• Gene id: 146845

Gene Summary

• Gene Symbol: CFAP52   Gene   UCSC   Ensembl
• Aliases: WDR16, WDRPUH
• Gene name: cilia and flagella associated protein 52
• Alternate names: cilia- and flagella-associated protein 52, WD repeat domain 16, WD repeat-containing protein 16, WD40-repeat protein up-regulated in HCC, WD40-repeat protein upregulated in HCC,
• Gene location: 17p13.1 (9576641: 9643446)     Exons: 14     NC_000017.11
• Gene summary(Entrez): WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [
• OMIM: 609804

Protein Summary

• Protein general information: Q8N1V2  
  • Name: Cilia and flagella associated protein 52 (WD repeat containing protein 16) (WD40 repeat protein up regulated in HCC)
  • Length: 620  
  • Mass: 68298
  • Tissue specificity: Highly expressed in testis. Up-regulated in hepatocellular carcinoma (HCC). {ECO
• Sequence:

  MDNKISPEAQVAELELDAVIGFNGHVPTGLKCHPDQEHMIYPLGCTVLIQAINTKEQNFLQGHGNNVSCLAISRS
  GEYIASGQVTFMGFKADIILWDYKNRELLARLSLHKGKIEALAFSPNDLYLVSLGGPDDGSVVVWSIAKRDAICG
  SPAAGLNVGNATNVIFSRCRDEMFMTAGNGTIRVWELDLPNRKIWPTECQTGQLKRIVMSIGVDDDDSFFYLGTT
  TGDILKMNPRTKLLTDVGPAKDKFSLGVSAIRCLKMGGLLVGSGAGLLVFCKSPGYKPIKKIQLQGGITSITLRG
  EGHQFLVGTEESHIYRVSFTDFKETLIATCHFDAVEDIVFPFGTAELFATCAKKDIRVWHTSSNRELLRITVPNM
  TCHGIDFMRDGKSIISAWNDGKIRAFAPETGRLMYVINNAHRIGVTAIATTSDCKRVISGGGEGEVRVWQIGCQT
  QKLEEALKEHKSSVSCIRVKRNNEECVTASTDGTCIIWDLVRLRRNQMILANTLFQCVCYHPEEFQIITSGTDRK
  IAYWEVFDGTVIRELEGSLSGSINGMDITQEGVHFVTGGNDHLVKVWDYNEGEVTHVGVGHSGNITRIRISPGNQ
  YIVSVSADGAILRWKYPYTS

• Structural information:
  • Interpro: IPR033015  IPR015943  IPR001680  IPR019775  IPR017986   IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • STRING: ENSP00000339449
• Other Databases: GeneCards:  CFAP52  Malacards:  CFAP52

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq