• Gene id: 84058

Gene Summary

• Gene Symbol: WDR54   Gene   UCSC   Ensembl
• Gene name: WD repeat domain 54
• Alternate names: WD repeat-containing protein 54,
• Gene location: 2p13.1 (74421720: 74426258)     Exons: 10     NC_000002.12
• OMIM: 615124

Protein Summary

• Protein general information: Q9H977  
  • Name: WD repeat containing protein 54
  • Length: 334  
  • Mass: 35891
  • Tissue specificity: Expressed in epithelial cells (at protein level) (PubMed
• Sequence:

  MFRWERSIPLRGSAAALCNNLSVLQLPARNLTYFGVVHGPSAQLLSAAPEGVPLAQRQLHAKEGAGVSPPLITQV
  HWCVLPFRVLLVLTSHRGIQMYESNGYTMVYWHALDSGDASPVQAVFARGIAASGHFICVGTWSGRVLVFDIPAK
  GPNIVLSEELAGHQMPITDIATEPAQGQDCVADMVTADDSGLLCVWRSGPEFTLLTRIPGFGVPCPSVQLWQGII
  AAGYGNGQVHLYEATTGNLHVQINAHARAICALDLASEVGKLLSAGEDTFVHIWKLSRNPESGYIEVEHCHGECV
  ADTQLCGARFCDSSGNSFAVTGYDLAEIRRFSSV

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR017986  IPR036322  
  • Prosite: PS50082 PS50294
  • STRING: ENSP00000006526
• Other Databases: GeneCards:  WDR54  Malacards:  WDR54

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042058	regulation of epidermal growth factor receptor signaling pathway	IDA	biological process
GO:0031982	vesicle	IDA	cellular component
GO:0002091	negative regulation of receptor internalization	IMP	biological process
GO:0043408	regulation of MAPK cascade	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray