FBXO11 Chromosome 2
F-box protein 11
Upload your DNA to see your personal genotypes for variants in FBXO11.
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 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. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]
Gene Info
Gene Group
"F-boxes other|Ubiquitin protein ligase E3 component n-recognins"
Locus Type
gene with protein product
Location
2p16.3
Ensembl
ENSG00000138081
Associated Conditions (11)
Inborn genetic diseases
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
Developmental disorder
Neurodevelopmental disorder
Intellectual disability
FBXO11-related disorder
Obesity
Delayed speech and language development
See cases
Gastric cancer
Marfanoid habitus and intellectual disability
Key Variants
RS1003713657
Conflicting classifications of pathogenicity
Health Risk
RS1037057182
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS112661514
Conflicting classifications of pathogenicity
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
Health Risk
RS1257345739
Conflicting classifications of pathogenicity
Health Risk
RS1284695050
Conflicting classifications of pathogenicity
Health Risk
RS1371560435
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1371955576
Conflicting classifications of pathogenicity
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
Health Risk
RS138499176
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1412913967
Conflicting classifications of pathogenicity
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
Health Risk
RS144063499
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144224179
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1478658114
Conflicting classifications of pathogenicity
Developmental disorder, Developmental disorder
Health Risk
All Variants (136)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1572764737 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS1670353845 | Health Risk | Pathogenic | — |
| RS1670354261 | Health Risk | Pathogenic | — |
| RS1670357007 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS1672424005 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS1672531686 | Health Risk | Pathogenic | — |
| RS2104610531 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104613193 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104613345 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104613365 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104621655 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104626104 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104632978 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104703623 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104716005 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104731734 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104738808 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104738949 | Health Risk | Pathogenic | — |
| RS2104807681 | Health Risk | Pathogenic | — |
| RS2104832291 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104833077 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104856110 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104856413 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2530936412 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2530936478 | Health Risk | Pathogenic | — |
| RS2530963146 | Health Risk | Pathogenic | — |
| RS2530973442 | Health Risk | Pathogenic | — |
| RS2531223667 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2531259501 | Health Risk | Pathogenic | — |
| RS1233367010 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS1553334863 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Neurodevelopmental disorder, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS1553334874 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Neurodevelopmental disorder, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS1553338592 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Neurodevelopmental disorder, Gastric cancer |
| RS1553342109 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Neurodevelopmental disorder, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS1572806589 | Health Risk | Pathogenic/Likely pathogenic | Marfanoid habitus and intellectual disability, Neurodevelopmental disorder, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2104657995 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |