TOR1AIP2 - torsin 1A interacting protein 2 Gene

中文名称：torsin 1A 相互作用蛋白 2

种属: Homo sapiens

同用名: NET9; LULL1; IFRG15

基因 ID: 163590 | 基因类型: protein coding

关于 TOR1AIP2

Cytogenetic location: 1q25.2 Genomic coordinates (GRCh38): 1:179,839,976-179,877,803 (from NCBI)

This gene has 6 transcripts (splice variants), 259 orthologues and 1 paralogue. Ubiquitous expression in liver (RPKM 4.5), small intestine (RPKM 3.8) and 25 other tissues.

功能概要

由该基因编码的两种蛋白质亚型之一是在内质网 (ER) 中发现的 II 型整合膜蛋白。编码的蛋白质是 ATPase TorsinA 的辅助因子，与核膜中发现的相比，调节 ER 中 TorsinA 的数量。这种蛋白质的缺陷是早发性原发性肌张力障碍 (一种神经肌肉疾病) 的原因。由该基因编码的另一种亚型是干扰素 α 反应蛋白，其细胞作用尚未确定。[RefSeq 提供，2017 年 3 月]

One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined. [provided by RefSeq, Mar 2017]

TOR1AIP2 基因产物(9)

mRNA	Protein	Name
NM_001199260.2	NP_001186189.1	torsin-1A-interacting protein 2 isoform b
NM_001349931.2	NP_001336860.1	interferon alpha responsive protein isoform a
NM_001349933.1	NP_001336862.1	interferon alpha responsive protein isoform a
NM_001349934.2	NP_001336863.1	torsin-1A-interacting protein 2 isoform b
NM_001349935.2	NP_001336864.1	torsin-1A-interacting protein 2 isoform b
NM_001349936.2	NP_001336865.1	torsin-1A-interacting protein 2 isoform b
NM_001349937.2	NP_001336866.1	torsin-1A-interacting protein 2 isoform b
NM_022347.5	NP_071742.1	interferon alpha responsive protein isoform a
NM_145034.5	NP_659471.1	torsin-1A-interacting protein 2 isoform b

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables ATPase activator activity	IDA IDA: 通过直接分析推断	23569223	GOA
enables ATPase binding	IPI IPI: 通过物理相互作用推断	23569223	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15767459	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in endoplasmic reticulum organization	IMP IMP: 通过突变表型推断	24275647	GOA
involved in positive regulation of ATP-dependent activity	IDA IDA: 通过直接分析推断	23569223	GOA
involved in protein localization to nuclear envelope	IDA IDA: 通过直接分析推断	19339278	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	24275647	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

TOR1AIP2 蛋白结构

LAP1C

0
100
200
300
400
470 a.a.

蛋白主名

其他名称

torsin-1A-interacting protein 2

interferon alpha responsive protein

15 kDa interferon-responsive protein

关联疾病

疾病名称

别名

Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures

Muscular Dystrophy, Limb-Girdle, Type 2y	Lgmd2y
MRRSDC	Muscular Dystrophy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Tor1aip1-Related Limb-Girdle Muscular Dystrophy	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y
Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency	Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency
Lgmd Type 2y	Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine
Tor1aip1-Related Lgmd	Limb-Girdle Muscular Dystrophy 2y

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b	Muscular Dystrophy, Limb-Girdle, Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e	Beta-Sarcoglycanopathy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y	Muscular Dystrophy, Limb-Girdle, Type 3
Lgmd3	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
LGMDR2	Muscular Dystrophy, Limb-Girdle, Type 2s
Limb-Girdle Muscular Dystrophy Type 2b	Lgmd2e
Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency	Muscular Dystrophy, Limb-Girdle, Type 2e
Lgmd2s	Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency
Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency	Lgmd2y
Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine	Muscular Dystrophy, Limb-Girdle, Type 2y
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Dysferlin-Related Lgmd R2	Lgmd Due To Dysferlin Deficiency
Lgmd Type 2b	Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
Limb-Girdle Muscular Dystrophy 2b	Limb-Girdle Muscular Dystrophy, Type 2b
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2	Dystrophy, Muscular, Limb-Girdle, Type 2b
Limb-Girdle Muscular Dystrophy, Type 2e

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Dystonia 1, Torsion, Autosomal Dominant

Dystonia Musculorum Deformans 1	Dystonia Musculorum Deformans
DYT1	Early-Onset Torsion Dystonia
Eotd	Dystonia-1, Torsion
Torsion Dystonia 1	Autosomal Dominant Torsion Dystonia 1
Dystonia-1	Oppenheim'S Dystonia
Oppenheim-Ziehen Disease	Early Onset Torsion Dystonia
Dystonia 3, Torsion, X-Linked

Movement Disease

Movement Disorders

Movement 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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS14905	TOR1AIP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	TOR1AIP2	RGD	RGD:735059
Bos taurus	TOR1AIP2	VGNC	VGNC:36225
Mus musculus	TOR1AIP2	MGD	MGI:3582695

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2024 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4