2. Gene
  3. TSEN2 - tRNA splicing endonuclease subunit 2 Gene

TSEN2 - tRNA splicing endonuclease subunit 2 Gene

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

Also known as SEN2; PCH2B; SEN2L

Gene ID: 80746 | Gene type: protein coding

About TSEN2

Cytogenetic location: 3p25.2 Genomic coordinates (GRCh38): 3:12,480,231-12,539,624 (from NCBI)

This gene has 57 transcripts (splice variants), 188 orthologues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 2.1), thyroid (RPKM 2.1) and 25 other tissues.

Summary

This gene encodes one of the subunits of the tRNA splicing Endonuclease. This Endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]

TSEN2 Products(7)

mRNA Protein Name
NM_001145392.2 NP_001138864.1 tRNA-splicing endonuclease subunit Sen2 isoform 1
NM_001145393.3 NP_001138865.1 tRNA-splicing endonuclease subunit Sen2 isoform 2
NM_001145394.2 NP_001138866.1 tRNA-splicing endonuclease subunit Sen2 isoform 3
NM_001321277.2 NP_001308206.1 tRNA-splicing endonuclease subunit Sen2 isoform 1
NM_001321278.2 NP_001308207.1 tRNA-splicing endonuclease subunit Sen2 isoform 5
NM_001321279.2 NP_001308208.1 tRNA-splicing endonuclease subunit Sen2 isoform 2
NM_025265.4 NP_079541.1 tRNA-splicing endonuclease subunit Sen2 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence Reference Source
involved in tRNA splicing, via endonucleolytic cleavage and ligation IDA
IDA: Inferred from direct assay
17495927 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TSEN2 Protein Structure

tRNA_int_endo_N

tRNA_int_endo_N: tRNA intron endonuclease, N-terminal domain (281 - 329)

tRNA_int_endo

tRNA_int_endo: tRNA intron endonuclease, catalytic C-terminal domain (339 - 428)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 465 a.a.
Protein Preferred Names Protein Names

tRNA-splicing endonuclease subunit Sen2

TSEN2 tRNA splicing endonuclease subunit

TSEN2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
TSEN2 Q8NCE0 CADPS Homo sapiens A2RRN7
Y2H Prey Pooling
32296183
Intra
TSEN2 Q8NCE0 CADPS Homo sapiens A2RRN7
Y2H Array
32296183
Intra
TSEN2 Q8NCE0 TEPSIN Homo sapiens Q96N21
Validated Y2H
32296183
Intra
TSEN2 Q8NCE0 TEPSIN Homo sapiens Q96N21
Y2H Prey Pooling
32296183
Intra
TSEN2 Q8NCE0 TEPSIN Homo sapiens Q96N21
Y2H Array
32296183
Intra
TSEN2 Q8NCE0 CTAG2 Homo sapiens O75638-2
Y2H Array
32296183
Intra
TSEN2 Q8NCE0 CTAG2 Homo sapiens O75638-2
Y2H Prey Pooling
32296183
Intra
TSEN2 Q8NCE0 TSEN54 Homo sapiens Q7Z6J9
Anti Tag CoIP
33961781
Intra
TSEN2 Q8NCE0 TSEN54 Homo sapiens Q7Z6J9
Validated Y2H
25416956
Intra
TSEN2 Q8NCE0 TSEN54 Homo sapiens Q7Z6J9
Y2H Array
32296183
Intra
TSEN2 Q8NCE0 TSEN54 Homo sapiens Q7Z6J9
Y2H Prey Pooling
25416956
Intra
TSEN2 Q8NCE0 TSEN54 Homo sapiens Q7Z6J9
Y2H Prey Pooling
32296183
Intra
TSEN2 Q8NCE0 TAX1BP1 Homo sapiens Q86VP1
Y2H Prey Pooling
32296183
Intra
TSEN2 Q8NCE0 TAX1BP1 Homo sapiens Q86VP1
Y2H Array
32296183
Intra
TSEN2 Q8NCE0 GABPB2 Homo sapiens Q8TAK5
Validated Y2H
32296183
Intra
TSEN2 Q8NCE0 GABPB2 Homo sapiens Q8TAK5
Y2H Prey Pooling
32296183
Intra
TSEN2 Q8NCE0 GABPB2 Homo sapiens Q8TAK5
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Pontocerebellar Hypoplasia, Type 2b

Pontocerebellar Hypoplasia Type 2b

PCH2B

Pontocerebellar Hypoplasia 2b

Hypoplasia, Pontocerebellar, Type 2b
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
Non-Syndromic Pontocerebellar Hypoplasia

Pontoneocerebellar Hypoplasia

Pch

Pontoneocerebellar Atrophy
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 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
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
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
Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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-RS15138 TSEN2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus TSEN2 VGNC VGNC:80748
Macaca mulatta TSEN2 VGNC VGNC:82707
Rattus norvegicus TSEN2 RGD RGD:1309946
Mus musculus TSEN2 MGD MGI:2141599
Bos taurus TSEN2 VGNC VGNC:107003