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TSEN15

Chr 1q25.3

tRNA splicing endonuclease subunit 15

MANE:
ENST00000645668.2
OMIM: 608756 ↗NCBI: 116461 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal

  • Ataxia and cerebellar anomalies - narrow panel

    BIALLELIC, autosomal or pseudoautosomal

  • Cerebellar hypoplasia

    BIALLELIC, autosomal or pseudoautosomal

  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

  • Hereditary ataxia with onset in adulthood

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • pontocerebellar hypoplasia, type 2F

    0.65

  • pontocerebellar hypoplasia type 2

    0.60

  • osteoarthritis, hip

    0.51

  • Abnormality of the skeletal system

    0.47

  • type 2 diabetes mellitus

    0.45

  • total hip arthroplasty

    0.41

  • smoking behavior

    0.41

  • prostate carcinoma

    0.39

  • osteoarthritis

    0.35

  • diabetes mellitus

    0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

tRNA-splicing endonuclease subunit Sen15

Non-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 (PubMed:15109492, PubMed:27392077). 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. 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 (PubMed:15109492)

Diseases associated with TSEN15

Curated MONDO disease pages that list TSEN15 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.