TSEN34 Gene - tRNA Splicing Endonuclease Subunit 34
Essential component of the tRNA splicing endonuclease complex; mutations linked to pontocerebellar hypoplasia type 2C
Gene Information Card
| Symbol | TSEN34 |
|---|---|
| Full Name | tRNA splicing endonuclease subunit 34 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 79042 ncbi.nlm.nih.gov/gene/79042 |
| Ensembl ID | ENSG00000170892 |
| UniProt ID | Q9BSV6 |
| OMIM ID | 608754 |
| HGNC ID | 15507 |
| Aliases | SEN34, LENG5, PCH2C |
Description
The TSEN34 gene encodes the 34 kDa 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 TSEN34 are associated with pontocerebellar hypoplasia type 2C (PCH2C), a severe neurodegenerative disorder characterized by impaired brain development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pontocerebellar hypoplasia type 2C (PCH2C) | Loss-of-function mutations in TSEN34 impair tRNA splicing, leading to defective tRNA maturation and subsequent neuronal cell death, particularly affecting the cerebellum and pons. | ClinVar, OMIM |
| Microcephaly | Associated with PCH2C; reduced brain growth due to disrupted tRNA processing and protein synthesis. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Heart | 8.1 | Low |
| Liver | 6.3 | Low |
| Kidney | 7.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney cells; high expression |
| HeLa | 12.3 | Cervical cancer cells; moderate expression |
| SH-SY5Y | 14.1 | Neuroblastoma cells; relevant for neuronal studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.95A>G (p.Asp32Gly) | Missense | Rare | Loss of function; associated with PCH2C |
| c.307C>T (p.Arg103Trp) | Missense | Rare | Loss of function; associated with PCH2C |
| c.494G>A (p.Arg165His) | Missense | Rare | Loss of function; associated with PCH2C |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Asp32Gly, p.Arg103Trp, p.Arg165His) impair tRNA splicing endonuclease activity, leading to defective tRNA processing and pontocerebellar hypoplasia type 2C.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • tRNA splicing | • via endonucleolytic cleavage and ligation |
| • tRNA-type intron endonuclease activity | • nucleus |
| • cytoplasm | • tRNA processing |
Pathways
• tRNA splicing
• tRNA processing in the nucleus
Protein Summary
The TSEN34 protein is a 34 kDa subunit of the tRNA splicing endonuclease complex. It is involved in the endonucleolytic cleavage of introns from pre-tRNAs, a critical step in tRNA maturation. The protein localizes to the nucleus and cytoplasm and is essential for cellular protein synthesis. Mutations in TSEN34 disrupt this process, leading to neurodegenerative disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSEN34 Knockout HEK293 Cell Line | EDJ-KQ15952 | Human | 79042 | Details Get a Quote |
| TSEN34 Knockout A-549 Cell Line | EDJ-KQ46979 | Human | 79042 | Details Get a Quote |
| TSEN34 Knockout HeLa Cell Line | EDJ-KQ46981 | Human | 79042 | Details Get a Quote |
| TSEN34 Knockout HCT 116 Cell Line | EDJ-KQ49196 | Human | 79042 | Details Get a Quote |
