TSEN2
Chr 3ARtRNA splicing endonuclease subunit 2
Also known as: PCH2B, SEN2, SEN2L
The protein is a subunit of tRNA splicing endonuclease that catalyzes the removal of introns during the first step of RNA splicing. Mutations cause pontocerebellar hypoplasia type 2B, an autosomal recessive neurodegenerative disorder. The pathogenic mechanism involves impaired tRNA processing leading to disrupted protein synthesis.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TSEN2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools