• Gene id: 64897

Gene Summary

• Gene Symbol: C12orf43   Gene   UCSC   Ensembl
• Aliases: Custos
• Gene name: chromosome 12 open reading frame 43
• Alternate names: protein CUSTOS, uncharacterized protein C12orf43,
• Gene location: 12q24.31 (111879223: 111885974)     Exons: 5     NC_000011.10

Protein Summary

• Protein general information: Q96C57  
  • Name: Protein CUSTOS
  • Length: 262  
  • Mass: 28171
• Sequence:

  MAAPSGTVSDSESSNSSSDAEELERCREAAMPAWGLEQRPHVAGKPRAGAANSQLSTSQPSLRHKVNEHEQDGNE
  LQTTPEFRAHVAKKLGALLDSFITISEAAKEPAKAKVQKVALEDDGFRLFFTSVPGGREKEESPQPRRKRQPSSS
  SEDSDEEWRRCREAAVSASDILQESAIHSPGTVEKEAKKKRKLKKKAKKVASVDSAVAATTPTSMATVQKQKSGE
  LNGDQVSLGTKKKKKAKKASETSPFPPAKSATAIPAN

• Structural information:
  • Interpro: IPR026694  
  • STRING: ENSP00000437803
• Other Databases: GeneCards:  C12orf43  Malacards:  C12orf43

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060061	Spemann organizer formation	IBA	biological process
GO:0030178	negative regulation of Wnt signaling pathway	IBA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005635	nuclear envelope	IEA	cellular component

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			13 (5 controls, 8 cases)	Male infertility	GSE6967 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