1. Gene
  2. TANGO2 - transport and golgi organization 2 homolog Gene

TANGO2 - transport and golgi organization 2 homolog Gene

中文名称:运输和高尔基体组织 2 同系物

种属: Homo sapiens

同用名: MECRCN; C22orf25

基因 ID: 128989 | 基因类型: protein coding

关于 TANGO2

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:20,017,023-20,067,164 (from NCBI)

This gene has 26 transcripts (splice variants), 211 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 11.7), bone marrow (RPKM 9.2) and 25 other tissues.

功能概要

该基因属于运输和高尔基体组织家族,其成员预计在内质网中的分泌蛋白装载中发挥作用。果蝇 S2 细胞中该基因的耗尽导致高尔基体与 ER 融合。在小鼠组织培养细胞中,该蛋白与线粒体靶向的 mCherry 蛋白共定位,并显示与高尔基体和过氧化物酶体的共定位水平非常低。该基因的等位基因变异与横纹肌溶解症、脑病代谢危象和心律失常有关。[RefSeq 提供,2016 年 4 月]

This gene belongs to the transport and Golgi organization family, whose members are predicted to play roles in secretory protein loading in the endoplasmic reticulum. Depletion of this gene in Drosophila S2 cells causes fusion of the Golgi with the ER. In mouse tissue culture cells, this protein co-localizes with a mitochondrially targeted mCherry protein and displays very low levels of co-localization with Golgi and peroxisomes. Allelic variants of this gene are associated with rhabdomyolysis, metabolic crises with encephalopathy, and cardiac arrhythmia. [provided by RefSeq, Apr 2016]

TANGO2 基因产物(34)

mRNA Protein Name
NM_001283106.3 NP_001270035.1 transport and Golgi organization protein 2 homolog isoform a
NM_001283116.3 NP_001270045.1 transport and Golgi organization protein 2 homolog isoform a
NM_001283129.3 NP_001270058.1 transport and Golgi organization protein 2 homolog isoform b
NM_001283148.3 NP_001270077.1 transport and Golgi organization protein 2 homolog isoform c
NM_001283154.3 NP_001270083.1 transport and Golgi organization protein 2 homolog isoform c
NM_001283179.3 NP_001270108.1 transport and Golgi organization protein 2 homolog isoform d
NM_001283186.3 NP_001270115.1 transport and Golgi organization protein 2 homolog isoform d
NM_001283199.3 NP_001270128.1 transport and Golgi organization protein 2 homolog isoform e
NM_001283215.3 NP_001270144.1 transport and Golgi organization protein 2 homolog isoform f
NM_001283235.3 NP_001270164.1 transport and Golgi organization protein 2 homolog isoform g
NM_001283248.3 NP_001270177.1 transport and Golgi organization protein 2 homolog isoform h
NM_001322141.2 NP_001309070.1 transport and Golgi organization protein 2 homolog isoform i
NM_001322142.2 NP_001309071.1 transport and Golgi organization protein 2 homolog isoform j
NM_001322143.2 NP_001309072.1 transport and Golgi organization protein 2 homolog isoform b
NM_001322144.2 NP_001309073.1 transport and Golgi organization protein 2 homolog isoform l
NM_001322145.2 NP_001309074.1 transport and Golgi organization protein 2 homolog isoform m
NM_001322146.2 NP_001309075.1 transport and Golgi organization protein 2 homolog isoform k
NM_001322147.2 NP_001309076.1 transport and Golgi organization protein 2 homolog isoform m
NM_001322148.2 NP_001309077.1 transport and Golgi organization protein 2 homolog isoform n
NM_001322149.2 NP_001309078.1 transport and Golgi organization protein 2 homolog isoform r
NM_001322150.2 NP_001309079.1 transport and Golgi organization protein 2 homolog isoform o
NM_001322153.2 NP_001309082.1 transport and Golgi organization protein 2 homolog isoform o
NM_001322155.2 NP_001309084.1 transport and Golgi organization protein 2 homolog isoform o
NM_001322160.2 NP_001309089.1 transport and Golgi organization protein 2 homolog isoform p
NM_001322163.2 NP_001309092.1 transport and Golgi organization protein 2 homolog isoform d
NM_001322166.2 NP_001309095.1 transport and Golgi organization protein 2 homolog isoform d
NM_001322167.2 NP_001309096.1 transport and Golgi organization protein 2 homolog isoform d
NM_001322169.2 NP_001309098.1 transport and Golgi organization protein 2 homolog isoform q
NM_001322171.2 NP_001309100.1 transport and Golgi organization protein 2 homolog isoform g
NM_001322172.2 NP_001309101.1 transport and Golgi organization protein 2 homolog isoform g
NM_001322173.2 NP_001309102.1 transport and Golgi organization protein 2 homolog isoform g
NM_001322174.2 NP_001309103.1 transport and Golgi organization protein 2 homolog isoform g
NM_001322175.2 NP_001309104.1 transport and Golgi organization protein 2 homolog isoform g
NM_152906.7 NP_690870.3 transport and Golgi organization protein 2 homolog isoform a
基因本体论
  • 分子功能
  • 细胞组分
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
28514442 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
26805781 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
31276219 GOA
located in cytosol IDA
IDA: 通过直接分析推断
32909282 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
32909282 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
蛋白主名 其他名称

