tRNA Splicing Endonuclease, Subunit 2

Alternative Names

  • TSEN2
  • tRNA Splicing Endonuclease 2, S. cerevisiae, Homolog of
  • SEN2, Yeast, Homolog of
  • SEN2
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OMIM Number

608753

NCBI Gene ID

80746

Uniprot ID

Q8NCE0

Length

55,169 bases

No. of Exons

21

No. of isoforms

5

Protein Name

tRNA-splicing endonuclease subunit Sen2

Molecular Mass

53247 Da

Amino Acid Count

465

Genomic Location

chr3:12,484,455-12,539,623

Gene Map Locus
3p25.2

Description

The TSEN2 gene encodes a catalytic subunit of the heterotetrameric tRNA splicing endonuclease complex, which is involved in the maturation of tRNA molecules. The other catalytic subunit is encoded by TSEN34, and the 2 structural subunits are encoded by TSEN54 and TSEN15. tRNA splicing is a fundamental process required for cell growth and division. SEN2 is a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns, the first step in tRNA splicing. [From OMIM]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_025265.4:c.1333G>ALebanonchr3:12531654Likely PathogenicPontocerebellar Hypoplasia, Type 2BNG_011521.2:g.52223G>T; NM_025265.4:c.1333G>A; NP_001138864.1:p.Val445Phe535642181
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