• Gene id: 93233

Gene Summary

• Gene Symbol: CCDC114   Gene   UCSC   Ensembl
• Aliases: CILD20
• Gene name: coiled-coil domain containing 114
• Alternate names: coiled-coil domain-containing protein 114,
• Gene location: 19q13.33 (48321970: 48296451)     Exons: 17     NC_000019.10
• Gene summary(Entrez): This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013]
• OMIM: 0

Protein Summary

• Protein general information: Q96M63  
  • Name: Coiled coil domain containing protein 114
  • Length: 670  
  • Mass: 75046
• Sequence:

  MEGERRAYSKEVHQRINKQLEEIRRLEEVRGDLQVQISAAQNQVKRLRDSQRLENMDRLLKGRAQVQAEIEELQE
  QTRALDKQIQEWETRIFTHSKNVRSPGFILDQKVKIRRRIRILENQLDRVTCHFDNQLVRNAALREELDLLRIDR
  NRYLNVDRKLKKEIHHLHHLVSTLILSSTSAYAVREEAKAKMGLLRERAEKEEAQSEMEAQVLQRQILHLEQLHH
  FLKLKNNDRQPDPDVLEKREKQAGEVAEGVWKTSQERLVLCYEDALNKLSQLMGESDPDLLVQKYLEIEERNFAE
  FNFINEQNLELEHVQEEIKEMQEALVSARASKDDQHLLQEQQQKVLQQRMDKVHSEAERLEARFQDVRGQLEKLK
  ADIQLLFTKAHCDSSMIDDLLGVKTSMGDRDMGLFLSLIEKRLVELLTVQAFLHAQSFTSLADAALLVLGQSLED
  LPKKMAPLQPPDTLEDPPGFEASDDYPMSREELLSQVEKLVELQEQAEAQRQKDLAAAAAKLDGTLSVDLASTQR
  AGSSTVLVPTRHPHAIPGSILSHKTSRDRGSLGHVTFGGLSSSTGHLPSHITHGDPNTGHVTFGSTSASSGGHVT
  FRPVSASSYLGSTGYVGSSRGGENTEGGVESGGTASDSSGGLGSSRDHVSSTGPASSTGPGSSTSKDSRG

• Structural information:
  • STRING: ENSP00000318429
• Other Databases: GeneCards:  CCDC114  Malacards:  CCDC114

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005930	axoneme	IDA	cellular component
GO:0003341	cilium movement	IMP	biological process
GO:0036158	outer dynein arm assembly	IBA	biological process
GO:0005930	axoneme	IBA	cellular component
GO:0003341	cilium movement	IBA	biological process
GO:0005929	cilium	IDA	cellular component
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0036157	outer dynein arm	IMP	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	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:0005929	cilium	IEA	cellular component

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG:H00564
Primary ciliary dyskinesia	KEGG:H00564
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray