• Gene id: 285331

Gene Summary

• Gene Symbol: CCDC66   Gene   UCSC   Ensembl
• Gene name: coiled-coil domain containing 66
• Alternate names: coiled-coil domain-containing protein 66,
• Gene location: 3p14.3 (22374618: 22345935)     Exons: 5     NC_000016.10

Protein Summary

• Protein general information: A2RUB6  
  • Name: Coiled coil domain containing protein 66
  • Length: 948  
  • Mass: 109411
  • Tissue specificity: Widely expressed (at protein level) (PubMed
• Sequence:

  MNLGDGLKLETELLDGKTKLILSPYEHKSKISVKMGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGS
  ETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLV
  CLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQ
  ETSKQCEQKIAIENEWKPADIFSTLGERECDRSSLEAKKAQWRKELDEQVALKKKEKEVSEKWNDPWKKSESDKI
  IWEKHQILDQSRETVLLEHPFSAVKQELQRKWIEELNKQIEDDRQRKIEEKIIYSKGEEHDRWAMHFDSLKSYPG
  SQSQLFSQSTHKQPEYFCVSPDTQELADVSSVCTPTTGSQVEPSEEEHIAKPIKDVVMANSKKTNFLRSMTALLD
  PAQIEERDRRRQKQLEHQKAITAQVEEKRRKKQLEEEQRKKEEQEEELRLAQEREEMQKQYEEDILKQKQKEEIM
  TLKTNELFQTMQRAQELAQRLKQEQRIRELAQKGHDTSRLIKNLGVDTIQMEYNASNISNSRHDSDEISGKMNTY
  MNSTTSKKDTGVQTDDLNIGIFTNAESHCGSLMERDITNCSSPEISAELIGQFSTKKNKQELTQDKGASLEKENN
  RCNDQCNQFTRIEKQTKHMKKYPKRPDWNINKPPKRYIPASEKYPKQLQKQREEKKVRRQMELLHLVEKNNPGHL
  SQNRGISPEIFHSSHQETESKLRWHLVKKEEEPLNIHSFSKERSPSSPVPVVKNRTQQTQNTLHLPLKNSSYERE
  NLISGSNQTELSSGISESSHFIPYVRTNEIYYLDPDAPLSGPSTQDPQYQNSQDCGQKRQLFDSDCVRDPLLNPN
  MVKNRDRQQAILKGLSELRQGLLQKQKELESSLLPLAENQEESFGSSF

• Structural information:
  • Interpro: IPR039183  IPR040467  
  • STRING: ENSP00000378167
• Other Databases: GeneCards:  CCDC66  Malacards:  CCDC66

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008017	microtubule binding	IDA	molecular function
GO:0035869	ciliary transition zone	IDA	NOT|colocalizes with
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0001917	photoreceptor inner segment	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005874	microtubule	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0001895	retina homeostasis	ISS	biological process
GO:1903564	regulation of protein localization to cilium	IMP	biological process
GO:0001578	microtubule bundle formation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005813	centrosome	IEA	cellular component
GO:0008017	microtubule binding	IEA	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0050908	detection of light stimulus involved in visual perception	IEA	biological process
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0090543	Flemming body	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq