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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FBXL22
F-box and leucine rich repeat protein 22
Chromosome 15 · 15q22.31
NCBI Gene: 283807Ensembl: ENSG00000197361.8HGNC: HGNC:27537UniProt: H0YMQ4
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
proteasome-mediated ubiquitin-dependent protein catabolic processprotein bindingubiquitin protein ligase activitySCF-dependent proteasomal ubiquitin-dependent protein catabolic processAlzheimer diseasedementianeurodegenerative diseasetype 2 diabetes mellitus
✦AI Summary

FBXL22 is a cardiac-enriched F-box protein that functions as a substrate recognition component of SCF-type E3 ubiquitin ligase complexes 1. It localizes to the sarcomeric z-disc and promotes proteasome-dependent ubiquitination and degradation of key sarcomeric proteins, including α-actinin-2 and filamin-C 1. FBXL22 plays dual roles in muscle: it is essential for maintaining normal cardiac contractile function through regulated turnover of sarcomeric proteins 1, yet also functions as a muscle atrophy-promoting ligase during neurogenic muscle atrophy 2. In vivo overexpression induces myopathy and atrophy, while knockdown protects against denervation-induced muscle loss 2. During cardiac regeneration, FBXL22 expression is regulated by AP-1 transcription factors and promotes sarcomere disassembly to facilitate cardiomyocyte dedifferentiation and proliferation 3. Beyond cardiac and skeletal muscle, FBXL22 has emerged as a disease-associated gene: hypomethylation of FBXL22 is associated with increased relapse risk in pediatric B-ALL 4, and rare variants are associated with triple-negative breast cancer risk in African American women 5. FBXL22 was also identified as a shared biomarker in osteoporosis and sarcopenia 6.

Sources cited
1
FBXL22 is a cardiac-enriched F-box protein localized to the sarcomeric z-disc that functions as a component of SCF E3 ligase complexes and promotes proteasome-dependent degradation of α-actinin and filamin-C, essential for maintenance of cardiac contractile function
PMID: 22972877
2
FBXL22 functions as a skeletal muscle atrophy-promoting E3 ubiquitin ligase; overexpression induces myopathy/atrophy while knockdown provides additive protection against denervation-induced muscle loss
PMID: 32783651
3
FBXL22 expression is regulated by AP-1 transcription factors during zebrafish cardiac regeneration and promotes sarcomere disassembly necessary for cardiomyocyte dedifferentiation and proliferation
PMID: 32312172
4
FBXL22 hypomethylation (cg01767116) is significantly associated with increased relapse risk in pediatric B-cell acute lymphoblastic leukemia
PMID: 41226303
5
FBXL22 rare variants are significantly associated with triple-negative breast cancer risk in African American women
PMID: 27267999
6
FBXL22 was identified as one of five key genes shared between osteoporosis and sarcopenia through machine learning analysis
PMID: 41534648
7
FBXL22 was identified as a candidate disease gene in a diagnostic NGS study of Mendelian phenotypes but was not previously linked to human disease phenotypes
PMID: 28600779
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.40Moderate
dementiaOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.30Weak
type 2 diabetes mellitusOpen Targets
0.28Weak
atrial fibrillationOpen Targets
0.17Weak
major depressive disorderOpen Targets
0.14Weak
diabetes mellitusOpen Targets
0.14Weak
denturesOpen Targets
0.14Weak
breast cancerOpen Targets
0.13Weak
Hashimoto's thyroiditisOpen Targets
0.13Weak
coronary atherosclerosisOpen Targets
0.13Weak
metabolic syndromeOpen Targets
0.13Weak
smoking initiationOpen Targets
0.10Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.09Suggestive
ovarian dysfunctionOpen Targets
0.09Suggestive
autoimmune diseaseOpen Targets
0.08Suggestive
attention deficit hyperactivity disorderOpen Targets
0.08Suggestive
substance abuseOpen Targets
0.08Suggestive
Blount diseaseOpen Targets
0.07Suggestive
tibia, hypoplasia or aplasia of, with polydactylyOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CUL1Protein interaction100%FBXL19Shared pathway67%FBXO28Shared pathway67%FBXO9Shared pathway50%FBXO48Shared pathway50%FBXO47Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Ovary
14%
Brain
4%
Lung
3%
Liver
2%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
FBXL22CUL1FBXL19FBXO28FBXO9FBXO48FBXO47
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6P050
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.74LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.11 [0.71–1.74]
RankingsWhere FBXL22 stands among ~20K protein-coding genes
  • #15,557of 20,598
    Most Researched15
  • #16,275of 17,882
    Most Constrained (LOEUF)1.74
Genes detectedFBXL22
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
A circadian rhythm-related gene signature for predicting relapse risk and immunotherapeutic effect in prostate adenocarcinoma.
PMID: 36103249
Aging (Albany NY) · 2022
0.88
3
Identification and characterization of Fbxl22, a novel skeletal muscle atrophy-promoting E3 ubiquitin ligase.
PMID: 32783651
Am J Physiol Cell Physiol · 2020
0.75
4
Comprehensive Epigenome-Wide Profiling Reveals Distinctive DNA Methylation Signatures and Potential Prognostic Biomarkers in Mexican Pediatric B-ALL.
PMID: 41226303
Int J Mol Sci · 2025
0.63
5
Exploring the molecular intersections of osteoporosis and sarcopenia: An integrated bioinformatics and experimental validation.
PMID: 41534648
Exp Gerontol · 2026
0.50