tRNA splicing endonuclease subunit 2
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalCerebellar hypoplasia
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal+3 more panels — install the extension to see the full list inline on any page.
pontocerebellar hypoplasia type 2B
pontocerebellar hypoplasia
pontocerebellar hypoplasia type 2
Non-syndromic pontocerebellar hypoplasia
neurodegenerative disease
hereditary disease
hemolytic-uremic syndrome
metabolic disease
respiratory tract infectious disorder
Alzheimer disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
tRNA-splicing endonuclease subunit Sen2
Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. Isoform 1 probably carries the active site for 5'-splice site cleavage. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3'-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events. Isoform 2 is responsible for processing a yet unknown RNA substrate. The complex containing isoform 2 is not able to cleave pre-tRNAs properly, although it retains endonucleolytic activity
TSEN2 · Q8NCE0
Mean pLDDT
72.1/ 100
Confident
465 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
