Gene Gene information from NCBI Gene database.
Entrez ID 494188
Gene name F-box protein 47
Gene symbol FBXO47
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q12|17q12
miRNA miRNA information provided by mirtarbase database.
271
miRTarBase ID miRNA Experiments Reference
MIRT613840 hsa-miR-1305 HITS-CLIP 19536157
MIRT613839 hsa-miR-335-3p HITS-CLIP 19536157
MIRT639303 hsa-miR-5571-5p HITS-CLIP 23824327
MIRT631466 hsa-miR-4661-5p HITS-CLIP 23824327
MIRT631465 hsa-miR-4722-3p HITS-CLIP 23824327
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609498 31969 ENSG00000204952
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5MNV8
Protein name F-box only protein 47
Protein function Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00646 F-box 43 80 F-box domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in kidney, liver and pancreas. Down-regulated in tumors. {ECO:0000269|PubMed:15723337}.
Sequence
MASRINTNFTLIPNQKLRRSNRQTSCYSKTLGSGFQPISTFGNFKALPLEIFQIILKYLS
VKDISMLSMVSKTVSQHIIN
YISTSSGSKRLLLQDFHNLELPDRRQDSAILEHYRSLGLL
FKRCTLLLPTKERLKYIHKILTEVSCFKFNGCAAPMQCLGLTCYGMFLQTLTAGWDELEC
HRVYNFLCELTNLCRKIQMAVCSKPGSAQKLELRIRLFCRNVLLDHWTHRSDSAFWLTRI
LKPWPMVNQARLLYIIFGPISPQDGQVVWQEMIEEPTDEFSLKGLADAIKLLYDASTKEW
TADDVISLVDELSVVPREWLLENNARLLMLSGNNICFSFMASKAVNGRTIELARLVVFLA
LVCEKELYCMDWTVKMMQKVCKVFSTPVERKNFLQNVANAFACVIMEMLQSIMSGDRDED
DRSFLNLFHLVHAQANFHKEVLYLTMNTPLST
Sequence length 452
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FBXO47-related disorder Likely benign; Benign rs187260473, rs140430888, rs138301038, rs148926547 RCV003912266
RCV003909741
RCV003931566
RCV003944431
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Associate 37304650
Multiple System Atrophy Associate 27629089