• Gene id: 11022

Gene Summary

• Gene Symbol: TDRKH   Gene   UCSC   Ensembl
• Aliases: TDRD2
• Gene name: tudor and KH domain containing
• Alternate names: tudor and KH domain-containing protein, putative RNA binding protein, tudor domain containing 2, tudor domain-containing protein 2,
• Gene location: 1q21.3 (151790533: 151769432)     Exons: 16     NC_000001.11
• OMIM: 609501

Protein Summary

• Protein general information: Q9Y2W6  
  • Name: Tudor and KH domain containing protein (Tudor domain containing protein 2)
  • Length: 561  
  • Mass: 62046
• Sequence:

  MSTERTSWTSLSTIQKIALGLGIPASATVAYILYRRYRESREERLTFVGEDDIEIEMRVPQEAVKLIIGRQGANI
  KQLRKQTGARIDVDTEDVGDERVLLISGFPVQVCKAKAAIHQILTENTPVSEQLSVPQRSVGRIIGRGGETIRSI
  CKASGAKITCDKESEGTLLLSRLIKISGTQKEVAAAKHLILEKVSEDEELRKRIAHSAETRVPRKQPISVRREDM
  TEPGGAGEPALWKNTSSSMEPTAPLVTPPPKGGGDMAVVVSKEGSWEKPSDDSFQKSEAQAIPEMPMFEIPSPDF
  SFHADEYLEVYVSASEHPNHFWIQIVGSRSLQLDKLVNEMTQHYENSVPEDLTVHVGDIVAAPLPTNGSWYRARV
  LGTLENGNLDLYFVDFGDNGDCPLKDLRALRSDFLSLPFQAIECSLARIAPSGDQWEEEALDEFDRLTHCADWKP
  LVAKISSYVQTGISTWPKIYLYDTSNGKKLDIGLELVHKGYAIELPEDIEENRAVPDMLKDMATETDASLSTLLT
  ETKKSSGEITHTLSCLSLSEAASMSGDDNLEDDYLL

• Structural information:
  • Protein Domains: (52..11-)
    (/note="KH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00117-)
    (124..19-)
    (/note="KH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00117-)
    (353..41-)
    (/note="Tudor-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00211"-)
  • Interpro: IPR004087  IPR004088  IPR036612  IPR035437  IPR002999  
  • Prosite: PS50084 PS50304
  • PDB: 2DIQ 3FDR 5J39 6B57 6PI7
  • PDBsum: 2DIQ 3FDR 5J39 6B57 6PI7
  • DIP: 59459
  • STRING: ENSP00000357812
• Other Databases: GeneCards:  TDRKH  Malacards:  TDRKH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071546	pi-body	ISS	cellular component
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0009566	fertilization	ISS	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0007140	male meiotic nuclear division	ISS	biological process
GO:0071547	piP-body	ISS	cellular component
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0005739	mitochondrion	ISS	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0071546	pi-body	IEA	cellular component
GO:0043046	DNA methylation involved in gamete generation	IEA	biological process
GO:0009566	fertilization	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007140	male meiotic nuclear division	IEA	biological process
GO:0071547	piP-body	IEA	cellular component
GO:0034587	piRNA metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R