transport and Golgi organization protein 2 homolog

TANGO2 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
TANGO2 Q6ICL3 SH3GL2 Homo sapiens Q99962 33961781
种属内
TANGO2 Q6ICL3 SH3GL2 Homo sapiens Q99962 28514442
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
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration

Metabolic Encephalomyopathic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration

MECRCN

Rhabdomyolysis

Tango2-Related Metabolic Encephalopathy And Arrhythmias

Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome

Tango2

Metabolic Encephalomyopathic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration

Tango2 Related Disease

Tango2-Related Metabolic Encephalopathy-Arrhythmia Syndrome

Tango2-Related Disorder

Episodic Ataxia

Isaacs Syndrome

Neuromyotonia

Isaacs' Syndrome

Acquired Neuromyotonia

Continuous Muscle Fiber Activity Syndrome

Quantal Squander Syndrome

Isaacs-Mertens Syndrome

Ea Syndrome

Episodic Ataxia Syndrome

Isaac Syndrome

Isaac'S-Merten'S Syndrome

Isaac-Mertens Syndrome

Peripheral Nerve Hyperexcitability

Ea

Peripheral Nerve Hyperexcitability Syndrome

Ataxia, Episodic

Isaacs Neuromyotonia

Continuous Muscle Fibre Activity

Hereditary Episodic Ataxia
Pitt-Hopkins-Like Syndrome 2

PTHSL2

Mesh

D006985

Mesh

D008607

Treacher Collins Syndrome 3

TCS3

Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive

Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive

Lissencephaly 6

Lis6

Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis

ECTD14

Ectodermal Dysplasia 14

Ectn14

Leukodystrophy, Hypomyelinating, 11

Hypomyelinating Leukodystrophy 11

HLD11

4h Leukodystrophy 3

Leukodystrophy, Hypomyelinating, Type 11

Chromosome 6q24-Q25 Deletion Syndrome

Chromosome 6q25-Q25 Deletion Syndrome

6q25 Microdeletion Syndrome

Monosomy 6q25

Del(6)(Q25)

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia

Ahc

Alternating Hemiplegia Syndrome

Hemiplegia, Alternating, Of Childhood

Hemiplegia, Crossed

Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

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
Rattus norvegicus TANGO2 RGD RGD:1310348
Canis familiaris TANGO2 VGNC VGNC:52971
Felis catus TANGO2 VGNC VGNC:65950
Mus musculus TANGO2 MGD MGI:101825
Bos taurus TANGO2 VGNC VGNC:106964
Macaca mulatta TANGO2 VGNC VGNC:78209