• Gene id: 255762

Gene Summary

• Gene Symbol: PDZD9   Gene   UCSC   Ensembl
• Aliases: C16orf65
• Gene name: PDZ domain containing 9
• Alternate names: PDZ domain-containing protein 9, PDZ domain-containing protein C16orf65,
• Gene location: 16p12.2 (93377924: 93408145)     Exons: 8     NC_000012.12

Protein Summary

• Protein general information: Q8IXQ8  
  • Name: PDZ domain containing protein 9
  • Length: 264  
  • Mass: 29904
• Sequence:

  MQKASHKNKKERGVSNKVKTSVHNLSKTQQTKLTVGSLGLGLIIIQHGPYLQITHLIRKGAAANDGKLQPGDVLI
  SVGHANVLGYTLREFLQLLQHITIGTVLQIKVYRDFINIPEEWQEIYDLIPEAKFPVTSTPKKIELAKDESFTSS
  DDNENVDLDKRLQYYRYPWSTVHHPARRPISISRDWHGYKKKNHTISVGKDINCDVMIHRDDKKEVRAPSPYWIM
  VKQDNESSSSSTSSTSDAFWLEDCAQVEEGKAQLVSKVG

• Structural information:
  • Protein Domains: (30..10-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR001478  IPR036034  IPR039179  
  • Prosite: PS50106
  • STRING: ENSP00000441685
• Other Databases: GeneCards:  PDZD9  Malacards:  PDZD9

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
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)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray