NUP214: Nuclear Pore Complex Protein and Leukemia-Associated Oncogene
Comprehensive genomic and clinical resource for NUP214 (nucleoporin 214), a key component of the nuclear pore complex implicated in acute leukemias and other malignancies.
Gene Information Card
| Symbol | NUP214 |
|---|---|
| Full Name | Nucleoporin 214 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 8021 ncbi.nlm.nih.gov/gene/8021 |
| Ensembl ID | ENSG00000126883 |
| UniProt ID | P35658 |
| OMIM ID | 114350 |
| HGNC ID | 8064 |
| Aliases | CAIN, CAN, N214, nucleoporin 214kDa, p250 |
Description
NUP214 (nucleoporin 214) encodes a 214 kDa protein that is a component of the nuclear pore complex (NPC). It is localized to the cytoplasmic face of the nuclear envelope and is involved in nucleocytoplasmic transport. NUP214 is frequently rearranged in acute leukemias through chromosomal translocations that generate fusion oncoproteins, such as DEK-NUP214, SET-NUP214, and NUP214-ABL1. These fusions disrupt normal nuclear transport and contribute to leukemogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia (AML) | DEK-NUP214 fusion (t(6;9)(p23;q34)) disrupts nuclear transport and alters gene expression; SET-NUP214 fusion (t(9;9)(q34;q34)) leads to similar oncogenic mechanisms. | PMID: 10655551, COSMIC analysis |
| T-cell acute lymphoblastic leukemia (T-ALL) | NUP214-ABL1 fusion (episomal amplification) results in constitutive ABL1 kinase activation, driving proliferation. | PMID: 15361868, ClinVar |
| Acute undifferentiated leukemia | SET-NUP214 fusion (t(9;9)(q34;q34)) associated with poor prognosis. | PMID: 10655551 |
| Myelodysplastic syndrome (MDS) | DEK-NUP214 fusion reported in rare cases of MDS with progression to AML. | PMID: 17053057 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Spleen | 9.2 | Medium |
| Testis | 8.1 | Medium |
| Brain | 6.4 | Low |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression; used in fusion studies |
| HEK293 (embryonic kidney) | 10.1 | Moderate expression |
| HeLa (cervical carcinoma) | 9.8 | Moderate expression |
| Jurkat (T-cell leukemia) | 12.0 | High expression; relevant for T-ALL |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| DEK-NUP214 fusion | Chromosomal translocation t(6;9)(p23;q34) | ~1% of AML cases | Oncogenic fusion protein disrupts nuclear transport and promotes leukemogenesis |
| SET-NUP214 fusion | Chromosomal translocation t(9;9)(q34;q34) | <1% of AML cases | Oncogenic fusion; alters gene expression and cell cycle |
| NUP214-ABL1 fusion | Episomal amplification | ~6% of T-ALL cases | Constitutive ABL1 kinase activation; targetable with tyrosine kinase inhibitors |
| NUP214 truncating mutations | Nonsense/frameshift | Rare | Loss of C-terminal domain; potential loss of function in nuclear transport |
Mutation functional classification
Loss of Function (LOF)
Truncating mutations (nonsense/frameshift) that remove the C-terminal domain may impair NPC assembly or transport, but are rare and not fully characterized.
Gain of Function (GOF)
NUP214-ABL1 fusion results in constitutive ABL1 kinase activity, a classic gain-of-function oncogenic mechanism. DEK-NUP214 and SET-NUP214 fusions are also considered gain-of-function due to aberrant transcriptional and transport activities.
Dominant Negative (DN)
DEK-NUP214 fusion may act in a dominant-negative manner by sequestering other NPC components, disrupting normal nuclear transport.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nuclear Pore Complex (NPC) assembly and transport
• DEK-NUP214 fusion in AML
• SET-NUP214 fusion in AML
• NUP214-ABL1 signaling in T-ALL
• Nucleocytoplasmic transport
Protein Summary
NUP214 (nucleoporin 214) is a 214 kDa protein located on the cytoplasmic side of the nuclear pore complex. It contains multiple FG repeats and interacts with other nucleoporins to regulate nucleocytoplasmic transport. In cancer, chromosomal translocations involving NUP214 generate fusion proteins (DEK-NUP214, SET-NUP214, NUP214-ABL1) that drive leukemogenesis. NUP214-ABL1 fusions are particularly notable in T-ALL and are targetable by ABL1 kinase inhibitors such as imatinib.
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