TSEN15 Gene: tRNA Splicing Endonuclease Subunit 15
Essential component of the tRNA splicing endonuclease complex; associated with pontocerebellar hypoplasia type 2F
Gene Information Card
| Symbol | TSEN15 |
|---|---|
| Full Name | tRNA splicing endonuclease subunit 15 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 29956 ncbi.nlm.nih.gov/gene/29956 |
| Ensembl ID | ENSG00000198890 |
| UniProt ID | Q8WW01 |
| OMIM ID | 608756 |
| HGNC ID | 16791 |
| Aliases | C1orf19, SEN15, SEN2L |
Description
TSEN15 encodes a subunit of the tRNA splicing endonuclease complex, which is responsible for the removal of introns from precursor tRNAs. This complex is essential for proper tRNA maturation and function. Mutations in TSEN15 cause pontocerebellar hypoplasia type 2F, a neurodegenerative disorder characterized by microcephaly, severe motor and cognitive impairment, and cerebellar atrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pontocerebellar hypoplasia type 2F (PCH2F) | Loss-of-function mutations in TSEN15 impair tRNA splicing, leading to defective tRNA maturation and subsequent neuronal degeneration, particularly in the cerebellum and pons. | OMIM #617026; ClinVar; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebellum | 15.3 | Medium |
| Testis | 10.2 | Medium |
| Heart | 8.1 | Low |
| Liver | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Moderate expression |
| SH-SY5Y | 11.5 | Neuronal cell line |
| HeLa | 9.8 | Low expression |
| K562 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.335G>A (p.Arg112Gln) | Missense | Rare | Impaired tRNA splicing activity |
| c.499C>T (p.Arg167*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations in TSEN15 are loss-of-function, leading to reduced or absent tRNA splicing endonuclease activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TSEN15.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for TSEN15.
View complete mutation data：
Gene Ontology (GO)
| • tRNA splicing | • tRNA processing |
| • endonuclease activity | • nucleus |
| • cytoplasm | • tRNA-intron endonuclease complex |
Pathways
• tRNA splicing
• tRNA processing in the nucleus
Protein Summary
TSEN15 is a 164-amino acid protein that forms part of the tRNA splicing endonuclease complex (TSEN complex) together with TSEN2, TSEN34, and TSEN54. This complex catalyzes the removal of introns from pre-tRNAs, a critical step in tRNA maturation. The protein localizes to the nucleus and is ubiquitously expressed, with highest levels in brain and testis. Defects in TSEN15 lead to pontocerebellar hypoplasia type 2F.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSEN15 Knockout HEK293 Cell Line | EDJ-KQ7571 | Human | 116461 | Details Get a Quote |
| TSEN15 Knockout A-549 Cell Line | EDJ-KQ32882 | Human | 116461 | Details Get a Quote |
| TSEN15 Knockout HCT 116 Cell Line | EDJ-KQ32883 | Human | 116461 | Details Get a Quote |
| TSEN15 Knockout HeLa Cell Line | EDJ-KQ32884 | Human | 116461 | Details Get a Quote |
