• Gene id: 494188

Gene Summary

• Gene Symbol: FBXO47   Gene   UCSC   Ensembl
• Gene name: F-box protein 47
• Alternate names: F-box only protein 47,
• Gene location: 17q12 (38967475: 38936277)     Exons: 11     NC_000017.11

Protein Summary

• Protein general information: Q5MNV8  
  • Name: F box only protein 47
  • Length: 452  
  • Mass: 51968
  • Tissue specificity: Widely expressed, with highest levels in kidney, liver and pancreas. Down-regulated in tumors. {ECO
• Sequence:

  MASRINTNFTLIPNQKLRRSNRQTSCYSKTLGSGFQPISTFGNFKALPLEIFQIILKYLSVKDISMLSMVSKTVS
  QHIINYISTSSGSKRLLLQDFHNLELPDRRQDSAILEHYRSLGLLFKRCTLLLPTKERLKYIHKILTEVSCFKFN
  GCAAPMQCLGLTCYGMFLQTLTAGWDELECHRVYNFLCELTNLCRKIQMAVCSKPGSAQKLELRIRLFCRNVLLD
  HWTHRSDSAFWLTRILKPWPMVNQARLLYIIFGPISPQDGQVVWQEMIEEPTDEFSLKGLADAIKLLYDASTKEW
  TADDVISLVDELSVVPREWLLENNARLLMLSGNNICFSFMASKAVNGRTIELARLVVFLALVCEKELYCMDWTVK
  MMQKVCKVFSTPVERKNFLQNVANAFACVIMEMLQSIMSGDRDEDDRSFLNLFHLVHAQANFHKEVLYLTMNTPL
  ST

• Structural information:
  • Protein Domains: (41..9-)
    (/note="F-box-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00080"-)
  • Interpro: IPR036047  IPR001810  IPR038946  
  • Prosite: PS50181
  • STRING: ENSP00000367319
• Other Databases: GeneCards:  FBXO47  Malacards:  FBXO47

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq