2. Gene
  3. MDH2 - malate dehydrogenase 2 Gene

MDH2 - malate dehydrogenase 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：苹果酸脱氢酶 2

种属: Homo sapiens

同用名: MDH; MOR1; DEE51; M-MDH; EIEE51; MGC:3559

基因 ID: 4191 | 基因类型: protein coding

关于 MDH2

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:76,048,106-76,067,508 (from NCBI)

This gene has 8 transcripts (splice variants), 236 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 76.5), duodenum (RPKM 46.8) and 25 other tissues.

功能概要

苹果酸脱氢酶利用柠檬酸循环中的 NAD/NADH 辅助因子系统，催化苹果酸可逆氧化为草酰乙酸。由该基因编码的蛋白质定位于线粒体，可能在苹果酸-天冬氨酸穿梭中发挥关键作用，该穿梭在胞质溶胶和线粒体之间的代谢协调中起作用。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供，2013 年 9 月]

Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

MDH2 基因产物(3)

mRNA Protein Name
NM_001282403.2 NP_001269332.1 malate dehydrogenase, mitochondrial isoform 2 precursor
NM_001282404.2 NP_001269333.1 malate dehydrogenase, mitochondrial isoform 3
NM_005918.4 NP_005909.2 malate dehydrogenase, mitochondrial isoform 1 precursor
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 L-malate dehydrogenase (NAD+) activity EXP
EXP: 通过实验结果推断
16740313 GOA
enables L-malate dehydrogenase (NAD+) activity IDA
IDA: 通过直接分析推断
16740313 GOA
enables L-malate dehydrogenase (NAD+) activity IMP
IMP: 通过突变表型推断
6576816 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in aerobic respiration IDA
IDA: 通过直接分析推断
27989324 GOA
involved in malate metabolic process IDA
IDA: 通过直接分析推断
16740313 GOA
involved in malate metabolic process IMP
IMP: 通过突变表型推断
6576816 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
16740313 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

MDH2 蛋白结构

Ldh_1_N

Ldh_1_N: lactate/malate dehydrogenase, NAD binding domain (26 - 168)

Ldh_1_C

Ldh_1_C: lactate/malate dehydrogenase, alpha/beta C-terminal domain (170 - 334)

  • 0
  • 100
  • 200
  • 300
  • 338 a.a.
蛋白主名 其他名称

malate dehydrogenase, mitochondrial

malate dehydrogenase 2, NAD (mitochondrial)

重组 MDH2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70350 MDH2 Protein, Human (HEK293, His) P40926 (A25-K338) ≥95%

MDH2 抗体

目录号 产品名 应用 反应物种
HY-P83462 MDH2 Antibody (YA3207) WB, IHC-P Human, Rat

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 51

DEE51

Epileptic Encephalopathy, Early Infantile, 51

Eiee51

Developmental And Epileptic Encephalopathy, 51

Early Infantile Epileptic Encephalopathy 51
Hereditary Paraganglioma-Pheochromocytoma Syndromes

Hereditary Pheochromocytoma-Paraganglioma

Hereditary Paraganglioma-Pheochromocytoma

Familial Pheochromocytoma-Paraganglioma

Paragangliomas 2

Paragangliomas 3

Paragangliomas 4

Sdhx-Related Paraganglioma-Pheochromocytoma

Familial Paraganglioma Syndrome

Familial Paraganglioma-Pheochromocytoma Syndromes

Fpgl

Fpgl/Pheo

Paragangliomas 1

Paraganglioma
Gastroenteritis

Cholera Morbus

Infectious Colitis, Enteritis And Gastroenteritis

Enteritis Due To Astrovirus

Rotaviral Gastroenteritis

Viral Gastroenteritis Due To Rotavirus
Leishmaniasis

Post-Kala-Azar Dermal Leishmaniasis

Post Kala-Azar Dermal Leishmaniasis

Post-Kala-Azar Dermal Infectious Disease By Leishmaniasis

Cutaneous Leishmaniasis

Kala-Azar

Visceral Leishmaniasis

Leishmaniasis, Cutaneous

Leishmaniasis, Visceral

Leishmania

Leishmania Infection

Leishmaniosis
Paraganglioma

Chemodectoma

Glomus Body Tumor

Paragangliomas

Carotid Body Paraganglioma

Extra-Adrenal Paraganglioma
Persistent Generalized Lymphadenopathy

Pgl

Persistant Generalized Lymphadenopathy
2-Hydroxyglutaric Aciduria

2-Hga

2-Hydroxyglutaric Acidemia

2-Hydroxyglutaricaciduria

Combined D-2- And L-2-Hydroxyglutaric Aciduria
Infantile Cerebellar-Retinal Degeneration

ICRD

Infantile Cerebellar Retinal Degeneration

Degeneration, Cerebellar-Retinal, Infantile
Developmental And Epileptic Encephalopathy 39

Hypomyelination, Global Cerebral

Agc1 Deficiency

Epileptic Encephalopathy, Early Infantile, 39

DEE39

Eiee39

Aspartate-Glutamate Carrier 1 Deficiency

Epileptic Encephalopathy With Global Cerebral Demyelination

Developmental And Epileptic Encephalopathy, 39

Early Infantile Epileptic Encephalopathy 39

Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency

Global Cerebral Hypomyelination

Hereditary Central Nervous System Demyelinating Diseases
Pheochromocytoma

Pheochromocytoma, Susceptibility To

Phaeochromocytoma

Adrenal Gland Chromaffin Paraganglioma

Adrenal Gland Chromaffinoma

Adrenal Gland Paraganglioma

Adrenal Gland Pheochromocytoma

Chromaffin Paraganglioma Of The Adrenal Gland

Intraadrenal Paraganglioma

PCC

Chromaffin Cell Tumor

Medullary Chromaffinoma

Medullary Paraganglioma

Pheochromoblastoma

Pheochromocytomas

Chromaffin Cell Neoplasm

Pheochromocytoma, Malignant
L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia

L2HGA

L-2-Hga

Aciduria, L-2-Hydroxyglutaric

Combined D-2- And L-2-Hydroxyglutaric Aciduria
Combined D-2- And L-2-Hydroxyglutaric Aciduria

D,L-2-Hydroxyglutaric Aciduria

D2L2AD

Combined D-2-Hydroxyglutaric Acidemia And L-2-Hydroxyglutaric Acidemia

Combined D-2-Hydroxyglutaric Aciduria And L-2-Hydroxyglutaric Aciduria

D,L-2-Hga

D,L-2-Hydroxyglutaric Acidemia

Combined D,L-2-Hydroxyglutaric Aciduria
Fumarase Deficiency

Fumaric Aciduria

FMRD

Fumarate Hydratase Deficiency

Deficiency, Fumarase
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Urinary Tract Infection

Urinary Tract Infections

Uti

Urinary Tract Infection Nos

Uti - [Urinary Tract Infection]

Uti Nos - [Urinary Tract Infection Nos]

Urosepsis Nos

E Coli Uti

E Coli Urinary Tract Infection

Escherichia Coli Uti
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
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

相关产品

Pre-clinical Phase
生物活性分子 (5)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-13671 LW6 98.86% 否
HY-147791 MDH1-IN-2 Inhibitor 98.70% 否
HY-RS08261 MDH2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS16896 Mdh2 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS23338 Mdh2 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta MDH2 VGNC VGNC:74691
Mus musculus MDH2 MGD MGI:97050
Bos taurus MDH2 VGNC VGNC:106817
Rattus norvegicus MDH2 RGD RGD:619719
Felis catus MDH2 VGNC VGNC:68221
Others MDH2 NCBI
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