TSEN34 - tRNA splicing endonuclease subunit 34 Gene

Also Known as LENG5; PCH2C; SEN34; SEN34L

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79042

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

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

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 Set	/	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
Others	TSEN34	NCBI