MDH2 cDNA ORF clone, Homo sapiens(human)
Gene Symbol | MDH2 |
Entrez Gene ID | 4191 |
Full Name | malate dehydrogenase 2 |
Synonyms | EIEE51,M-MDH,MDH,MGC:3559,MOR1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 51, 617339 (3) |
mRNA and Protein(s)
mRNA | Protein | Name |
---|---|---|
NM_005918.3 | NP_005909.2 | malate dehydrogenase, mitochondrial isoform 1 precursor |
NM_001282403.1 | NP_001269332.1 | malate dehydrogenase, mitochondrial isoform 2 precursor |
NM_001282404.1 | NP_001269333.1 | malate dehydrogenase, mitochondrial isoform 3 |
NM_005918.4 | NP_005909.2 | malate dehydrogenase, mitochondrial isoform 1 precursor |
NM_001282404.2 | NP_001269333.1 | malate dehydrogenase, mitochondrial isoform 3 |
NM_001282403.2 | NP_001269332.1 | malate dehydrogenase, mitochondrial isoform 2 precursor |

Homo sapiens (human) | MDH2 | NP_005909.2 |
Pan troglodytes (chimpanzee) | MDH2 | XP_001156205.1 |
Anopheles gambiae (African malaria mosquito) | AgaP_AGAP001903 | XP_321163.4 |
Caenorhabditis elegans (roundworm) | mdh-2 | NP_498457.1 |
Magnaporthe oryzae (rice blast fungus) | MGG_09367 | XP_003720254.1 |
Arabidopsis thaliana (thale cress) | mMDH1 | NP_564625.1 |
Oryza sativa (rice) | Os01g0649100 | NP_001043717.1 |
Oryza sativa (rice) | Os05g0574400 | NP_001056389.1 |
LOC719983 | XP_001114888.1 | |
Canis lupus familiaris (dog) | LOC102152275 | XP_005634130.1 |
Mus musculus (house mouse) | Mdh2 | NP_032643.2 |
Gallus gallus (chicken) | MDH2 | XP_415765.1 |
Drosophila melanogaster (fruit fly) | Mdh2 | NP_650696.1 |
Kluyveromyces lactis | KLLA0F25960g | XP_456236.1 |
Arabidopsis thaliana (thale cress) | mMDH2 | NP_188120.1 |
Xenopus tropicalis (tropical clawed frog) | mdh2 | NP_001011412.1 |
Danio rerio (zebrafish) | mdh2 | NP_998296.1 |
Schizosaccharomyces pombe (fission yeast) | SPCC306.08c | NP_587816.1 |
Canis lupus familiaris (dog) | MDH2 | XP_849944.1 |
Rattus norvegicus (Norway rat) | Mdh2 | NP_112413.2 |
Saccharomyces cerevisiae (baker's yeast) | MDH1 | NP_012838.1 |
Eremothecium gossypii | AGOS_ADR152C | NP_984248.1 |
Neurospora crassa | NCU04899 | XP_958408.1 |

Related articles in PubMed
MDH2 is an RNA binding protein involved in downregulation of sodium channel Scn1a expression under seizure condition.
Chen YH, Liu SJ, Gao MM, Zeng T, Lin GW, Tan NN, Tang HL, Lu P, Su T, Sun WW, Xie LC, Yi YH, Long YS
Biochimica et biophysica acta1863(6)1492-1499(2017 Jun)
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, Fran?ois B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, R?tig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V
American journal of human genetics100(1)151-159(2017 Jan)
Mitochondrial proteomics with siRNA knockdown to reveal ACAT1 and MDH2 in the development of doxorubicin-resistant uterine cancer.
Lo YW, Lin ST, Chang SJ, Chan CH, Lyu KW, Chang JF, May EW, Lin DY, Chou HC, Chan HL
Journal of cellular and molecular medicine19(4)744-59(2015 Apr)
Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.
Casc?n A, Comino-M?ndez I, Curr?s-Freixes M, de Cubas AA, Contreras L, Richter S, Peitzsch M, Mancikova V, Inglada-P?rez L, P?rez-Barrios A, Calatayud M, Azriel S, Villar-Vicente R, Aller J, Seti?n F, Moran S, Garcia JF, R?o-Mach?n A, Let?n R, G?mez-Gra?a ?, Apell?niz-Ruiz M, Roncador G, Esteller M, Rodr?guez-Antona C, Satr?stegui J, Eisenhofer G, Urioste M, Robledo M
Journal of the National Cancer Institute107(5)(2015 Mar)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
loss-of-function mutations in MDH2 are also associated with severe neurological clinical presentations in children
Title: Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Data indicate that acetyl-CoA acetyltransferase (ACAT1) and malate dehydrogenase (MDH2) are involved in various drug-resistance-forming mechanisms.
Title: Mitochondrial proteomics with siRNA knockdown to reveal ACAT1 and MDH2 in the development of doxorubicin-resistant uterine cancer.
Segregation of the mutation with disease and absence of MDH2 in mutated tumors revealed MDH2 as a novel pheochromocytoma/paraganglioma susceptibility gene.
Title: Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
The following MDH2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the MDH2 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
CloneID | OHu09726![]() |
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Clone ID Related Accession (Same CDS sequence) | NM_001282404.1 , NM_001282404.2 | |
Accession Version | NM_001282404.1 | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 696bp) Protein sequence SNP |
|
Vector | pcDNA3.1+/C-(K)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-02-23 | |
Organism | Homo sapiens(human) | |
Product | malate dehydrogenase, mitochondrial isoform 3 | |
Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP382246.1, DC354622.1, AK095803.1, AK290779.1 and AA214555.1. Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1, that causes translation to begin at a downstream AUG. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK095803.1, SRR1660807.59786.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. |
1 | ATGACCCGGG ACGACCTGTT CAACACCAAT GCCACGATTG TGGCCACCCT GACCGCTGCC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_001269333.1 |
CDS | 295..990 |
Translation |

Target ORF information:
Target ORF information:
|
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ORF Insert Sequence:
1 | ATGACCCGGG ACGACCTGTT CAACACCAAT GCCACGATTG TGGCCACCCT GACCGCTGCC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OHu09726![]() |
|
Clone ID Related Accession (Same CDS sequence) | NM_001282404.1 , NM_001282404.2 | |
Accession Version | NM_001282404.2 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 696bp) Protein sequence SNP |
|
Vector | pcDNA3.1+/C-(K)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-09-27 | |
Organism | Homo sapiens(human) | |
Product | malate dehydrogenase, mitochondrial isoform 3 | |
Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC006330.5 and AC005077.5. On Jun 1, 2019 this sequence version replaced NM_001282404.1. Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1, that causes translation to begin at a downstream AUG. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.256334.1, SRR1803612.61949.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. |
1 | ATGACCCGGG ACGACCTGTT CAACACCAAT GCCACGATTG TGGCCACCCT GACCGCTGCC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_001269333.1 |
CDS | 208..903 |
Translation |

Target ORF information:
Target ORF information:
|
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ORF Insert Sequence:
1 | ATGACCCGGG ACGACCTGTT CAACACCAAT GCCACGATTG TGGCCACCCT GACCGCTGCC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OHu10150 | |
Clone ID Related Accession (Same CDS sequence) | NM_001282403.1 , NM_001282403.2 | |
Accession Version | NM_001282403.1 | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 891bp) Protein sequence SNP |
|
Vector | pcDNA3.1+/C-(K)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-02-23 | |
Organism | Homo sapiens(human) | |
Product | malate dehydrogenase, mitochondrial isoform 2 precursor | |
Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP382246.1, DC354622.1, AK293460.1, AK290779.1, AK095803.1 and AA214555.1. On or before Sep 5, 2013 this sequence version replaced XM_005250351.1, XM_005277583.1. Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.14514.1, SRR1803614.128182.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. |
1 | ATGCTCTCCG CCCTCGCCCG GCCTGCCAGC GCTGCTCTCC GCCGCAGCTT CAGCACCTCG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_001269332.1 |
CDS | 143..1033 |
Translation |

