FBXO7 Chromosome 22
F-box protein 7
Upload your DNA to see your personal genotypes for variants in FBXO7.
What This Gene Does
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
F-boxes other
Locus Type
gene with protein product
Location
22q12.3
Ensembl
ENSG00000100225
Associated Conditions (5)
Parkinsonian-pyramidal syndrome
Inborn genetic diseases
FBXO7-related disorder
Clear cell carcinoma of kidney
Glioma susceptibility 1
Key Variants
RS1012166328
Conflicting classifications of pathogenicity
Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
Health Risk
RS111604607
Conflicting classifications of pathogenicity
Inborn genetic diseases, Parkinsonian-pyramidal syndrome, Inborn genetic diseases
Health Risk
RS142471722
Conflicting classifications of pathogenicity
Parkinsonian-pyramidal syndrome, Inborn genetic diseases, Parkinsonian-pyramidal syndrome
Health Risk
RS143041875
Conflicting classifications of pathogenicity
Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
Health Risk
RS148272407
Conflicting classifications of pathogenicity
Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
Health Risk
RS192327462
Conflicting classifications of pathogenicity
Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
Health Risk
RS199954341
Conflicting classifications of pathogenicity
Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
Health Risk
RS34316445
Conflicting classifications of pathogenicity
Parkinsonian-pyramidal syndrome, FBXO7-related disorder, Parkinsonian-pyramidal syndrome
Health Risk
RS61752254
Conflicting classifications of pathogenicity
Parkinsonian-pyramidal syndrome, FBXO7-related disorder, Parkinsonian-pyramidal syndrome
Health Risk
RS758609287
Conflicting classifications of pathogenicity
Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
Health Risk
RS765344006
Conflicting classifications of pathogenicity
Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
Health Risk
RS2146009225
Likely pathogenic
Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1012166328 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS111604607 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Parkinsonian-pyramidal syndrome, Inborn genetic diseases |
| RS142471722 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonian-pyramidal syndrome, Inborn genetic diseases, Parkinsonian-pyramidal syndrome |
| RS143041875 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS148272407 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS192327462 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS199954341 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS34316445 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonian-pyramidal syndrome, FBXO7-related disorder, Parkinsonian-pyramidal syndrome |
| RS61752254 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonian-pyramidal syndrome, FBXO7-related disorder, Parkinsonian-pyramidal syndrome |
| RS758609287 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS765344006 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS2146009225 | Health Risk | Likely pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS2544658938 | Health Risk | Likely pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS2544671633 | Health Risk | Likely pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS762209257 | Health Risk | Likely pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome, Clear cell carcinoma of kidney |
| RS1157030138 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS121918304 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS1228608709 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS1273648145 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS1275677869 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS1327023585 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS1342038737 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS1431512432 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS1568977722 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS2057448454 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS2057531939 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS2057587604 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS2057587984 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS2544659214 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS2544659247 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS2544672059 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS376455464 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS71799110 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS730880272 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS750398883 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS753392528 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS778770873 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS779737534 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS945794813 | Health Risk | Pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS121918305 | Health Risk | Pathogenic/Likely pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS1290655316 | Health Risk | Pathogenic/Likely pathogenic | Parkinsonian-pyramidal syndrome, FBXO7-related disorder, Parkinsonian-pyramidal syndrome |
| RS1344213916 | Health Risk | Pathogenic/Likely pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS1370252127 | Health Risk | Pathogenic/Likely pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS151103559 | Health Risk | Pathogenic/Likely pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS2057490468 | Health Risk | Pathogenic/Likely pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS2544665272 | Health Risk | Pathogenic/Likely pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS369105683 | Health Risk | Pathogenic/Likely pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS749019340 | Health Risk | Pathogenic/Likely pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS749534144 | Health Risk | Pathogenic/Likely pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |
| RS78099169 | Health Risk | Pathogenic/Likely pathogenic | Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome |