• Gene id: 285231

Gene Summary

• Gene Symbol: FBXW12   Gene   UCSC   Ensembl
• Aliases: FBW12, FBXO12, FBXO35
• Gene name: F-box and WD repeat domain containing 12
• Alternate names: F-box/WD repeat-containing protein 12, F-box and WD-40 domain protein 12, F-box and WD-40 domain-containing protein 12, F-box only protein 35, F-box- and WD40-repeat-containing protein,
• Gene location: 3p21.31 (48372218: 48394829)     Exons: 11     NC_000003.12
• Gene summary(Entrez): Members of the F-box protein family, such as FBXW12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box pr
• OMIM: 609075

Protein Summary

• Protein general information: Q6X9E4  
  • Name: F box/WD repeat containing protein 12 (F box and WD 40 domain containing protein 12) (F box only protein 35)
  • Length: 464  
  • Mass: 53056
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MEIRLPDLALKRIFSFLDLFGLLQVSQVNKHWNRIADSDYLWRSLSLQRWDCSNFTNQHLGTHTWKQFFLHQRRK
  ELRLALAQPHNFIYKVTKNIAFETELAYLSGNRLTVDEQEKSIICSVSPKQELCAWDVQEGTMIWSSPVQEFHFS
  NLVTLPQMHLAITMDRKKTIKVWNCQDRDALAVLPMPQPCYCMEAYLTKDGPFLMVGDAAGDIYTFTLPGLRDVS
  KVTAFQYGIVLLHCSPDKKWVFACGTYSRTLPQVFLTESLLRPSEGSVPLSTFLPHKLCASACWTPKVKNRITLM
  SQSSTGKKTEFITFDLTTKKTGGQTVIQAYEIASFQVAAHLKCPIWMGASDGYMIVFTSGPYLLLFSITGFLLQR
  FEDHQAAINNFWVDPCYVLTTSENSVHVYMWEEGGRHPYLRSCCHLENTWHDHTTDSCISSVMCDNASIVLRVRK
  VSDSSILVMYSLNT

• Structural information:
  • Protein Domains: (1..4-)
    (/note="F-box-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00080"-)
  • Interpro: IPR036047  IPR001810  IPR011044  IPR015943  
  • Prosite: PS50181
  • STRING: ENSP00000296438
• Other Databases: GeneCards:  FBXW12  Malacards:  FBXW12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray