FBXO47 (F-box protein 47)

Gene Gene information from NCBI Gene database.
Gene miRNA Other IDs Protein Associated diseases
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
Gene miRNA Other IDs Protein Associated diseases
Show/Hide all (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.
Gene miRNA Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609498 31969 ENSG00000204952
Protein Protein information from UniProt database.
Gene miRNA Other IDs Protein Associated diseases
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
VKDISMLSMVSKTVSQHIINYISTSSGSKRLLLQDFHNLELPDRRQDSAILEHYRSLGLL
FKRCTLLLPTKERLKYIHKILTEVSCFKFNGCAAPMQCLGLTCYGMFLQTLTAGWDELEC
HRVYNFLCELTNLCRKIQMAVCSKPGSAQKLELRIRLFCRNVLLDHWTHRSDSAFWLTRI
LKPWPMVNQARLLYIIFGPISPQDGQVVWQEMIEEPTDEFSLKGLADAIKLLYDASTKEW
TADDVISLVDELSVVPREWLLENNARLLMLSGNNICFSFMASKAVNGRTIELARLVVFLA
LVCEKELYCMDWTVKMMQKVCKVFSTPVERKNFLQNVANAFACVIMEMLQSIMSGDRDED
DRSFLNLFHLVHAQANFHKEVLYLTMNTPLST
Sequence length 452
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene miRNA Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FBXO47-related disorder Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTIPLE SYSTEM ATROPHY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Multiple System Atrophy Multiple system atrophy Pubtator 27629089 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neoplasms Neoplasms BEFREE 15723337
★★★★★
★☆☆☆☆
Found in Text Mining only
Papillary Renal Cell Carcinoma Papillary Renal Carcinoma BEFREE 15723337
★★★★★
★☆☆☆☆
Found in Text Mining only
Shy-Drager Syndrome Shy-Drager Syndrome GWASCAT_DG 27629089
★★★★★
★☆☆☆☆
Found in Text Mining only