• Gene id: 79741

Gene Summary

• Gene Symbol: CCDC7   Gene   UCSC   Ensembl
• Aliases: BIOT2, BioT2-A, BioT2-B, BioT2-C, C10orf68
• Gene name: coiled-coil domain containing 7
• Alternate names: coiled-coil domain-containing protein 7, uncharacterized protein C10orf68, epididymis secretory sperm binding protein,
• Gene location: 10p11.22 (32446128: 32882863)     Exons: 59     NC_000010.11

Protein Summary

• Protein general information: Q96M83  
  • Name: Coiled coil domain containing protein 7 (Protein BIOT2)
  • Length: 1385  
  • Mass: 157448
  • Tissue specificity: Expressed in epithelium of normal cervix and cervical cancer. Overexpressed in early and interim cervical cancer. {ECO
• Sequence:

  MKPVKHLLTTSNKSANVPALTTKKGLHNLPLSPELKEKHNAKLIHDKIEPMVLRSPPTGESILRYALPIPSSKTK
  NLLPEDEMIGKIIKHLKMVVSTLEETYGHCDQNGEEPFVKHEHEELSLSVGDDMNSFLTYCSQFAAQLEEALKEE
  QNILESLFKWFQWQVNQMEEISKDQTLLQAEPPKPDKTVILNIAEIVRLVQRFEELKNRLKQRSKSSVKVMLSKT
  MDKENRPEAVKSCEALAQKIEEFLEAHSTDEFKDVSATEPQTAHSMTNRFNAMLKVFENQANMLERAVNDQVLLD
  AEYKQMQCDFQLLSEEKLVLENELQKLKDKEKTKPTNNRTKKAVKTVKKKDKGKSEDSEKKMSPEKEFKIKEDLD
  QVQKVARLEIENKVLQEQLKQALQEAEKAKHQLNYFLNQEKLLKSEGKTETTMQVGNSQTKVKGEDSKNIPLEKE
  TRKSLVSDSGGQRTSDKIQEYPQITAQSGRLIEKSSEKKRSSPAISDLSQILKSQDESAFLESSNEVSVAENQSY
  KSPSETHDKSLTTVSSSKEVQDSLSVGTLAQKNETVISPFILPPVLTESKKADVSEEQLQKMTEEQTYQAAEKSQ
  ADSEVPDENLMVENKDSVTKVQIEQMKQRTSSMERHEETLTTPQLPEDMVLVSRIQSETKNLKATRNESFHSHND
  VPEENLMLEQDTKSKTEVEVKKQKSFQDNQLSTHNEVPNERLVVEHQESLSKTKLQIKKQETSTEQPLTTPDKEP
  NENLILRHQDSMSKSEMQVKEQRTLKGQRIITHDEEPGKNLVLEHQDSVSKLEMQIEKTKKLPREKRHSTHDEES
  GENPMLKHQDSVSKIQVQLEIQETSEGEGRSIPDKNSMFVHQDSVSKLQMQEKKKITPGRERRNTRIVVPNENVI
  SVHQDSKSKLQMQEKKQINSGVERHKTFPLEIKKKDISLEHLLPEEKVLLSRSESQTKKLQAKVTSRKIKNEAAS
  ELPDTAENLPAMYPSISDLIIQFDLNKVVETDIESLRGALGRRLLNDEFKTQSKSFPGPDIEQLTDAFGRDILKD
  EFKTRSKSLPETDERLHSTTERGTINDAIKTQLKRKSYPETVLKHLKGVNGKDIIKHLINIQSKSHGETDKEHLA
  DDTGRGIIKGSINAQLKGHQKTDKNFFAYATGRGLMKESTTTQLKSHPETDKEFLADAIGRGIIIGPITTQLKSH
  RETDKELLKDAIGRDIIKGPISAQLKSHQETDVEPLTNAIGSSKTIGEIKTQLRTHYDVNLFKNKDMSVQRQEGI
  FTRSITPSKFPTKVINLSPFENKEETYEYSSPYVTAPSKAIYRTYRAGPSFSKDIHLPLLNQLPSGHSKVVTLSQ
  KTIEFTLPTVTNTVGKPTYKVLHAAARKSVPHPYF

• Structural information:
  • Interpro: IPR029272  
  • STRING: ENSP00000355078
• Other Databases: GeneCards:  CCDC7  Malacards:  CCDC7

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R