XPO6 (Exportin 6)
A key mediator of nuclear export for actin and actin-related proteins, with implications in cellular signaling and cancer biology.
Gene Information Card
| Symbol | XPO6 |
|---|---|
| Full Name | Exportin 6 |
| Gene Type | Protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 23214 ncbi.nlm.nih.gov/gene/23214 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | Q96QU8 |
| OMIM ID | 609504 |
| HGNC ID | 30630 |
| Aliases | EXP6, KIAA1334, RANBP16 |
Description
XPO6 (Exportin 6) encodes a member of the importin beta family of nuclear transport receptors. The protein mediates the nuclear export of actin and actin-related proteins (Arps) in a RanGTP-dependent manner. It plays a critical role in regulating nuclear actin levels and is implicated in cellular processes such as transcription, chromatin remodeling, and cell cycle progression. XPO6 is also involved in the nuclear export of specific cargoes like profilin-actin complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered nuclear export of actin may disrupt cytoskeletal dynamics and gene expression, contributing to tumorigenesis. | COSMIC; literature |
| Neurodevelopmental disorders | Potential role via actin regulation in neuronal cells; limited direct evidence. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain (cerebellum) | 8.9 | Medium |
| Liver | 7.1 | Low |
| Heart | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.8 | High expression |
| HEK293 | 12.1 | Moderate expression |
| K562 | 9.5 | Moderate expression |
| A549 | 8.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown; predicted benign |
| c.567G>A (p.Val189Ile) | Missense | <0.01% | Unknown; predicted tolerated |
| c.2345_2346insA | Frameshift | <0.001% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense variants that truncate the protein likely impair nuclear export of actin, potentially disrupting cellular actin homeostasis.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects currently.
View complete mutation data：
Gene Ontology (GO)
| • nuclear export | • protein transport |
| • Ran GTPase binding | • cytoplasm |
| • nucleus | • actin binding |
Pathways
• Nuclear export of actin/profilin complex
• Ran GTPase cycle
• Nuclear transport
Protein Summary
Exportin 6 is a 1121-amino acid protein belonging to the importin beta family. It contains a RanGTP-binding domain and functions as a nuclear export receptor for actin and actin-related proteins. The protein shuttles between the nucleus and cytoplasm, binding cargo in the nucleus in a RanGTP-dependent manner and releasing it in the cytoplasm upon GTP hydrolysis. It is essential for maintaining nuclear actin levels and is widely expressed in human tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| XPO6 Knockout HEK293 Cell Line | EDJ-KQ7885 | Human | 23214 | Details Get a Quote |
| XPO6 Knockout A-549 Cell Line | EDJ-KQ33478 | Human | 23214 | Details Get a Quote |
| XPO6 Knockout HCT 116 Cell Line | EDJ-KQ33479 | Human | 23214 | Details Get a Quote |
| XPO6 Knockout HeLa Cell Line | EDJ-KQ33480 | Human | 23214 | Details Get a Quote |
