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

TSEN2 - tRNA splicing endonuclease subunit 2 Gene

中文名称:tRNA 剪接核酸内切酶亚基 2

种属: Homo sapiens

同用名: SEN2; PCH2B; SEN2L

基因 ID: 80746 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 tRNA 剪接核酸内切酶的一个亚基。这种核酸内切酶催化 RNA 剪接的第一步,即去除内含子。该基因的突变与 2 型脑桥小脑发育不全有关。已在 4 号染色体上鉴定出假基因。已发现该基因编码不同亚型的多个转录变体。[RefSeq 提供,2009 年 2 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in tRNA splicing, via endonucleolytic cleavage and ligation IDA
IDA: 通过直接分析推断
17495927 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TSEN2 蛋白结构

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.
蛋白主名 其他名称

tRNA-splicing endonuclease subunit Sen2

TSEN2 tRNA splicing endonuclease subunit

TSEN2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TSEN2 Q8NCE0 CADPS Homo sapiens A2RRN7 32296183
种属内
TSEN2 Q8NCE0 CADPS Homo sapiens A2RRN7 32296183
种属内
TSEN2 Q8NCE0 TEPSIN Homo sapiens Q96N21 32296183
种属内
TSEN2 Q8NCE0 TEPSIN Homo sapiens Q96N21 32296183
种属内
TSEN2 Q8NCE0 TEPSIN Homo sapiens Q96N21 32296183
种属内
TSEN2 Q8NCE0 CTAG2 Homo sapiens O75638-2 32296183
种属内
TSEN2 Q8NCE0 CTAG2 Homo sapiens O75638-2 32296183
种属内
TSEN2 Q8NCE0 TSEN54 Homo sapiens Q7Z6J9 33961781
种属内
TSEN2 Q8NCE0 TSEN54 Homo sapiens Q7Z6J9 25416956
种属内
TSEN2 Q8NCE0 TSEN54 Homo sapiens Q7Z6J9 32296183
种属内
TSEN2 Q8NCE0 TSEN54 Homo sapiens Q7Z6J9 25416956
种属内
TSEN2 Q8NCE0 TSEN54 Homo sapiens Q7Z6J9 32296183
种属内
TSEN2 Q8NCE0 TAX1BP1 Homo sapiens Q86VP1 32296183
种属内
TSEN2 Q8NCE0 TAX1BP1 Homo sapiens Q86VP1 32296183
种属内
TSEN2 Q8NCE0 GABPB2 Homo sapiens Q8TAK5 32296183
种属内
TSEN2 Q8NCE0 GABPB2 Homo sapiens Q8TAK5 32296183
种属内
TSEN2 Q8NCE0 GABPB2 Homo sapiens Q8TAK5 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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