• Gene id: 83987

Gene Summary

• Gene Symbol: CCDC8   Gene   UCSC   Ensembl
• Aliases: 3M3, PPP1R20, p90
• Gene name: coiled-coil domain containing 8
• Alternate names: coiled-coil domain-containing protein 8, protein phosphatase 1, regulatory subunit 20,
• Gene location: 19q13.32 (46413563: 46410328)     Exons: 1     NC_000019.10
• Gene summary(Entrez): This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein
• OMIM: 606860

Protein Summary

• Protein general information: Q9H0W5  
  • Name: Coiled coil domain containing protein 8
  • Length: 538  
  • Mass: 59374
  • Tissue specificity: Widely expressed with low levels in spleen, skeletal muscle, small intestine, kidney and liver. {ECO
• Sequence:

  MLQIGEDVDYLLIPREVRLAGGVWRVISKPATKEAEFRERLTQFLEEEGRTLEDVARIMEKSTPHPPQPPKKPKE
  PRVRRRVQQMVTPPPRLVVGTYDSSNASDSEFSDFETSRDKSRQGPRRGKKVRKMPVSYLGSKFLGSDLESEDDE
  ELVEAFLRRQEKQPSAPPARRRVNLPVPMFEDNLGPQLSKADRWREYVSQVSWGKLKRRVKGWAPRAGPGVGEAR
  LASTAVESAGVSSAPEGTSPGDRLGNAGDVCVPQASPRRWRPKINWASFRRRRKEQTAPTGQGADIEADQGGEAA
  DSQREEAIADQREGAAGNQRAGAPADQGAEAADNQREEAADNQRAGAPAEEGAEAADNQREEAADNQRAEAPADQ
  RSQGTDNHREEAADNQRAEAPADQGSEVTDNQREEAVHDQRERAPAVQGADNQRAQARAGQRAEAAHNQRAGAPG
  IQEAEVSAAQGTTGTAPGARARKQVKTVRFQTPGRFSWFCKRRRAFWHTPRLPTLPKRVPRAGEARNLRVLRAEA
  RAEAEQGEQEDQL

• Structural information:
  • Interpro: IPR026526  IPR026523  
  • PDB: 4LG6
  • PDBsum: 4LG6
  • DIP: 60183
  • STRING: ENSP00000303158
• Other Databases: GeneCards:  CCDC8  Malacards:  CCDC8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990393	3M complex	IBA	cellular component
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0007088	regulation of mitotic nuclear division	IBA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:1990393	3M complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0010923	negative regulation of phosphatase activity	IDA	biological process
GO:0000226	microtubule cytoskeleton organization	IMP	biological process
GO:0007088	regulation of mitotic nuclear division	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
3M syndrome	KEGG:H00509
3M syndrome	KEGG:H00509
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881