• Gene id: 26995

Gene Summary

• Gene Symbol: TRUB2   Gene   UCSC   Ensembl
• Aliases: CLONE24922
• Gene name: TruB pseudouridine synthase family member 2
• Alternate names: mitochondrial mRNA pseudouridine synthase TRUB2, TruB pseudouridine (psi) synthase family member 2, TruB pseudouridine (psi) synthase homolog 2, probable tRNA pseudouridine synthase 2,
• Gene location: 9q34.11 (128322446: 128305158)     Exons: 10     NC_000009.12
• Gene summary(Entrez): Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]
• OMIM: 601089

Protein Summary

• Protein general information: O95900  
  • Name: Mitochondrial mRNA pseudouridine synthase TRUB2 (EC 5.4.99. )
  • Length: 331  
  • Mass: 36694
• Sequence:

  MGSAGLSRLHGLFAVYKPPGLKWKHLRDTVELQLLKGLNARKPPAPKQRVRFLLGPMEGSEEKELTLTATSVPSF
  INHPLVCGPAFAHLKVGVGHRLDAQASGVLVLGVGHGCRLLTDMYNAHLTKDYTVRGLLGKATDDFREDGRLVEK
  TTYDHVTREKLDRILAVIQGSHQKALVMYSNLDLKTQEAYEMAVRGLIRPMNKSPMLITGIRCLYFAPPEFLLEV
  QCMHETQKELRKLVHEIGLELKTTAVCTQVRRTRDGFFTLDSALLRTQWDLTNIQDAIRAATPQVAAELEKSLSP
  GLDTKQLPSPGWSWDSQGPSSTLGLERGAGQ

• Structural information:
  • Interpro: IPR020103  IPR002501  IPR039048  
  • STRING: ENSP00000361982
• Other Databases: GeneCards:  TRUB2  Malacards:  TRUB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070131	positive regulation of mitochondrial translation	IMP	biological process
GO:0001522	pseudouridine synthesis	IEA	biological process
GO:0006396	RNA processing	IEA	biological process
GO:0009451	RNA modification	IEA	biological process
GO:0009982	pseudouridine synthase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881