• Gene id: 340578

Gene Summary

• Gene Symbol: DCAF12L2   Gene   UCSC   Ensembl
• Aliases: WDR40C
• Gene name: DDB1 and CUL4 associated factor 12 like 2
• Alternate names: DDB1- and CUL4-associated factor 12-like protein 2, WD repeat-containing protein 40C,
• Gene location: Xq25 (126166288: 126163498)     Exons: 1     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multi-protein co
• OMIM: 618455

Protein Summary

• Protein general information: Q5VW00  
  • Name: DDB1 and CUL4 associated factor 12 like protein 2 (WD repeat containing protein 40C)
  • Length: 463  
  • Mass: 50803
• Sequence:

  MAQQQTGSRKRKAPAVEAGAGSSSSQGLAAADGEGPLLPKKQKRPATRRRLVHYLKGREVGARGPAGLQGFEGEL
  RGYAVQRLPELLTERQLDLGTLNKVFASQWLNARQVVCGTKCNTLFVVDVQSGHITRIPLMRDKEAGLAQAHQGC
  GIHAIELNPSKTLLATGGENPNSLAIYQLPTLDPLCLGDRHGHKDWIFAVAWLSDTVAVSGSRDGTVALWRMDPD
  MFNGSIAWHSEVGLPVYAHIRPRDVEAIPRASTNPSNRKVRALAFSGKNQELGAVSLDGYFHLWKARSTLSRLLS
  IRLPYCRENVCLTYCDELSLYAVGSQSHVSFLDPRQRQQNIRPLCSREGGTGVRSLSFYQHIITVGTGHGSLLFY
  DIRAQKFLEERASSSLDSMPGPAGRKLKLACGRGWLNQDDVWVNYFGGMGEFPNALYTHCYNWPEMKLFVAGGPL
  PSGLHGNYAGLWS

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR017986  IPR036322  
  • Prosite: PS50082 PS50294
  • STRING: ENSP00000353128
• Other Databases: GeneCards:  DCAF12L2  Malacards:  DCAF12L2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0080008	Cul4-RING E3 ubiquitin ligase complex	IBA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq