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Aliases for ME2 Gene

Aliases for ME2 Gene

  • Malic Enzyme 2 2 3 4 5
  • NAD-Dependent Malic Enzyme, Mitochondrial 2 3 4
  • Malate Dehydrogenase (Oxaloacetate-Decarboxylating) 2 3
  • Malic Enzyme 2, NAD(+)-Dependent, Mitochondrial 2 3
  • NAD-ME 3 4
  • Pyruvic-Malic Carboxylase 3
  • EC 4
  • EC 1.1.1 56
  • ODS1 3

External Ids for ME2 Gene

Previous GeneCards Identifiers for ME2 Gene

  • GC18P048588
  • GC18P048341
  • GC18P046657
  • GC18P046659
  • GC18P048405
  • GC18P045260

Summaries for ME2 Gene

Entrez Gene Summary for ME2 Gene

  • This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]

GeneCards Summary for ME2 Gene

ME2 (Malic Enzyme 2) is a Protein Coding gene. Diseases associated with ME2 include Epilepsy, Idiopathic Generalized and Adolescence-Adult Electroclinical Syndrome. Among its related pathways are Pyruvate metabolism and Glucose / Energy Metabolism. Gene Ontology (GO) annotations related to this gene include electron transfer activity and malic enzyme activity. An important paralog of this gene is ME3.

Gene Wiki entry for ME2 Gene

Additional gene information for ME2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ME2 Gene

Genomics for ME2 Gene

GeneHancer (GH) Regulatory Elements for ME2 Gene

Promoters and enhancers for ME2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J050877 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 620 +0.7 661 3.9 SP1 ZFX ELF3 MNT ZNF148 NKRF POLR2A ZNF121 ZNF687 ZSCAN21 ME2 MBD1 MEX3C CXXC1 GC18P050945
GH18J051027 Promoter/Enhancer 1.5 Ensembl ENCODE 20 +151.6 151642 5.1 ELF3 CTCF ZFX NKRF POLR2A CEBPG GTF2F1 ZNF687 ZSCAN21 AHR SMAD4 LOC105372117 GC18M051028 ME2 RPL17P46 MRO ENSG00000267699 GC18M051107 GC18P050945
GH18J050853 Enhancer 1 FANTOM5 ENCODE 21.4 -24.2 -24181 2.2 CEBPG MAFK TRIM24 SP1 MZF1 RXRA CEBPA RCOR2 ZNF316 CEBPB ME2 GC18M050796 MRO
GH18J050967 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.3 +89.2 89197 3.6 ZFX ELF3 NKRF POLR2A ZNF687 ZNF24 TFE3 YY1 ELF1 KLF14 ENSG00000267699 ELAC1 CXXC1 MBD1 MEX3C ME2 GC18M050960 ENSG00000200752 GC18P050945
GH18J050868 Enhancer 1.1 Ensembl ENCODE 16.1 -9.0 -9003 2.4 CBFA2T2 ZNF121 ZSCAN21 TRIM24 SP7 PRDM1 SMARCA4 GLIS2 ZNF600 PRDM10 ME2 MRO RPL17P46 GC18M050796
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ME2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ME2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • Cart-1
  • FOXO1
  • FOXO1a
  • HSF2
  • POU2F1
  • POU2F1a
  • POU6F1 (c2)

Genomic Locations for ME2 Gene

Genomic Locations for ME2 Gene
75,654 bases
Plus strand
70,747 bases
Plus strand

Genomic View for ME2 Gene

Genes around ME2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ME2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ME2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ME2 Gene

Proteins for ME2 Gene

  • Protein details for ME2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    NAD-dependent malic enzyme, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2R8J2
    • Q9BWL6
    • Q9BYG1
    • Q9H4B2

    Protein attributes for ME2 Gene

    584 amino acids
    Molecular mass:
    65444 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homotetramer.
    • This isoenzyme can also use NADP(+) but is more effective with NAD(+).

    Three dimensional structures from OCA and Proteopedia for ME2 Gene

    Alternative splice isoforms for ME2 Gene


neXtProt entry for ME2 Gene

Selected DME Specific Peptides for ME2 Gene


Post-translational modifications for ME2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for ME2
  • Santa Cruz Biotechnology (SCBT) Antibodies for ME2

Domains & Families for ME2 Gene

Gene Families for ME2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ME2 Gene

GenScript: Design optimal peptide antigens:
  • Malic enzyme 2 (MAOM_HUMAN)
  • Cadherin (O15200_HUMAN)
  • Malic enzyme (Q9BWL6_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the malic enzymes family.
  • Belongs to the malic enzymes family.
genes like me logo Genes that share domains with ME2: view

Function for ME2 Gene

Molecular function for ME2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(S)-malate + NAD(+) = CO2 + NADH + pyruvate; Xref=Rhea:RHEA:12653, ChEBI:CHEBI:15361, ChEBI:CHEBI:15589, ChEBI:CHEBI:16526, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + oxaloacetate = CO2 + pyruvate; Xref=Rhea:RHEA:15641, ChEBI:CHEBI:15361, ChEBI:CHEBI:15378, ChEBI:CHEBI:16452, ChEBI:CHEBI:16526; EC=;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Subject to allosteric activation by fumarate.
GENATLAS Biochemistry:
malic enzyme 2,mitochondrial

Enzyme Numbers (IUBMB) for ME2 Gene

Phenotypes From GWAS Catalog for ME2 Gene

Gene Ontology (GO) - Molecular Function for ME2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004470 malic enzyme activity IEA,IMP 23334421
GO:0004471 malate dehydrogenase (decarboxylating) (NAD+) activity IEA --
GO:0004473 malate dehydrogenase (decarboxylating) (NADP+) activity IBA 21873635
GO:0008948 oxaloacetate decarboxylase activity IEA --
GO:0009055 electron transfer activity TAS 1993674
genes like me logo Genes that share ontologies with ME2: view
genes like me logo Genes that share phenotypes with ME2: view

Animal Models for ME2 Gene

MGI Knock Outs for ME2:
  • Me2 Me2<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for ME2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ME2

Clone Products

  • Applied Biological Materials (abm): Clones for ME2 - Now 50% OFF >
  • * ME2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ME2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for ME2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ME2 Gene

Localization for ME2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ME2 Gene

Mitochondrion matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ME2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
peroxisome 1
nucleus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ME2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IBA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ME2: view

Pathways & Interactions for ME2 Gene

genes like me logo Genes that share pathways with ME2: view

Pathways by source for ME2 Gene

2 KEGG pathways for ME2 Gene
1 Cell Signaling Technology pathway for ME2 Gene

Gene Ontology (GO) - Biological Process for ME2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006090 pyruvate metabolic process IBA 21873635
GO:0006099 tricarboxylic acid cycle TAS --
GO:0006108 malate metabolic process IBA 21873635
GO:0008152 metabolic process IEA --
GO:0022900 electron transport chain IEA --
genes like me logo Genes that share ontologies with ME2: view

No data available for SIGNOR curated interactions for ME2 Gene

Drugs & Compounds for ME2 Gene

(13) Drugs for ME2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Magnesium Approved, Experimental, Investigational Pharma 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Manganese Approved Nutra 41
Pyruvic acid Approved, Investigational Nutra 0

(11) Additional Compounds for ME2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
Hydroxypropanedioic acid
  • 2-Hydroxymalonate
  • 2-Hydroxymalonic acid
  • 2-Hydroxypropanedioic acid
  • 2-Tartronic acid
  • Tartronic acid
L-Malic acid
  • (-)-L-Malic acid
  • (S)-(-)-Hydroxysuccinic acid
  • L-2-Hydroxybutanedioic acid
  • L-Apple acid
  • Malate
Mesoxalic acid
  • Ketomalonic acid
  • a-KETOMALONate
  • a-KETOMALONic acid
  • alpha-KETOMALONate
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
genes like me logo Genes that share compounds with ME2: view

Transcripts for ME2 Gene

mRNA/cDNA for ME2 Gene

Unigene Clusters for ME2 Gene

Malic enzyme 2, NAD(+)-dependent, mitochondrial:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ME2

Clone Products

  • Applied Biological Materials (abm): Clones for ME2 - Now 50% OFF >
  • * ME2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ME2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for ME2

Alternative Splicing Database (ASD) splice patterns (SP) for ME2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c
SP1: -
SP2: - - -
SP4: -

Relevant External Links for ME2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ME2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ME2 Gene

Protein differential expression in normal tissues from HIPED for ME2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.4) and Spleen (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ME2 Gene

