FBXL22: F-Box and Leucine Rich Repeat Protein 22
A substrate recognition component of the SCF ubiquitin ligase complex with emerging roles in cellular regulation.
Gene Information Card
| Symbol | FBXL22 |
|---|---|
| Full Name | F-box and leucine rich repeat protein 22 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 283807 ncbi.nlm.nih.gov/gene/283807 |
| Ensembl ID | ENSG00000188984 |
| UniProt ID | Q8N5M4 |
| OMIM ID | 615178 |
| HGNC ID | 28491 |
| Aliases | F-box protein 22, FBL22 |
Description
FBXL22 encodes a member of the F-box protein family, characterized by an F-box domain and leucine-rich repeats (LRRs). F-box proteins are substrate recognition components of the SCF (SKP1-CUL1-F-box) ubiquitin ligase complex, which targets proteins for ubiquitination and subsequent proteasomal degradation. FBXL22 is involved in cell cycle regulation and may play a role in cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.8 | Low |
| Spleen | 3.2 | Low |
| Lymph node | 2.9 | Low |
| Bone marrow | 2.5 | Low |
| Other tissues | <2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 1.2 | Low expression |
| HeLa | 0.8 | Very low |
| K562 | 0.5 | Very low |
| HepG2 | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants curated | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • ubiquitin-protein transferase activity (GO:0004842) |
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• SCF complex assembly
Protein Summary
FBXL22 is a 422-amino acid protein containing an N-terminal F-box domain (required for interaction with SKP1) and C-terminal leucine-rich repeats (LRRs) that mediate substrate binding. It is a component of the SCF ubiquitin ligase complex, targeting specific proteins for ubiquitination and degradation. Expression is low in most tissues, with highest levels in testis and lymphoid tissues. No disease-causing mutations have been reported.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXL22 Knockout HEK293 Cell Line | EDJ-KQ13459 | Human | 283807 | Details Get a Quote |
| FBXL22 Knockout HeLa Cell Line | EDJ-KQ59413 | Human | 283807 | Details Get a Quote |
| FBXL22 Knockout A-549 Cell Line | EDJ-KQ67881 | Human | 283807 | Details Get a Quote |
| FBXL22 Knockout HCT 116 Cell Line | EDJ-KQ76261 | Human | 283807 | Details Get a Quote |
