Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79042
Gene name Gene Name - the full gene name approved by the HGNC.
TRNA splicing endonuclease subunit 34
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TSEN34
Synonyms (NCBI Gene) Gene synonyms aliases
LENG5, PCH2C, SEN34, SEN34L
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.42
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene result
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1246937494 ->CTGC Likely-pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025748 hsa-miR-7-5p Microarray 19073608
MIRT029248 hsa-miR-26b-5p Microarray 19088304
MIRT048138 hsa-miR-197-3p CLASH 23622248
MIRT041464 hsa-miR-193b-3p CLASH 23622248
MIRT545081 hsa-miR-5580-3p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000213 Function TRNA-intron lyase activity IBA
GO:0000213 Function TRNA-intron lyase activity IEA
GO:0000214 Component TRNA-intron endonuclease complex IEA
GO:0000379 Process TRNA-type intron splice site recognition and cleavage IBA
GO:0000379 Process TRNA-type intron splice site recognition and cleavage IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608754 15506 ENSG00000170892
Protein
UniProt ID Q9BSV6
Protein name tRNA-splicing endonuclease subunit Sen34 (EC 4.6.1.16) (Leukocyte receptor cluster member 5) (tRNA-intron endonuclease Sen34) (HsSen34)
Protein function Constitutes one of the two 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 intr
PDB 6Z9U , 7UXA , 7ZRZ , 8HMY , 8HMZ , 8ISS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01974 tRNA_int_endo 217 301 tRNA intron endonuclease, catalytic C-terminal domain Domain
Sequence
MLVVEVANGRSLVWGAEAVQALRERLGVGGRTVGALPRGPRQNSRLGLPLLLMPEEARLL
AEIGAVTLVSAPRPDSRHHSLALTSFKRQQEESFQEQSALAAEARETRRQELLEKITEGQ
AAKKQKLEQASGASSSQEAGSSQAAKEDETSDGQASGEQEEAGPSSSQAGPSNGVAPLPR
SALLVQLATARPRPVKARPLDWRVQSKDWPHAGRPAHELRYSIYRDLWERGFFLSAAGKF
GGDFLVYPGDPLRFHAHYIAQCWAPEDTIPLQDLVAAGRLGTSVRKTLLLCSPQPDGKVV
Y
TSLQWASLQ
Sequence length 310
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    tRNA processing in the nucleus
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Pontoneocerebellar hypoplasia pontocerebellar hypoplasia type 2c rs113994150, rs1246937494 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Takayasu Arteritis Takayasu arteritis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Pontocerebellar Hypoplasia Type 2 Associate 20803644
Young McKeever Squier syndrome Associate 20952379