• Gene id: 164592

Gene Summary

• Gene Symbol: CCDC116   Gene   UCSC   Ensembl
• Gene name: coiled-coil domain containing 116
• Alternate names: coiled-coil domain-containing protein 116,
• Gene location: 22q11.21 (21632120: 21637328)     Exons: 56     NC_000022.11

Protein Summary

• Protein general information: Q8IYX3  
  • Name: Coiled coil domain containing protein 116
  • Length: 613  
  • Mass: 67946
• Sequence:

  MARCRHHSGYLADDEASHSMCSARVQLPKKPLVPEMRPACKPGRVPHPPSTCGSSALQGQRRNKRHPQPFGHFLD
  FLTESQVLDSLETVVEKATERMAAMKTEAGVPLVEVQDPVEVPSGGRRAHARPSLSTVHRHRVRPTLCTGHPNNY
  PSSSSSMSNCHSSLMAGCLGSHSRDSDLGAQGSLPPVRDKLLLEKNLKRLLQLEREGKGLSQSCSQRDSLLWDSL
  GSQTSFQWTQEQPLSWFSGLLGSSSGVPEASEPRPGEQEPIFRKREFNKEIKSLLSQLESLDLPGYCPLREPHRT
  LNFLADHRLFPALQSVVSQAVDKLRGAHCRDGRPLFPTSLEPTSDLPPLGSEPAKPTNGGQPYASPRPTVSSPKM
  LQRKRKDRGGSPSMSSAQVATRFKLKSPCSSSRFTKKKPLPSISSKSSMSHFSNRLYEELADFLTQQAASLVIRK
  YEFEKDLSKQLGFFSFPITHVLRDLSLGLKKVKGSRIHLSSETHRSCLLRKLEESKRARQASRLSTSHCSTETPS
  VQQEPATHTAQDQATEPCRSLYTNLPASRQLSPLEPKLYMSACTGMGSSPPKSKDMDNEGRDKAEIEDEDEDEFK
  DEDQDEDKDEDGV

• Structural information:
  • Interpro: IPR031532  
  • STRING: ENSP00000292779
• Other Databases: GeneCards:  CCDC116  Malacards:  CCDC116

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
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
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
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
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
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
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
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
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
GO:0005515	protein binding	IPI	molecular function
GO:0005815	microtubule organizing center	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq