FBXO11 F-box protein 11
Gene ID: 80204, updated on 12-Sep-2024Gene type: protein coding
Also known as: UBR6; VIT1; FBX11; PRMT9; IDDFBA; UG063H01
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- Go to complete Gene record for FBXO11
- Go to Variation Viewer for FBXO11 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
A comprehensive family-based replication study of schizophrenia genes. GeneReviews: Not available | |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | See labs |
Genomic context
- Location:
- 2p16.3
- Sequence:
- Chromosome: 2; NC_000002.12 (47806920..47906498, complement)
- Total number of exons:
- 26
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for FBXO11 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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