• Gene id: 84660

Gene Summary

• Gene Symbol: CCDC62   Gene   UCSC   Ensembl
• Aliases: CT109, ERAP75, TSP-NY
• Gene name: coiled-coil domain containing 62
• Alternate names: coiled-coil domain-containing protein 62, aaa-protein, cancer/testis antigen 109, coiled-coil domain-containing protein 60, testis-specific protein TSP-NY,
• Gene location: 12q24.31 (122773620: 122827527)     Exons: 2     NC_000012.12
• OMIM: 613481

Protein Summary

• Protein general information: Q6P9F0  
  • Name: Coiled coil domain containing protein 62 (Protein TSP NY) (Protein aaa)
  • Length: 684  
  • Mass: 77748
  • Tissue specificity: Highly expressed in adult testis. Expressed in both prostate epithelial and stromal cells, with predominant expression in epithelial cells (at protein level) (PubMed
• Sequence:

  MNPPAAFLAGRQNIGSEVEISTIEKQRKELQLLIGELKDRDKELNDMVAVHQQQLLSWEEDRQKVLTLEERCSKL
  EGELHKRTEIIRSLTKKVKALESNQMECQTALQKTQLQLQEMAQKATHSSLLSEDLEARNETLSNTLVELSAQVG
  QLQAREQALTTMIKLKDKDIIEAVNHIADCSGKFKMLEHALRDAKMAETCIVKEKQDYKQKLKALKIEVNKLKED
  LNEKTTENNEQREEIIRLKQEKSCLHDELLFTVEREKRKDELLNIAKSKQERTNSELHNLRQIYVKQQSDLQFLN
  FNVENSQELIQMYDSKMEESKALDSSRDMCLSDLENNHPKVDIKREKNQKSLFKDQKFEAMLVQQNRSDKSSCDE
  CKEKKQQIDTVFGEKSVITLSSIFTKDLVEKHNLPWSLGGKTQIEPENKITLCKIHTKSPKCHGTGVQNEGKQPS
  ETPTLSDEKQWHDVSVYLGLTNCPSSKHPEKLDVECQDQMERSEISCCQKNEACLGESGMCDSKCCHPSNFIIEA
  PGHMSDVEWMSIFKPSKMQRIVRLKSGCTCSESICGTQHDSPASELIAIQDSHSLGSSKSALREDETESSSNKKN
  SPTSLLIYKDAPAFNEKASIVLPSQDDFSPTSKLQRLLAESRQMVTDLELSTLLPISHENLTGSATNKSEVPEES
  AQKNTFVSY

• Structural information:
  • STRING: ENSP00000253079
• Other Databases: GeneCards:  CCDC62  Malacards:  CCDC62

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071392	cellular response to estradiol stimulus	IDA	biological process
GO:0071392	cellular response to estradiol stimulus	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0030331	estrogen receptor binding	IPI	molecular function
GO:0030331	estrogen receptor binding	IPI	molecular function
GO:0030374	nuclear receptor transcription coactivator activity	IPI	molecular function
GO:0030374	nuclear receptor transcription coactivator activity	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IPI	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001835	blastocyst hatching	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Globozoospermia	MIK: 31985809
Teratozoospermia	MIK: 17327269

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
31985809	Globozoospermia	p.(Gln148*), p.(His283Tyr)		16 infertile patients	Male infertility	NGS