• Gene id: 199223

Gene Summary

• Gene Symbol: TTC21A   Gene   UCSC   Ensembl
• Aliases: IFT139A, SPGF37, STI2
• Gene name: tetratricopeptide repeat domain 21A
• Alternate names: tetratricopeptide repeat protein 21A, TPR domain containing STI2, TPR repeat protein 21A, stress-inducible protein 2, testicular tissue protein Li 212,
• Gene location: 3p22.2 (39107660: 39139008)     Exons: 30     NC_000003.12
• OMIM: 611430

Protein Summary

• Protein general information: Q8NDW8  
  • Name: Tetratricopeptide repeat protein 21A (TPR repeat protein 21A) (Stress inducible protein 2)
  • Length: 1320  
  • Mass: 150944
  • Tissue specificity: Strongly expressed in testis. {ECO
• Sequence:

  MSSNDSSLMAGIIYYSQEKYFHHVQQAAAVGLEKFSNDPVLKFFKAYGVLKEEHIQDAISDLESIRHHPDVSLCS
  TMALIYAHKRCEIIDREAIQELEYSLKEIRKTVSGTALYYAGLFLWLIGRHDKAKEYIDRMLKISRGFREAYVLR
  GWVDLTSDKPHTAKKAIEYLEQGIQDTKDVLGLMGKAMYFMMQQNYSEALEVVNQITVTSGSFLPALVLKMQLFL
  ARQDWEQTVEMGHRILEKDESNIDACQILTVHELAREGNMTTVSSLKTQKATNHVRNLIKALETREPENPSLHLK
  KIIVVSRLCGSHQVILGLVCSFIERTFMATPSYVHVATELGYLFILKNQVKEALLWYSEAMKLDKDGMAGLTGII
  LCHILEGHLEEAEYRLEFLKEVQKSLGKSEVLIFLQALLMSRKHKGEEETTALLKEAVELHFSSMQGIPLGSEYF
  EKLDPYFLVCIAKEYLLFCPKQPRLPGQIVSPLLKQVAVILNPVVKAAPALIDPLYLMAQVRYYSELENAQSILQ
  RCLELDPASVDAHLLMCQIYLAQGNFGMCFHCLELGVSHNFQVRDHPLYHLIKARALNKAGDYPEAIKTLKMVIK
  LPALKKEEGRKFLRPSVQPSQRASILLELVEALRLNGELHEATKVMQDTINEFGGTPEENRITIANVDLVLSKGN
  VDVALNMLRNILPKQSCYMEAREKMANIYLQTLRDRRLYIRCYRELCEHLPGPHTSLLLGDALMSILEPEKALEV
  YDEAYRQNPHDASLASRIGHAYVKAHQYTEAIEYYEAAQKINGQDFLCCDLGKLLLKLKKVNKAEKVLKQALEHD
  IVQDIPSMMNDVKCLLLLAKVYKSHKKEAVIETLNKALDLQSRILKRVPLEQPEMIPSQKQLAASICIQFAEHYL
  AEKEYDKAVQSYKDVFSYLPTDNKVMLELAQLYLLQGHLDLCEQHCAILLQTEQNHETASVLMADLMFRKQKHEA
  AINLYHQVLEKAPDNFLVLHKLIDLLRRSGKLEDIPAFFELAKKVSSRVPLEPGFNYCRGIYCWHIGQPNEALKF
  LNKARKDSTWGQSAIYHMVQICLNPDNEVVGGEAFENQGAESNYMEKKELEQQGVSTAEKLLREFYPHSDSSQTQ
  LRLLQGLCRLATREKANMEAALGSFIQIAQAEKDSVPALLALAQAYVFLKQIPKARMQLKRLAKTPWVLSEAEDL
  EKSWLLLADIYCQGSKFDLALELLRRCVQYNKSCYKAYEYMGFIMEKEQSYKDAVTNYKLAWKYSHHANPAIGFK
  LAFNYLKDKKFVEAIEICNDVLREHPDYPKIREEILEKARRSLRP

• Structural information:
  • Interpro: IPR013026  IPR011990  IPR019734  IPR040364  
  • Prosite: PS50005 PS50293
  • STRING: ENSP00000398211
• Other Databases: GeneCards:  TTC21A  Malacards:  TTC21A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030991	intraciliary transport particle A	IBA	cellular component
GO:0061512	protein localization to cilium	IBA	biological process
GO:0035721	intraciliary retrograde transport	IBA	biological process
GO:0007286	spermatid development	IMP	biological process
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0005929	cilium	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic failure	KEGG:H01282
Spermatogenic failure	KEGG:H01282
Asthenoteratospermia	MIK: 30929735
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
30929735	Asthenoteratospermia	tetratricopeptide repeat domain 21A	Han Chi nese	65 Han Chinese men with MMAF	Male infertility	NGS
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray