• Gene id: 54970

Gene Summary

• Gene Symbol: TTC12   Gene   UCSC   Ensembl
• Aliases: CILD45, TPARM
• Gene name: tetratricopeptide repeat domain 12
• Alternate names: tetratricopeptide repeat protein 12, TPR repeat protein 12,
• Gene location: 11q23.2 (113314568: 113385951)     Exons: 33     NC_000011.10
• OMIM: 610732

Protein Summary

• Protein general information: Q9H892  
  • Name: Tetratricopeptide repeat protein 12 (TPR repeat protein 12)
  • Length: 705  
  • Mass: 78756
• Sequence:

  MDADKEKDLQKFLKNVDEISNLIQEMNSDDPVVQQKAVLETEKRLLLMEEDQEEDECRTTLNKTMISPPQTAMKS
  AEEINSEAFLASVEKDAKERAKRRRENKVLADALKEKGNEAFAEGNYETAILRYSEGLEKLKDMKVLYTNRAQAY
  MKLEDYEKALVDCEWALKCDEKCTKAYFHMGKANLALKNYSVSRECYKKILEINPKLQTQVKGYLNQVDLQEKAD
  LQEKEAHELLDSGKNTAVTTKNLLETLSKPDQIPLFYAGGIEILTEMINECTEQTLFRMHNGFSIISDNEVIRRC
  FSTAGNDAVEEMVCVSVLKLWQAVCSRNEENQRVLVIHHDRARLLAALLSSKVLAIRQQSFALLLHLAQTESGRS
  LIINHLDLTRLLEALVSFLDFSDKEANTAMGLFTDLALEERFQVWFQANLPGVLPALTGVLKTDPKVSSSSALCQ
  CIAIMGNLSAEPTTRRHMAACEEFGDGCLSLLARCEEDVDLFREVIYTLLGLMMNLCLQAPFVSEVWAVEVSRRC
  LSLLNSQDGGILTRAAGVLSRTLSSSLKIVEEALRAGVVKKMMKFLKTGGETASRYAIKILAICTNSYHEAREEV
  IRLDKKLSVMMKLLSSEDEVLVGNAALCLGNCMEVPNVASSLLKTDLLQVLLKLAGSDTQKTAVQVNAGIALGKL
  CTAEPRFAAQLRKLHGLEILNSTMKYISDS

• Structural information:
  • Interpro: IPR016024  IPR013026  IPR011990  IPR001440  IPR019734  
  • Prosite: PS50005 PS50293
  • STRING: ENSP00000433757
• Other Databases: GeneCards:  TTC12  Malacards:  TTC12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray