CSE1L: Chromosome Segregation 1 Like (Exportin-2)
A key nuclear transport receptor involved in cell cycle control, apoptosis, and cancer progression.
Gene Information Card
| Symbol | CSE1L |
|---|---|
| Full Name | Chromosome Segregation 1 Like (Exportin-2) |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 1434 ncbi.nlm.nih.gov/gene/1434 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | P55060 |
| OMIM ID | 603170 |
| HGNC ID | 2430 |
| Aliases | CSE1, CAS, XPO2, exportin-2 |
Description
CSE1L (Chromosome Segregation 1 Like) encodes exportin-2, a nuclear transport receptor that mediates the export of importin-α from the nucleus to the cytoplasm. This recycling step is essential for nuclear import of proteins containing classical nuclear localization signals (NLS). CSE1L also plays roles in cell cycle progression, apoptosis, and chromosome segregation. Overexpression is observed in multiple cancers and is associated with poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of CSE1L promotes cell proliferation and invasion; associated with poor prognosis. | PMID: 21532981 |
| Colorectal cancer | Upregulation correlates with tumor stage and metastasis; may regulate apoptosis via importin-α. | PMID: 19029987 |
| Lung cancer | High CSE1L expression linked to aggressive tumor behavior and shorter survival. | PMID: 23446967 |
| Ovarian cancer | Increased expression associated with chemoresistance and poor outcome. | PMID: 22492982 |
| Hepatocellular carcinoma | CSE1L overexpression promotes cell cycle progression and inhibits apoptosis. | PMID: 25634884 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Testis | 8.1 | Medium |
| Thyroid | 7.5 | Medium |
| Liver | 6.3 | Low |
| Lung | 5.9 | Low |
| Breast | 5.4 | Low |
| Colon | 4.8 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | High expression |
| HeLa | 12.8 | High expression |
| MCF7 | 11.5 | High expression |
| A549 | 10.1 | Medium expression |
| HepG2 | 9.3 | Medium expression |
| K562 | 8.7 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | <0.1% (COSMIC) | Unknown functional impact |
| c.567C>T (p.Arg189Trp) | Missense | <0.1% (COSMIC) | Unknown functional impact |
| c.890_891insA | Frameshift | <0.1% (COSMIC) | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.890_891insA) are predicted to cause premature truncation and loss of exportin-2 function, impairing nuclear transport.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in CSE1L.
Dominant Negative (DN)
No dominant-negative mutations described for CSE1L.
View complete mutation data：
Gene Ontology (GO)
| • protein transporter activity (GO:0008565) | • nuclear export signal receptor activity (GO:0005049) |
| • protein import into nucleus (GO:0006606) | • nucleocytoplasmic transport (GO:0006913) |
| • cell division (GO:0051301) | • cell cycle (GO:0007049) |
| • apoptotic process (GO:0006915) |
Pathways
• Nuclear import of classical NLS-containing proteins (Reactome: R-HSA-159230)
• Nuclear export of importin-alpha (Reactome: R-HSA-159231)
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
Protein Summary
Exportin-2 (CSE1L) is a 971-amino acid protein that functions as a nuclear export receptor for importin-α. It binds importin-α in the nucleus in a RanGTP-dependent manner and transports it to the cytoplasm, where the complex dissociates. This recycling step is critical for sustained nuclear import of NLS-containing proteins. CSE1L also interacts with the apoptosis regulator CAS (CSE1L itself) and is involved in chromosome segregation during mitosis. Overexpression in tumors suggests a role in oncogenesis.
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