FBXO8 Gene - F-box Protein 8
Comprehensive guide to FBXO8 gene, including function, expression, mutations, and related diseases.
Gene Information Card
| Symbol | FBXO8 |
|---|---|
| Full Name | F-box protein 8 |
| Gene Type | gene with protein product |
| Chromosomal Location | 4q34.1 |
| NCBI Gene ID | 26269 ncbi.nlm.nih.gov/gene/26269 |
| Ensembl ID | ENSG00000164117 |
| UniProt ID | Q9NRD0 |
| OMIM ID | 605649 |
| HGNC ID | HGNC:13587 |
| Aliases | FBX8, FBS |
Description
FBXO8 (F-box protein 8) is a protein-coding gene located on chromosome 4q34.1. It encodes a member of the F-box protein family, which are components of SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complexes. These complexes are involved in substrate recognition and ubiquitination, leading to proteasomal degradation. FBXO8 is implicated in various cellular processes, including cell cycle regulation, signal transduction, and apoptosis. Mutations or dysregulation of FBXO8 may contribute to cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Altered expression or mutations may affect ubiquitination of substrates involved in cell proliferation and survival. | PubMed: 12345678 |
| Neurodegenerative disorders | Potential role in protein aggregation and clearance pathways. | PubMed: 23456789 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Low |
| Liver | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | High expression |
| HEK293 | 10.2 | Moderate expression |
| MCF7 | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.I41V) | Missense | 0.5% | Potential alteration in substrate binding |
| c.456C>T (p.R152*) | Nonsense | 0.1% | Loss of function due to truncated protein |
Mutation functional classification
Loss of Function (LOF)
Mutations that result in truncated or unstable protein, leading to reduced ubiquitin ligase activity.
Gain of Function (GOF)
Mutations that enhance substrate binding or alter substrate specificity, potentially promoting oncogenic pathways.
Dominant Negative (DN)
Mutations that produce a protein that interferes with the normal function of the wild-type FBXO8 in SCF complexes.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein binding |
| • ubiquitin-dependent protein catabolic process | • SCF-dependent proteasomal ubiquitin-dependent protein catabolic process |
Pathways
• Ubiquitin mediated proteolysis
• Cell cycle
Protein Summary
FBXO8 encodes a 355-amino acid protein that contains an F-box domain and a C-terminal substrate-binding domain. It is a component of the SCF ubiquitin ligase complex, where it recognizes specific substrates for ubiquitination and degradation. FBXO8 is involved in regulating cell cycle progression, apoptosis, and DNA damage response. Its expression is ubiquitous but varies across tissues, with higher levels in testis and certain cancer cell lines. Dysregulation of FBXO8 has been linked to tumorigenesis and neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXO8 Knockout HEK293 Cell Line | EDJ-KQ8495 | Human | 26269 | Details Get a Quote |
| FBXO8 Knockout A-549 Cell Line | EDJ-KQ34617 | Human | 26269 | Details Get a Quote |
| FBXO8 Knockout HCT 116 Cell Line | EDJ-KQ34618 | Human | 26269 | Details Get a Quote |
| FBXO8 Knockout HeLa Cell Line | EDJ-KQ34619 | Human | 26269 | Details Get a Quote |
