• Gene id: 90121

Gene Summary

• Gene Symbol: TSR2   Gene   UCSC   Ensembl
• Aliases: DBA14, DT1P1A10, WGG1
• Gene name: TSR2 ribosome maturation factor
• Alternate names: pre-rRNA-processing protein TSR2 homolog, TSR2, 20S rRNA accumulation, homolog, WGG motif containing 1, escortin,
• Gene location: Xp11.22 (54440374: 54448031)     Exons: 5     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene appears to repress the transcription of NF-kappaB and may be involved in apoptosis. Defects in this gene are a cause of Diamond-Blackfan anemia. [provided by RefSeq, Oct 2016]
• OMIM: 188860

Protein Summary

• Protein general information: Q969E8  
  • Name: Pre rRNA processing protein TSR2 homolog
  • Length: 191  
  • Mass: 20894
• Sequence:

  MAGAAEDARALFRAGVCAALEAWPALQIAVENGFGGVHSQEKAKWLGGAVEDYFMRNADLELDEVEDFLGELLTN
  EFDTVVEDGSLPQVSQQLQTMFHHFQRGDGAALREMASCITQRKCKVTATALKTARETDEDEDDVDSVEEMEVTA
  TNDGAATDGVCPQPEPSDPDAQTIKEEDIVEDGWTIVRRKK

• Structural information:
  • Interpro: IPR019398  
  • STRING: ENSP00000364293
• Other Databases: GeneCards:  TSR2  Malacards:  TSR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000462	maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	biological process
GO:0006364	rRNA processing	IEA	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: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: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: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: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: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: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

Diseases

Associated diseases	References
Diamond-Blackfan anemia	KEGG:H00237
Diamond-Blackfan anemia	KEGG:H00237
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