Entrez gene ID | | 80746 |
Official gene symbol | | TSEN2 |
Full name | | tRNA splicing endonuclease 2 homolog (S. cerevisiae) |
Aliases | | ,MGC2776,MGC4440,PCH2B,SEN2,SEN2L, |
Gene summary | | 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 pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. |
Location | | Chromosome: 3 Locus: 3p25.2 |
Gene position | | 12525931 - 12574820 Map Viewer |
Gene orientation | | plus |
Gene size | | 48890 bp |
Gene sequence |
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OMIM ID | | 608753 |