XPO7: Exportin 7 – A Key Nuclear Export Receptor
Comprehensive genomic and proteomic overview of XPO7, including its role in nucleocytoplasmic transport, associated diseases, expression, and mutations.
Gene Information Card
| Symbol | XPO7 |
|---|---|
| Full Name | Exportin 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 23064 ncbi.nlm.nih.gov/gene/23064 |
| Ensembl ID | ENSG00000130294 |
| UniProt ID | Q9UIA9 |
| OMIM ID | 610966 |
| HGNC ID | 23713 |
| Aliases | EXP7, KIAA0745, RANBP16 |
Description
XPO7 (Exportin 7) encodes a member of the importin beta family of nuclear transport receptors. It mediates the nuclear export of proteins and RNAs, particularly those containing leucine-rich nuclear export signals (NES). XPO7 interacts with RAN GTPase to regulate cargo release. The gene is located on chromosome 8p21.3 and is expressed in multiple tissues. Alterations in XPO7 have been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Disrupted nuclear export of key neuronal proteins | ClinVar: pathogenic variants reported |
| Colorectal cancer | Overexpression may alter nuclear transport of tumor suppressors | COSMIC: somatic mutations observed |
| Lung adenocarcinoma | Potential role in cell cycle regulation via export of cyclins | COSMIC: missense mutations identified |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Low |
| Liver | 5.3 | Low |
| Kidney | 7.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | High expression |
| HeLa | 8.9 | Moderate expression |
| A549 | 7.4 | Moderate expression |
| HepG2 | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2143C>T (p.Arg715Trp) | Missense | <0.01 | Altered NES binding affinity |
| c.2870A>G (p.Asn957Ser) | Missense | <0.01 | Potential loss of RAN interaction |
| c.1234delC | Frameshift | <0.001 | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the RAN-binding domain lead to impaired nuclear export.
Gain of Function (GOF)
Not well documented; some missense variants may enhance export activity but require further study.
Dominant Negative (DN)
Missense mutations in the NES-binding region may produce a dominant-negative effect by sequestering RAN or cargo.
View complete mutation data：
Gene Ontology (GO)
| • nuclear export signal receptor activity | • protein transport |
| • nucleocytoplasmic transport | • intracellular protein transport |
| • RAN GTPase binding |
Pathways
• Nuclear export of proteins (RAN GTPase cycle)
• Transport of mature mRNA via nuclear pores
Protein Summary
Exportin 7 (XPO7) is a 120 kDa nuclear transport receptor belonging to the importin beta family. It recognizes leucine-rich nuclear export signals (NES) on cargo proteins and facilitates their translocation through the nuclear pore complex in a RAN-GTP-dependent manner. The protein contains HEAT repeats that form a superhelical structure for cargo binding. XPO7 is ubiquitously expressed with higher levels in testis and brain. Dysregulation of XPO7 is linked to cancer and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| XPO7 Knockout HEK293 Cell Line | EDJ-KQ7784 | Human | 23039 | Details Get a Quote |
| XPO7 Knockout A-549 Cell Line | EDJ-KQ33271 | Human | 23039 | Details Get a Quote |
| XPO7 Knockout HCT 116 Cell Line | EDJ-KQ33272 | Human | 23039 | Details Get a Quote |
| XPO7 Knockout HeLa Cell Line | EDJ-KQ33273 | Human | 23039 | Details Get a Quote |
