• Gene id: 51298

Gene Summary

• Gene Symbol: THEG   Gene   UCSC   Ensembl
• Aliases: CT56, THEG1
• Gene name: theg spermatid protein
• Alternate names: testicular haploid expressed gene protein, Theg homolog, cancer/testis antigen 56, testis-specific,
• Gene location: 19p13.3 (376692: 361746)     Exons: 11     NC_000019.10
• Gene summary(Entrez): This gene is specifically expressed in the nucleus of haploid male germ cells. The orthologous gene in mice encodes a protein that may play a role in protein assembly through interactions with T-complex protein 1 subunit epsilon. Alternatively spliced tra
• OMIM: 609503

Protein Summary

• Protein general information: Q9P2T0  
  • Name: Testicular haploid expressed gene protein (Cancer/testis antigen 56) (CT56)
  • Length: 379  
  • Mass: 43444
  • Tissue specificity: Testis specific. {ECO
• Sequence:

  MGDSRRRSLGNQPSSEAAGRSEREQDGDPRGLQSSVYESRRVTDPERQDLDNAELGPEDPEEELPPEEVAGEEFP
  ETLDPKEALSELERVLDKDLEEDIPEISRLSISQKLPSTTMTKARKRRRRRRLMELAEPKINWQVLKDRKGRCGK
  GYAWISPCKMSLHFCLCWPSVYWTERFLEDTTLTITVPAVSRRVEELSRPKRFYLEYYNNNRTTPVWPIPRSSLE
  YRASSRLKELAAPKIRDNFWSMPMSEVSQVSRAAQMAVPSSRILQLSKPKAPATLLEEWDPVPKPKPHVSDHNRL
  LHLARPKAQSDKCVPDRDPRWEVLDVTKKVVASPRIISLAKPKVRKGLNEGYDRRPLASMSLPPPKASPEKCDQP
  RPGL

• Structural information:
  • Interpro: IPR006623  IPR042401  
  • STRING: ENSP00000340088
• Other Databases: GeneCards:  THEG  Malacards:  THEG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030154	cell differentiation	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	TAS	biological process
GO:0051131	chaperone-mediated protein complex assembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007283	spermatogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Non obstructive azoospermia, 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
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)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray