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9 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TSEN34
tRNA splicing endonuclease subunit 34
Chromosome 19 Β· 19q13.42
NCBI Gene: 79042Ensembl: ENSG00000170892HGNC: HGNC:15506UniProt: A0A590UJW4
43PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmtRNA-type intron splice site recognition and cleavagetRNA-intron lyase activitynucleoluspontocerebellar hypoplasia type 2Cpontocerebellar hypoplasiapontocerebellar hypoplasia type 2Non-syndromic pontocerebellar hypoplasia
✦AI Summary

TSEN34 (tRNA splicing endonuclease subunit 34) is one of two catalytic subunits of the tRNA splicing endonuclease (TSEN) complex, which is essential for pre-tRNA maturation in eukaryotes 1. TSEN34 specifically catalyzes 3'-splice site cleavage, cleaving precursor-tRNA at invariant positions to release the intron and generate tRNA half-molecules with 2',3'-cyclic phosphate and 5'-OH termini 2. The TSEN complex recognizes the mature tRNA body through conserved structural elements in TSEN34, TSEN54, and TSEN2, positioning the anticodon stem correctly for catalysis via a molecular ruler mechanism 1. Notably, TSEN34 also functions in mRNA 3'-end processing, linking pre-tRNA splicing to pre-mRNA maturation 3. Clinically, recessive TSEN34 mutations cause pontocerebellar hypoplasia (PCH), a neurodegenerative disorder characterized by cerebellar and pontine hypoplasia, microcephaly, developmental delay, and dyskinesia 45. Mutations in TSEN34 occur less frequently than TSEN54 mutations in PCH2 but produce similar phenotypes including progressive microcephaly and variable motor impairment 6. The functional importance of TSEN34 in tRNA biogenesis appears critical for proper brain development, as defective TSEN34 leads to altered tRNA transcripts and severe neurological dysfunction 7.

Sources cited
1
TSEN34 is a catalytic subunit of TSEN complex catalyzing 3'-splice site cleavage; structural mechanism of pre-tRNA recognition and cleavage
PMID: 37028420
2
TSEN34 structural elements cooperatively recognize mature tRNA body and position splice sites for catalysis
PMID: 37770519
3
TSEN34 is required as core subunit for TSEN complex function; TSEN complex functions in both tRNA splicing and pre-mRNA processing
PMID: 32476018
4
TSEN34 mutations cause pontocerebellar hypoplasia type 2 with cerebellar hypoplasia, developmental impairment, and early death
PMID: 20803644
5
TSEN34 mutations associated with pontocerebellar hypoplasia types 2 and 4 with variable neurological phenotypes
PMID: 20952379
6
Mutations in TSEN34 cause pontocerebellar hypoplasia with progressive microcephaly and developmental delay
PMID: 27392077
7
TSEN34 function is critical for proper tRNA biogenesis; defective tRNA biogenesis associates with severe neurological disease
PMID: 34964109
8
TSEN34 mutations cause pontocerebellar hypoplasia type 2 characterized by cerebellar hypoplasia and microcephaly
PMID: 23562994
Disease Associationsβ“˜21
pontocerebellar hypoplasia type 2COpen Targets
0.65Moderate
pontocerebellar hypoplasiaOpen Targets
0.51Moderate
pontocerebellar hypoplasia type 2Open Targets
0.37Weak
Non-syndromic pontocerebellar hypoplasiaOpen Targets
0.19Weak
asthmaOpen Targets
0.02Suggestive
intellectual disability, autosomal recessive 57Open Targets
0.01Suggestive
IGA glomerulonephritisOpen Targets
0.00Suggestive
COVID-19Open Targets
0.00Suggestive
microcephalyOpen Targets
0.00Suggestive
neurodegenerative diseaseOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
squamous cell lung carcinomaOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
urinary bladder carcinomaOpen Targets
0.00Suggestive
Pontocerebellar hypoplasia 2CUniProt
Pathogenic Variants2
NM_001077446.4(TSEN34):c.862_865dup (p.Leu289fs)Likely pathogenic
Pontocerebellar hypoplasia type 2C
β˜…β˜†β˜†β˜†2019β†’ Residue 289
NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp)Pathogenic
Pontocerebellar hypoplasia type 2C
β˜†β˜†β˜†β˜†2008β†’ Residue 58
View on ClinVar β†—
Related Genes
CSTF2Protein interaction100%CPSF4Protein interaction100%CPSF1Protein interaction100%RARS2Protein interaction100%TSEN15Protein interaction89%TSEN54Protein interaction84%
Tissue Expression6 tissues
Ovary
100%
Liver
88%
Lung
87%
Brain
53%
Heart
48%
Bone Marrow
37%
Gene Interaction Network
Click a node to explore
TSEN34CSTF2CPSF4CPSF1RARS2TSEN15TSEN54
PROTEIN STRUCTURE
Preparing viewer…
PDB6Z9U Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.16LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.83 [0.60–1.16]
RankingsWhere TSEN34 stands among ~20K protein-coding genes
  • #9,814of 20,598
    Most Researched43
  • #4,461of 5,498
    Most Pathogenic Variants2
  • #12,108of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedTSEN34
Sources retrieved9 papers
Response timeβ€”
πŸ“„ Sources
9β–Ό
1
Structural basis of pre-tRNA intron removal by human tRNA splicing endonuclease.
PMID: 37028420
Mol Cell Β· 2023
1.00
2
Recognition and cleavage mechanism of intron-containing pre-tRNA by human TSEN endonuclease complex.
PMID: 37770519
Nat Commun Β· 2023
0.89
3
Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
PMID: 20803644
Am J Med Genet A Β· 2010
0.78
4
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
PMID: 20952379
Brain Β· 2011
0.67
5
Reconstitution of the human tRNA splicing endonuclease complex: insight into the regulation of pre-tRNA cleavage.
PMID: 32476018
Nucleic Acids Res Β· 2020
0.56