• Gene id: 124093

Gene Summary

• Gene Symbol: CCDC78   Gene   UCSC   Ensembl
• Aliases: C16orf25, CNM4, JFP10, hsCCDC78
• Gene name: coiled-coil domain containing 78
• Alternate names: coiled-coil domain-containing protein 78,
• Gene location: 16p13.3 (726879: 722577)     Exons: 12     NC_000016.10
• Gene summary(Entrez): The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]

Protein Summary

• Protein general information: A2IDD5  
  • Name: Coiled coil domain containing protein 78 (hsCCDC78)
  • Length: 438  
  • Mass: 48521
  • Tissue specificity: Expressed primarily in skeletal muscle. {ECO
• Sequence:

  MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHL
  HEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKN
  TMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQA
  EAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYH
  KRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTS
  EPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWSGPRWLKSNFLSYRSTWTSTWAGTSTKS

• Structural information:
  • Interpro: IPR039873  IPR029329  
  • STRING: ENSP00000293889
• Other Databases: GeneCards:  CCDC78  Malacards:  CCDC78

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098535	de novo centriole assembly involved in multi-ciliated epithelial cell differentiation	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0016529	sarcoplasmic reticulum	IDA	cellular component
GO:0098536	deuterosome	IDA	cellular component
GO:0042383	sarcolemma	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0003009	skeletal muscle contraction	IMP	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005814	centriole	IEA	cellular component

Diseases

Associated diseases	References
Centronuclear myopathy	KEGG:H00700
Centronuclear myopathy	KEGG:H00700
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray