TSEN2 - tRNA splicing endonuclease subunit 2 Gene

Also Known as SEN2; PCH2B; SEN2L

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80746

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	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

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	References
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

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 Set	/	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
Others	TSEN2	NCBI