• Gene id: 80746

Gene Summary

• Gene Symbol: TSEN2   Gene   UCSC   Ensembl
• Aliases: PCH2B, SEN2, SEN2L
• Gene name: tRNA splicing endonuclease subunit 2
• Alternate names: tRNA-splicing endonuclease subunit Sen2, TSEN2 tRNA splicing endonuclease subunit, hsSen2, tRNA-intron endonuclease Sen2,
• Gene location: 3p25.2 (12484431: 12539623)     Exons: 19     NC_000003.12
• Gene summary(Entrez): This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseu
• OMIM: 606922

Protein Summary

• Protein general information: Q8NCE0  
  • Name: tRNA splicing endonuclease subunit Sen2 (EC 4.6.1.16) (tRNA intron endonuclease Sen2) (HsSen2)
  • Length: 465  
  • Mass: 53247
  • Tissue specificity: Isoform 1 and isoform 2 are widely expressed at very low level. {ECO
• Sequence:

  MAEAVFHAPKRKRRVYETYESPLPIPFGQDHGPLKEFKIFRAEMINNNVIVRNAEDIEQLYGKGYFGKGILSRSR
  PSFTISDPKLVAKWKDMKTNMPIITSKRYQHSVEWAAELMRRQGQDESTVRRILKDYTKPLEHPPVKRNEEAQVH
  DKLNSGMVSNMEGTAGGERPSVVNGDSGKSGGVGDPREPLGCLQEGSGCHPTTESFEKSVREDASPLPHVCCCKQ
  DALILQRGLHHEDGSQHIGLLHPGDRGPDHEYVLVEEAECAMSEREAAPNEELVQRNRLICRRNPYRIFEYLQLS
  LEEAFFLVYALGCLSIYYEKEPLTIVKLWKAFTVVQPTFRTTYMAYHYFRSKGWVPKVGLKYGTDLLLYRKGPPF
  YHASYSVIIELVDDHFEGSLRRPLSWKSLAALSRVSVNVSKELMLCYLIKPSTMTDKEMESPECMKRIKVQEVIL
  SRWVSSRERSDQDDL

• Structural information:
  • Interpro: IPR011856  IPR036167  IPR006677  IPR006678  IPR006676   IPR016589  
  • STRING: ENSP00000284995
• Other Databases: GeneCards:  TSEN2  Malacards:  TSEN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000213	tRNA-intron endonuclease activity	IBA	molecular function
GO:0000214	tRNA-intron endonuclease complex	IBA	cellular component
GO:0000379	tRNA-type intron splice site recognition and cleavage	IBA	biological process
GO:0006388	tRNA splicing, via endonucleolytic cleavage and ligation	IDA	biological process
GO:0000213	tRNA-intron endonuclease activity	IEA	molecular function
GO:0000214	tRNA-intron endonuclease complex	IEA	cellular component
GO:0004518	nuclease activity	IEA	molecular function
GO:0006388	tRNA splicing, via endonucleolytic cleavage and ligation	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006388	tRNA splicing, via endonucleolytic cleavage and ligation	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090501	RNA phosphodiester bond hydrolysis	IEA	biological process
GO:0090501	RNA phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process

Diseases

Associated diseases	References
Pontocerebellar hypoplasia	KEGG:H00897
Pontocerebellar hypoplasia	KEGG:H00897
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