2. Gene
  3. TSEN34 - tRNA splicing endonuclease subunit 34 Gene

TSEN34 - tRNA splicing endonuclease subunit 34 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as LENG5; PCH2C; SEN34; SEN34L

Gene ID: 79042 | Gene type: protein coding

About TSEN34

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:54,189,441-54,194,532 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 174 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 9.1), prostate (RPKM 8.4) and 25 other tissues.

Summary

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 results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009]

TSEN34 Products(5)

mRNA Protein Name
NM_001077446.4 NP_001070914.1 tRNA-splicing endonuclease subunit Sen34 isoform 1
NM_001282332.2 NP_001269261.1 tRNA-splicing endonuclease subunit Sen34 isoform 1
NM_001282333.2 NP_001269262.2 tRNA-splicing endonuclease subunit Sen34 isoform 2
NM_001386740.1 NP_001373669.1 tRNA-splicing endonuclease subunit Sen34 isoform 1
NM_024075.5 NP_076980.2 tRNA-splicing endonuclease subunit Sen34 isoform 1

TSEN34 Protein Structure

tRNA_int_endo

tRNA_int_endo: tRNA intron endonuclease, catalytic C-terminal domain (218 - 301)

  • 0
  • 100
  • 200
  • 310 a.a.
Protein Preferred Names Protein Names

tRNA-splicing endonuclease subunit Sen34

CTD-3093M3.1

Related Diseases

Diseases Alias
Pontocerebellar Hypoplasia, Type 2c

Pontocerebellar Hypoplasia Type 2c

PCH2C

Pontocerebellar Hypoplasia 2c

Hypoplasia, Pontocerebellar, Type 2c
Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2

Pontocerebellar Hypoplasia Type 2e

Pch2

PCH2E

Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy

Pontocerebellar Hypoplasia 2e

Pcca2

Progressive Cerebello-Cerebral Atrophy Type 2

Doid:0112328

Hypoplasia, Pontocerebellar, Type 2e

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2a
Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia, Type 2f

PCH2F

Pontocerebellar Hypoplasia Type 2f

Pontocerebellar Hypoplasia 2f

Doid:0112329

Hypoplasia, Pontocerebellar, Type 2f
Pontocerebellar Hypoplasia, Type 6

Pontocerebellar Hypoplasia Type 6

PCH6

Fatal Infantile Encephalopathy With Mitochondrial Respiratory Chain Defects

Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects

Encephalopathy Fatal Infantile With Mitochondrial Respiratory Chain Defects

Pontocerebellar Hypoplasia 6

Hypoplasia, Pontocerebellar, Type 6
Pontocerebellar Hypoplasia, Type 2a

Pontocerebellar Hypoplasia Type 2a

PCH2A

Pch2

Pontocerebellar Hypoplasia With Progressive Cerebral Atrophy

Volendam Neurodegenerative Disease

Pontocerebellar Hypoplasia 2a

Hypoplasia, Pontocerebellar, Type 2a
Pontocerebellar Hypoplasia, Type 1d

PCH1D

Pontocerebellar Hypoplasia Type 1d

Pontocerebellar Hypoplasia 1d

Doid:0112323

Hypoplasia, Pontocerebellar, Type 1d
Pontocerebellar Hypoplasia, Type 4

Pontocerebellar Hypoplasia Type 4

PCH4

Olivopontocerebellar Hypoplasia

Encephalopathy Fatal Infantile With Olivopontocerebellar Hypoplasia

Encephalopathy, Fatal Infantile, With Olivopontocerebellar Hypoplasia

Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia

Pontocerebellar Hypoplasia 4

Young Mckeever Squier Syndrome

Hypoplasia, Pontocerebellar, Type 4
Trichohepatoenteric Syndrome 1

Trichohepatoenteric Syndrome

Syndromic Diarrhea

Tricho-Hepato-Enteric Syndrome

Sd/The

Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome

THES1

Phenotypic Diarrhea

Thes

Phenotypic Diarrhea Of Infancy

Diarrhea, Syndromic

Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa

Intractable Diarrhea With Phenotypic Anomalies

Syndromatic Diarrhea

Fatal Infantile Diarrhea With Trichorrhexis Nodosa
Pontocerebellar Hypoplasia, Type 1e

Pontocerebellar Hypoplasia Type 1

PCH1E

Norman Disease

Pch1

Pontocerebellar Hypoplasia With Anterior Horn Cell Disease

Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy

Pontocerebellar Hypoplasia Type 1e

Pontocerebellar Hypoplasia 1e

Doid:0112322

Doid:0112330
Peho Syndrome

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy

Infantile Cerebellooptic Atrophy

PEHO

Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy

Progressive Encephalopathy-Optic Atrophy Syndrome
Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome
Polyhydramnios
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles

Cfeom

Feom

Congenital External Ophthalmoplegia

Congenital Fibrosis Syndrome

General Fibrosis Syndrome
Leukoencephalopathy With Vanishing White Matter

Cree Leukoencephalopathy

Vanishing White Matter Disease

Ovarioleukodystrophy

Vanishing White Matter Leukodystrophy

Childhood Ataxia With Central Nervous System Hypomyelinization

Cach

Cach Syndrome

Myelinosis Centralis Diffusa

VWM

Cle

Childhood Ataxia With Central Nervous System Hypomyelination

Childhood Ataxia With Diffuse Central Nervous System Hypomyelination

Cach/Vwm

Cach/Vwm Syndrome

Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter

Cree Leukoencehalopathy

Late Infantile Cach Syndrome

Juvenile Or Adult Cach Syndrome

Congenital Or Early Infantile Cach Syndrome

Leukodystrophy With Vanishing White Matter
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS15139 TSEN34 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus TSEN34 VGNC VGNC:66610
Bos taurus TSEN34 VGNC VGNC:36411
Canis familiaris TSEN34 VGNC VGNC:47896
Mus musculus TSEN34 MGD MGI:1913328
Rattus norvegicus TSEN34 RGD RGD:1359564
Macaca mulatta TSEN34 VGNC VGNC:78974