Target ORF information:
Target ORF information:
|
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ORF Insert Sequence:
1 | ATGCTCTCCG CCCTCGCCCG GCCTGCCAGC GCTGCTCTCC GCCGCAGCTT CAGCACCTCG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OHu10150 | |
Clone ID Related Accession (Same CDS sequence) | NM_001282403.1 , NM_001282403.2 | |
Accession Version | NM_001282403.2 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 891bp) Protein sequence SNP |
|
Vector | pcDNA3.1+/C-(K)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-09-28 | |
Organism | Homo sapiens(human) | |
Product | malate dehydrogenase, mitochondrial isoform 2 precursor | |
Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC006330.5 and AC005077.5. On Jun 1, 2019 this sequence version replaced NM_001282403.1. Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.14514.1, SRR1803614.128182.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. |
1 | ATGCTCTCCG CCCTCGCCCG GCCTGCCAGC GCTGCTCTCC GCCGCAGCTT CAGCACCTCG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_001269332.1 |
CDS | 56..946 |
Translation |

Target ORF information:
Target ORF information:
|
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ORF Insert Sequence:
1 | ATGCTCTCCG CCCTCGCCCG GCCTGCCAGC GCTGCTCTCC GCCGCAGCTT CAGCACCTCG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OHu14773 | |
Clone ID Related Accession (Same CDS sequence) | NM_005918.3 , NM_005918.4 | |
Accession Version | NM_005918.3 | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1017bp) Protein sequence SNP |
|
Vector | pcDNA3.1+/C-(K)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2017-10-02 | |
Organism | Homo sapiens(human) | |
Product | malate dehydrogenase, mitochondrial isoform 1 precursor | |
Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP382246.1, DC354622.1, AF047470.1, AK095803.1 and AA214555.1. This sequence is a reference standard in the RefSeqGene project. On Sep 5, 2013 this sequence version replaced NM_005918.2. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.11568.1, SRR1660809.253659.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. |
1 | ATGCTCTCCG CCCTCGCCCG GCCTGCCAGC GCTGCTCTCC GCCGCAGCTT CAGCACCTCG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_005909.2 |
CDS | 143..1159 |
Translation |

Target ORF information:
Target ORF information:
|
![]() |

ORF Insert Sequence:
1 | ATGCTCTCCG CCCTCGCCCG GCCTGCCAGC GCTGCTCTCC GCCGCAGCTT CAGCACCTCG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OHu14773 | |
Clone ID Related Accession (Same CDS sequence) | NM_005918.3 , NM_005918.4 | |
Accession Version | NM_005918.4 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1017bp) Protein sequence SNP |
|
Vector | pcDNA3.1+/C-(K)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-09-26 | |
Organism | Homo sapiens(human) | |
Product | malate dehydrogenase, mitochondrial isoform 1 precursor | |
Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC006330.5 and AC005077.5. On Nov 23, 2018 this sequence version replaced NM_005918.3. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.11568.1, SRR3476690.978959.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000315758.10/ ENSP00000327070.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: full length. |
1 | ATGCTCTCCG CCCTCGCCCG GCCTGCCAGC GCTGCTCTCC GCCGCAGCTT CAGCACCTCG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_005909.2 |
CDS | 56..1072 |
Translation |

Target ORF information:
Target ORF information:
|
![]() |

ORF Insert Sequence:
1 | ATGCTCTCCG CCCTCGCCCG GCCTGCCAGC GCTGCTCTCC GCCGCAGCTT CAGCACCTCG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
![]() |
MDH2 is an RNA binding protein involved in downregulation of sodium channel Scn1a expression under seizure condition. |
![]() |
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. |
![]() |
Mitochondrial proteomics with siRNA knockdown to reveal ACAT1 and MDH2 in the development of doxorubicin-resistant uterine cancer. |
![]() |
Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. |