Protein tissue co-expression partners for ME2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ME2 Gene:


SOURCE GeneReport for Unigene cluster for ME2 Gene:


Evidence on tissue expression from TISSUES for ME2 Gene

  • Liver(4.5)
  • Blood(4.3)
  • Nervous system(3.2)
  • Thyroid gland(3.1)
  • Heart(3)
  • Muscle(3)
  • Kidney(2.9)
  • Adrenal gland(2.7)
  • Gall bladder(2.7)
  • Intestine(2.7)
  • Lung(2.7)
  • Lymph node(2.7)
  • Spleen(2.7)
  • Stomach(2.7)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with ME2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ME2 Gene

Orthologs for ME2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ME2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ME2 35 34
  • 99.54 (n)
(Canis familiaris)
Mammalia ME2 35 34
  • 90.64 (n)
(Bos Taurus)
Mammalia ME2 35 34
  • 90.24 (n)
(Rattus norvegicus)
Mammalia Me2 34
  • 85.27 (n)
(Mus musculus)
Mammalia Me2 17 35 34
  • 85.22 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 85 (a)
-- 35
  • 70 (a)
(Monodelphis domestica)
Mammalia ME2 35
  • 83 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 80 (a)
-- 35
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia me2 34
  • 71.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia me2 34
(Danio rerio)
Actinopterygii me2 35 35
  • 75 (a)
LOC100537927 34
  • 66.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mdh 36
  • 54 (a)
Men-b 35
  • 48 (a)
Menl-1 36
  • 45 (a)
Menl-2 36
  • 42 (a)
Men 35 36
  • 37 (a)
CG7848 35 36
  • 32 (a)
(Caenorhabditis elegans)
Secernentea Y48B6A.12 36
  • 50 (a)
men-1 35
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAE1 35
  • 30 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons NADP-ME3 34
  • 56.55 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3190 34
(Oryza sativa)
Liliopsida Os01g0723400 34
  • 55.78 (n)
Species where no ortholog for ME2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ME2 Gene

Gene Tree for ME2 (if available)
Gene Tree for ME2 (if available)
Evolutionary constrained regions (ECRs) for ME2: view image

Paralogs for ME2 Gene

Paralogs for ME2 Gene Pseudogenes for ME2 Gene

genes like me logo Genes that share paralogs with ME2: view

Variants for ME2 Gene

Sequence variations from dbSNP and Humsavar for ME2 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs142990108 uncertain-significance, not specified 50,917,507(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs370952608 uncertain-significance, not specified 50,916,184(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs765995662 uncertain-significance, not specified 50,947,065(+) C/A 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs142847061 benign, not specified 50,932,347(+) T/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1000032741 -- 50,942,019(+) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ME2 Gene

Variant ID Type Subtype PubMed ID
esv3642520 CNV loss 21293372
esv3893102 CNV loss 25118596
nsv1113927 CNV deletion 24896259
nsv527714 CNV gain 19592680
nsv576892 CNV gain 21841781
nsv9630 CNV loss 18304495

Variation tolerance for ME2 Gene

Residual Variation Intolerance Score: 50.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.32; 70.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ME2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Human Gene Mutation Database (HGMD)

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ME2 Gene

Disorders for ME2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ME2 Gene - From: HGMD, DISEASES, and Novoseek

- elite association - COSMIC cancer census association via MalaCards
Search ME2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ME2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ME2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ME2 Gene

Publications for ME2 Gene

  1. Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy. (PMID: 16190936) Lenzen KP … Sander T (Epilepsia 2005) 3 23 45 58
  2. Physical and transcriptional map of a 311-kb segment of chromosome 18q21, a candidate lung tumor suppressor locus. (PMID: 11401430) Yanaihara N … Yokota J (Genomics 2001) 3 4 23 58
  3. Human NAD(+)-dependent mitochondrial malic enzyme. cDNA cloning, primary structure, and expression in Escherichia coli. (PMID: 1993674) Loeber G … Dworkin MB (The Journal of biological chemistry 1991) 2 3 4 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 58
  5. Mitochondrial malic enzyme (ME2) in pancreatic islets of the human, rat and mouse and clonal insulinoma cells. (PMID: 19691144) MacDonald MJ … Kendrick MA (Archives of biochemistry and biophysics 2009) 3 23 58

Products for ME2 Gene

Sources for ME2 Gene

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