MDH2 - malate dehydrogenase 2 Gene

Also Known as MDH; MOR1; DEE51; M-MDH; EIEE51; MGC:3559

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4191

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables L-malate dehydrogenase (NAD+) activity	EXP EXP: Inferred from Experiment	16740313	GOA
enables L-malate dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	16740313	GOA
enables L-malate dehydrogenase (NAD+) activity	IMP IMP: Inferred from mutant phenotype	6576816	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in aerobic respiration	IDA IDA: Inferred from direct assay	27989324	GOA
involved in malate metabolic process	IDA IDA: Inferred from direct assay	16740313	GOA
involved in malate metabolic process	IMP IMP: Inferred from mutant phenotype	6576816	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	16740313	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MDH2 Protein Structure

Ldh_1_N

Ldh_1_C

0
100
200
300
338 a.a.

Protein Preferred Names	Protein Names
malate dehydrogenase, mitochondrial	malate dehydrogenase 2, NAD (mitochondrial)

Recombinant MDH2 Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P70350	MDH2 Protein, Human (HEK293, His)	P40926 (A25-K338)	≥ 95%, as determined by reducing SDS-PAGE.

MDH2 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P83462	MDH2 Antibody (YA3207)	WB, IHC-P	Human, Rat
HY-P83462A	MDH2 Antibody (YA3207)(PBS only)	WB, IHC-P	Human, Rat

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-13671	LW6		98.86%	Unkown
HY-147791	MDH1-IN-2	Inhibitor	98.70%	Unkown
HY-147790	MDH1-IN-1	Inhibitor	99.97%	Unkown
HY-181604	MDH2-IN-2	Inhibitor	/	Unkown
HY-RS08261	MDH2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16896	Mdh2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23338	Mdh2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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