• Gene id: 153733

Gene Summary

• Gene Symbol: CCDC112   Gene   UCSC   Ensembl
• Aliases: MBC1
• Gene name: coiled-coil domain containing 112
• Alternate names: coiled-coil domain-containing protein 112, mutated in bladder cancer 1, mutated in bladder cancer protein 1,
• Gene location: 5q22.3 (115296754: 115267187)     Exons: 12     NC_000005.10
• OMIM: 0

Protein Summary

• Protein general information: Q8NEF3  
  • Name: Coiled coil domain containing protein 112 (Mutated in bladder cancer protein 1)
  • Length: 446  
  • Mass: 53565
• Sequence:

  MEKDKHSHFYNQKSDFRIEHSMLEELENKLIHSRKTERAKIQQQLAKIHNNVKKLQHQLKDVKPTPDFVEKLREM
  MEEIENAINTFKEEQRLIYEELIKEEKTTNNELSAISRKIDTWALGNSETEKAFRAISSKVPVDKVTPSTLPEEV
  LDFEKFLQQTGGRQGAWDDYDHQNFVKVRNKHKGKPTFMEEVLEHLPGKTQDEVQQHEKWYQKFLALEERKKESI
  QIWKTKKQQKREEIFKLKEKADNTPVLFHNKQEDNQKQKEEQRKKQKLAVEAWKKQKSIEMSMKCASQLKEEEEK
  EKKHQKERQRQFKLKLLLESYTQQKKEQEEFLRLEKEIREKAEKAEKRKNAADEISRFQERDLHKLELKILDRQA
  KEDEKSQKQRRLAKLKEKVENNVSRDPSRLYKPTKGWEERTKKIGPTGSGPLLHIPHRAIPTWRQGIQRRV

• Structural information:
  • Interpro: IPR039902  
  • STRING: ENSP00000368931
• Other Databases: GeneCards:  CCDC112  Malacards:  CCDC112

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq