectual disabilityOpen Targets
0.37Weak
myeloproliferative disorderOpen Targets
0.37Weak
T-lymphoblastic lymphomaOpen Targets
0.37Weak
acute myeloid leukemiaOpen Targets
0.33Weak
acute lymphoblastic leukemiaOpen Targets
0.33Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.28Weak
liver diseaseOpen Targets
0.28Weak
acute leukemia of ambiguous lineageOpen Targets
0.28Weak
Encephalopathy, acute, infection-induced, 9UniProt
Pathogenic Variants10
NM_005085.4(NUP214):c.1574del (p.Pro525fs)Pathogenic
Encephalopathy, acute, infection-induced, susceptibility to, 9|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 525
NM_005085.4(NUP214):c.112C>T (p.Arg38Cys)Pathogenic
Recurrent encephalopathy;Progressive microcephaly|Encephalopathy, acute, infection-induced, susceptibility to, 9
β˜…β˜…β˜†β˜†2022β†’ Residue 38
NM_005085.4(NUP214):c.5472del (p.Ala1825fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1825
NM_005085.4(NUP214):c.1159C>T (p.Pro387Ser)Likely pathogenic
Encephalopathy, acute, infection-induced, susceptibility to, 9|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 387
NM_005085.4(NUP214):c.2939_2943dup (p.Asp982fs)Pathogenic
NUP14 Related Disorders
β˜…β˜†β˜†β˜†2024β†’ Residue 982
NM_005085.4(NUP214):c.1926dup (p.Val643fs)Pathogenic
NUP14 Related Disorders
β˜…β˜†β˜†β˜†2024β†’ Residue 643
NM_005085.4(NUP214):c.929T>C (p.Ile310Thr)Likely pathogenic
Encephalopathy, acute, infection-induced, susceptibility to, 9
β˜…β˜†β˜†β˜†2023β†’ Residue 310
NM_005085.4(NUP214):c.4828G>T (p.Glu1610Ter)Likely pathogenic
NUP214-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 1610
NM_005085.4(NUP214):c.5773_5774del (p.Ser1925fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 1925
NM_005085.4(NUP214):c.5521+10delLikely pathogenic
Congenital anomaly of face;Growth delay;Developmental delay
β˜†β˜†β˜†β˜†2017
View on ClinVar β†—
Related Genes
KPNB1Protein interaction100%NCOA5Protein interaction100%SNUPNProtein interaction100%NDC1Protein interaction99%SEH1LProtein interaction99%GLE1Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
84%
Ovary
69%
Lung
66%
Liver
57%
Heart
55%
Gene Interaction Network
Click a node to explore
NUP214KPNB1NCOA5SNUPNNDC1SEH1LGLE1
PROTEIN STRUCTURE
Preparing viewer…
PDB2OIT Β· 1.65 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.46Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.37 [0.30–0.46]
RankingsWhere NUP214 stands among ~20K protein-coding genes
  • #1,810of 20,598
    Most Researched225 Β· top 10%
  • #2,828of 5,498
    Most Pathogenic Variants10
  • #2,567of 17,882
    Most Constrained (LOEUF)0.46 Β· top quartile
Genes detectedNUP214
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Phase separation drives aberrant chromatin looping and cancer development.
PMID: 34163069
Nature Β· 2021
1.00
2
The characteristics and prognostic significance of the SET-CAN/NUP214 fusion gene in hematological malignancies: A systematic review.
PMID: 35905214
Medicine (Baltimore) Β· 2022
0.90
3
NUP214 in Acute Myeloid Leukemia.
PMID: 41002427
Cells Β· 2025
0.80
4
SET-NUP214 and MLL cooperatively regulate the promoter activity of the HoxA10 gene.
PMID: 34320268
Genes Cells Β· 2021
0.70
5
Nucleoporins nup98 and nup214 participate in nuclear export of human immunodeficiency virus type 1 Rev.
PMID: 9847314
J Virol Β· 1999
0.64