• Gene id: 146849

Gene Summary

• Gene Symbol: CCDC42   Gene   UCSC   Ensembl
• Aliases: CCDC42A
• Gene name: coiled-coil domain containing 42
• Alternate names: coiled-coil domain-containing protein 42, coiled-coil domain-containing protein 42A,
• Gene location: 17p13.1 (8744835: 8729934)     Exons: 7     NC_000017.11

Protein Summary

• Protein general information: Q96M95  
  • Name: Coiled coil domain containing protein 42
  • Length: 316  
  • Mass: 38019
• Sequence:

  MSLGIMEEEDLAEYFRLQYGERLLQMLQKLPNVEGASESPSIWLLEKKKETEIMHQTMVQKKKMFQRRMETLNLR
  WEELGVKEAQLKAHIQKSEQFIQENDQKRIRAMKKANKERELKCQHMQELTKRKQEMVALRLEHQRLSAKLKDYY
  IFNKYLEKVVENSEFEEIHEVIARYKTLVSMRHDLMQSAQEGQEKIERAKARLARYMEEKDDEILQQNNELARLQ
  MRFDRARSNVIFWESRWAHIQNTAAKKTLLLGTIKMATLNLFQIVSKHLKEVTEVALEDTHKQLDMIQQFIQDRS
  DIWAEVKKKEQQRVRI

• Structural information:
  • Interpro: IPR025252  
  • STRING: ENSP00000293845
• Other Databases: GeneCards:  CCDC42  Malacards:  CCDC42

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007286	spermatid development	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007286	spermatid development	IEA	biological process

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray