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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TSEN15
tRNA splicing endonuclease subunit 15
Chromosome 1 Β· 1q25.3
NCBI Gene: 116461Ensembl: ENSG00000198860.14HGNC: HGNC:16791UniProt: A0A2R8YDU8
28PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
tRNA-type intron splice site recognition and cleavageprotein bindingnucleoplasmnucleoluspontocerebellar hypoplasia, type 2Fosteoarthritis, hipAbnormality of the skeletal systemtype 2 diabetes mellitus
✦AI Summary

TSEN15 is a non-catalytic subunit of the tRNA splicing endonuclease (TSEN) complex, which mediates intron removal from precursor-tRNA molecules 1. The TSEN complex, comprising TSEN2, TSEN15, TSEN34, and TSEN54, recognizes the mature domain of pre-tRNA and positions splice sites at the 5' and 3' ends into catalytic centers, cleaving introns while producing tRNA half-molecules with 2',3' cyclic phosphate and 5'-OH termini 1. The complex accommodates varying intron sequences through a molecular ruler mechanism independent of intron-specific sequences 1. Beyond tRNA processing, TSEN associates with pre-mRNA 3'-end processing factors, linking pre-tRNA splicing to mRNA maturation. Mutations in TSEN15 cause pontocerebellar hypoplasia 2F (PCH2F), characterized by progressive microcephaly, developmental delay, and intellectual disability 2. Disease-associated mutations destabilize TSEN15 protein and disrupt complex assembly, reducing pre-tRNA cleavage activity and generating imbalanced pre-tRNA pools in patient-derived cells 3. TSEN15 variants have also been associated with familial short stature 4. These findings establish TSEN15 as essential for proper brain development through its critical role in tRNA biogenesis.

Sources cited
1
TSEN15 is a non-catalytic subunit of TSEN complex; complex structure and mechanism of pre-tRNA cleavage via molecular ruler mechanism
PMID: 37028420
2
Homozygous TSEN15 mutations cause pontocerebellar hypoplasia 2F with progressive microcephaly and developmental delay; mutations reduce protein level and tRNA cleavage activity
PMID: 27392077
3
TSEN15 mutations cause assembly defects and reduced pre-tRNA processing activity, contributing to pontocerebellar hypoplasia pathogenesis
PMID: 34584079
4
TSEN15 is associated with familial short stature through genetic polymorphisms affecting development
PMID: 28744006
5
TSEN15 identified as disease gene in neurogenetic disorders through whole-exome sequencing
PMID: 25558065
Disease Associationsβ“˜21
pontocerebellar hypoplasia, type 2FOpen Targets
0.65Moderate
osteoarthritis, hipOpen Targets
0.51Moderate
Abnormality of the skeletal systemOpen Targets
0.46Moderate
type 2 diabetes mellitusOpen Targets
0.44Moderate
total hip arthroplastyOpen Targets
0.43Moderate
smoking behaviorOpen Targets
0.40Moderate
prostate carcinomaOpen Targets
0.38Weak
pontocerebellar hypoplasia type 2Open Targets
0.37Weak
diabetes mellitusOpen Targets
0.36Weak
osteoarthritisOpen Targets
0.34Weak
diabetic neuropathyOpen Targets
0.32Weak
Global developmental delayOpen Targets
0.26Weak
Primary microcephalyOpen Targets
0.26Weak
SeizureOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
neurodegenerative diseaseOpen Targets
0.17Weak
medical procedureOpen Targets
0.17Weak
ovarian neoplasmOpen Targets
0.17Weak
osteoarthritis, kneeOpen Targets
0.16Weak
total joint arthroplastyOpen Targets
0.15Weak
Pontocerebellar hypoplasia 2FUniProt
Pathogenic Variants2
NM_052965.4(TSEN15):c.346C>T (p.His116Tyr)Likely pathogenic
Pontocerebellar hypoplasia, type 2F
β˜…β˜†β˜†β˜†2020β†’ Residue 116
NM_052965.4(TSEN15):c.455A>G (p.Tyr152Cys)Pathogenic
Pontocerebellar hypoplasia, type 2F
β˜†β˜†β˜†β˜†2016β†’ Residue 152
View on ClinVar β†—
Related Genes
TSEN54Protein interaction100%CSTF2Protein interaction100%CPSF4Protein interaction100%CPSF1Protein interaction100%TSEN34Protein interaction89%TSEN2Protein interaction74%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
95%
Heart
78%
Lung
55%
Liver
42%
Ovary
36%
Gene Interaction Network
Click a node to explore
TSEN15TSEN54CSTF2CPSF4CPSF1TSEN34TSEN2
PROTEIN STRUCTURE
Preparing viewer…
PDB6Z9U Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.03Tolerant
Observed/Expected LoF0.59 [0.34–1.12]
RankingsWhere TSEN15 stands among ~20K protein-coding genes
  • #12,475of 20,598
    Most Researched28
  • #4,524of 5,498
    Most Pathogenic Variants2
  • #11,475of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedTSEN15
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
PMID: 25558065
Cell Rep Β· 2015
1.00
2
Structural basis of pre-tRNA intron removal by human tRNA splicing endonuclease.
PMID: 37028420
Mol Cell Β· 2023
0.90
3
A susceptibility gene signature for ERBB2-driven mammary tumour development and metastasis in collaborative cross mice.
PMID: 39067134
EBioMedicine Β· 2024
0.80
4
Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia.
PMID: 34584079
Nat Commun Β· 2021
0.70
5
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
PMID: 27392077
Am J Hum Genet Β· 2016
0.60