1. Gene
  2. MTX2 - metaxin 2 Gene

MTX2 - metaxin 2 Gene

中文名称:metaxin 2

种属: Homo sapiens

同用名: MDPS; metaxin-2

基因 ID: 10651 | 基因类型: protein coding

关于 MTX2

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,269,442-176,338,025 (from NCBI)

This gene has 5 transcripts (splice variants), 207 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 27.0), adrenal (RPKM 14.9) and 25 other tissues.

功能概要

由该基因编码的蛋白质与小鼠的 metaxin 2 蛋白质高度相似,后者已被证明与线粒体膜蛋白 metaxin 1 相互作用。由于这种相似性,人们认为编码的蛋白质与胞质面外围相关外线粒体膜,它参与将蛋白质输入线粒体。可变剪接导致多个转录本变体。已在 7 号染色体上鉴定出一个相关的假基因。[RefSeq 提供,2009 年 6 月]

The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]

MTX2 基因产物(4)

mRNA Protein Name
NM_001006635.3 NP_001006636.1 metaxin-2 isoform 2
NM_001319097.2 NP_001306026.1 metaxin-2 isoform 3
NM_001319098.2 NP_001306027.1 metaxin-2 isoform 4
NM_006554.5 NP_006545.1 metaxin-2 isoform 1
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 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 mitochondrial transport IMP
IMP: 通过突变表型推断
32917887 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of SAM complex IPI
IPI: 通过物理相互作用推断
17510655 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
25997101 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

MTX2 蛋白结构

Tom37

Tom37: Outer mitochondrial membrane transport complex protein (39 - 92)

GST_C_3

GST_C_3: Glutathione S-transferase, C-terminal domain (127 - 251)

  • 0
  • 100
  • 200
  • 263 a.a.
蛋白主名 其他名称

metaxin-2

mitochondrial outer membrane import complex protein 2

MTX2 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
Intra MTX2 O75431 RHOH Homo sapiens Q15669
Y2H Prey Pooling
32296183
Intra MTX2 O75431 RHOH Homo sapiens Q15669
Validated Y2H
32296183
Intra MTX2 O75431 RHOH Homo sapiens Q15669
Y2H Array
32296183
Intra MTX2 O75431 C1QTNF2 Homo sapiens Q9BXJ5
Y2H Prey Pooling
32296183
Intra MTX2 O75431 C1QTNF2 Homo sapiens Q9BXJ5
Validated Y2H
32296183
Intra MTX2 O75431 C1QTNF2 Homo sapiens Q9BXJ5
Y2H Array
32296183
Intra MTX2 O75431 TADA2A Homo sapiens O75478
Y2H Array
25416956
Intra MTX2 O75431 TADA2A Homo sapiens O75478
Y2H Prey Pooling
25416956
Intra MTX2 O75431 KASH5 Homo sapiens Q8N6L0
Y2H Prey Pooling
32296183
Intra MTX2 O75431 KASH5 Homo sapiens Q8N6L0
Validated Y2H
32296183
Intra MTX2 O75431 KASH5 Homo sapiens Q8N6L0
Y2H Array
32296183
Intra MTX2 O75431 KASH5 Homo sapiens Q8N6L0
Y2H Array
25416956
Intra MTX2 O75431 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
Intra MTX2 O75431 UBQLN2 Homo sapiens Q9UHD9
Y2H Prey Pooling
32296183
Intra MTX2 O75431 UBQLN2 Homo sapiens Q9UHD9
Y2H Array
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
Mandibuloacral Dysplasia Progeroid Syndrome

MDPS

Progeroid Mandibuloacral Dysplasia

Pigmentation Anomaly Of The Skin

Abnormality Of Skin Pigmentation

Skin Pigmentation Disorders

Skin Pigmentation

Dyschromia

Skin Colour Abnormality

Discolouration Of Skin

Mandibuloacral Dysplasia With Type A Lipodystrophy

Mandibuloacral Dysplasia

MADA

Lipodystrophy, Type A, Associated With Mandibuloacral Dysplasia

Craniomandibular Dermatodysostosis

Mad

Mandibuloacral Dysostosis

Mandibuloacral Dysplasia Type A Lipodystrophy

Lipodystrophy Type A Associated With Mandibuloacral Dysplasia

Mandibuloacral Dysplasia With Type A Lipodystrophy Atypical

Tendinous Calcinosis Arthropathy And Progeroid Features

Mandibuloacral Dysplasia With Type A Lipodystrophy, Atypical

Dysplasia, Mandibuloacral

Dysplasia, Mandibuloacral, With Type A Lipodystrophy

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Cranioectodermal Dysplasia 2

CED2

Sensenbrenner Syndrome 2

Dysplasia, Cranioectodermal, Type 2

Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome

Foxp1 Syndrome

Mental Retardation With Language Impairment And With Or Without Autistic Features

Foxp1 Related Global Developmental Delay, Intellectual Disability And Speech Defects

Intellectual Disability With Language Impairment And With Or Without Autistic Features

Acroosteolysis

Acro-Osteolysis

Progeroid Syndrome
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 MTX2 VGNC VGNC:68356
Rattus norvegicus MTX2 RGD RGD:1306473
Mus musculus MTX2 MGD MGI:1859652
Bos taurus MTX2 VGNC VGNC:56129
Canis familiaris MTX2 VGNC VGNC:53101
Macaca mulatta MTX2 VGNC VGNC:75080