• Gene id: 84692

Gene Summary

• Gene Symbol: CCDC54   Gene   UCSC   Ensembl
• Aliases: NYD-SP17, SP17
• Gene name: coiled-coil domain containing 54
• Alternate names: coiled-coil domain-containing protein 54, sperm protein 17, testes development-related NYD-SP17, testicular tissue protein Li 33, testis development protein NYD-SP17,
• Gene location: 3q13.12 (107377438: 107378634)     Exons: 6     NC_000003.12

Protein Summary

• Protein general information: Q8NEL0  
  • Name: Coiled coil domain containing protein 54 (Testis development protein NYD SP17)
  • Length: 328  
  • Mass: 37886
• Sequence:

  MYTLHTKRVKAAARQMWTSNLSKVRQSLKNVYHKCKIRHQDSTGYPTVTSDDCNQDDDSYDGKMNLPVVLQDVKT
  AQVELFSQMTDIVHMIPKVQEKTDLYQKQMEVLETRMNVNEDKQCTTTKDILSMKEDIKALKKKVTELEIQNSCS
  TIHCLEILEGERGKEITELLYKLIQPATLKNTLASTDMEISSAEPEKVPSYPKSTDHLEKKTISPQMKTLKKRNH
  QNASRSFEKAKPNIYIYPDFSTWIKLTFVHGGKWTFFLSATKLEEFIQWLLSRPTILPEEPQVITQRYCPFTGPI
  LSLTTICLSIFNNIYGFICSLKEEVTRL

• Structural information:
  • Interpro: IPR037758  
  • STRING: ENSP00000261058
• Other Databases: GeneCards:  CCDC54  Malacards:  CCDC54

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Teratozoospermia	MIK: 17327269

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)