• Gene id: 90835

Gene Summary

• Gene Symbol: CCDC189   Gene   UCSC   Ensembl
• Aliases: C16orf93
• Gene name: coiled-coil domain containing 189
• Alternate names: coiled-coil domain-containing protein 189,
• Gene location: 16p11.2 (30762271: 30757225)     Exons: 7     NC_000016.10
• OMIM: 618318

Protein Summary

• Protein general information: A1A4V9  
  • Name: Coiled coil domain containing protein 189
  • Length: 331  
  • Mass: 37921
• Sequence:

  MLNRKTSHFLGMRVQSELEHLSELRREAGKDRSSVHGSAARTRASVRTQWTTAAAAKADEDPGANLFPPPLPRPR
  ICMWKYLDVHSMHQLEKTTNAEMREVLAELLELGCPEQSLRDAITLDLFCHALIFCRQQGFSLEQTSAACALLQD
  LHKACIATPLGNVEECYRYFTSVLFCHGVRRPPFSIDLFKEEQLLALEDYVVNTYFRHFKLYKYVFTPQVRLDLS
  LTYMGLQPPKLWPESETEKEESKEMEEQAVTPQKEELETVAPPEPEPSHIHVLRAYIKTQVNKELEQLQGLVEER
  LKASEERLSSKLTALERPFQLPPGKGKSKTK

• Structural information:
  • Interpro: IPR032727  
  • STRING: ENSP00000437532
• Other Databases: GeneCards:  CCDC189  Malacards:  CCDC189

Diseases

Associated diseases	References
Important for sperm flagella and the acrosome region	MIK: 27032685
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R