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Aliases for ME2 Gene

Aliases for ME2 Gene

  • Malic Enzyme 2 2 3 4
  • Malic Enzyme 2, NAD(+)-Dependent, Mitochondrial 2 3 5
  • Malate Dehydrogenase (Oxaloacetate-Decarboxylating) 2 3
  • NAD-ME 3 4
  • NAD-Dependent Malic Enzyme 2
  • Pyruvic-Malic Carboxylase 3
  • Malate Dehydrogenase 3
  • Mitochondrial 2
  • EC 1.1.1.38 4
  • EC 1.1.1 63
  • 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 idiopathic generalized epilepsy and generalized epilepsy with febrile seizures plus. Among its related pathways are Pyruvate metabolism and Carbon metabolism. GO annotations related to this gene include electron carrier activity and malic enzyme activity. An important paralog of this gene is ME1.

Gene Wiki entry for ME2 Gene

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

Genomics for ME2 Gene

Regulatory Elements for ME2 Gene

Promoters for ME2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ME2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ME2 Gene

Chromosome:
18
Start:
50,878,604 bp from pter
End:
50,954,257 bp from pter
Size:
75,654 bases
Orientation:
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:
    P23368-MAOM_HUMAN
    Recommended name:
    NAD-dependent malic enzyme, mitochondrial
    Protein Accession:
    P23368
    Secondary Accessions:
    • B2R8J2
    • Q9BWL6
    • Q9BYG1
    • Q9H4B2

    Protein attributes for ME2 Gene

    Size:
    584 amino acids
    Molecular mass:
    65444 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homotetramer.
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ME2 Gene

Proteomics data for ME2 Gene at MOPED

Post-translational modifications for ME2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ME2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ME2 (ME2)

Domains & Families for ME2 Gene

Protein Domains for ME2 Gene

Suggested Antigen Peptide Sequences for ME2 Gene

Graphical View of Domain Structure for InterPro Entry

P23368

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for ME2 Gene

Function for ME2 Gene

Molecular function for ME2 Gene

GENATLAS Biochemistry:
malic enzyme 2,mitochondrial
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-malate + NAD(+) = pyruvate + CO(2) + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
Oxaloacetate = pyruvate + CO(2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Subject to allosteric activation by fumarate.

Enzyme Numbers (IUBMB) for ME2 Gene

Gene Ontology (GO) - Molecular Function for ME2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004470 malic enzyme activity IMP 23334421
GO:0004471 malate dehydrogenase (decarboxylating) (NAD+) activity IEA --
GO:0008948 oxaloacetate decarboxylase activity IEA --
genes like me logo Genes that share ontologies with ME2: view
genes like me logo Genes that share phenotypes with ME2: view

Animal Model Products

miRNA for ME2 Gene

miRTarBase miRNAs that target ME2

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , 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

COMPARTMENTS
Jensen Localization Image for ME2 Gene COMPARTMENTS Subcellular localization image for ME2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
chloroplast 2
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for ME2 Gene

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

Gene Ontology (GO) - Biological Process for ME2 Gene

None

No data available for SIGNOR curated interactions for ME2 Gene

Drugs & Compounds for ME2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyruvic acid Approved Nutra 0
SB-649868 Experimental Pharma Antagonist, Target 0
Mesoxalic acid Experimental Pharma Target 0
Malate Ion Experimental Pharma Target 0
tartronate Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
Hydroxypropanedioic acid
  • 2-Hydroxymalonate
  • 2-Hydroxymalonic acid
  • 2-Hydroxypropanedioic acid
  • 2-Tartronic acid
  • Hydroxy-Malonic acid
80-69-3
L-Malic acid
  • (-)-(S)-Malate
  • (-)-(S)-Malic acid
  • (-)-Hydroxysuccinate
  • (-)-Hydroxysuccinic acid
  • (-)-L-Malic acid
97-67-6
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
genes like me logo Genes that share compounds with ME2: view

Transcripts for ME2 Gene

Unigene Clusters for ME2 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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: - - -
SP3:
SP4: -

Relevant External Links for ME2 Gene

GeneLoc Exon Structure for
ME2
ECgene alternative splicing isoforms for
ME2

Expression for ME2 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for ME2 Gene



SOURCE GeneReport for Unigene cluster for ME2 Gene Hs.233119

genes like me logo Genes that share expression patterns with ME2: view

Protein tissue co-expression partners for ME2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia ME2 35
  • 90.24 (n)
  • 91.95 (a)
ME2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ME2 35
  • 90.64 (n)
  • 91.61 (a)
ME2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Me2 35
  • 85.22 (n)
  • 89.04 (a)
Me2 16
Me2 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ME2 35
  • 99.54 (n)
  • 99.66 (a)
ME2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Me2 35
  • 85.27 (n)
  • 88.7 (a)
oppossum
(Monodelphis domestica)
Mammalia ME2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 65 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia me2 35
  • 71.27 (n)
  • 78.41 (a)
African clawed frog
(Xenopus laevis)
Amphibia me2 35
zebrafish
(Danio rerio)
Actinopterygii me2 35
  • 66.21 (n)
  • 75.52 (a)
me2 36
  • 75 (a)
OneToMany
me2 36
  • 75 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7848 37
  • 37 (a)
Mdh 37
  • 54 (a)
Men 37
  • 51 (a)
Menl-1 37
  • 45 (a)
Menl-2 37
  • 42 (a)
CG7848 36
  • 32 (a)
ManyToMany
Men 36
  • 37 (a)
ManyToMany
Men-b 36
  • 48 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y48B6A.12 37
  • 50 (a)
men-1 36
  • 46 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAE1 36
  • 30 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons NADP-ME3 35
  • 56.55 (n)
  • 52.48 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3190 35
rice
(Oryza sativa)
Liliopsida Os01g0723400 35
  • 55.78 (n)
  • 50.37 (a)
Species with no ortholog for ME2:
  • 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

ENSEMBL:
Gene Tree for ME2 (if available)
TreeFam:
Gene Tree for ME2 (if available)

Paralogs for ME2 Gene

Paralogs for ME2 Gene

Pseudogenes.org 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 Sequence Context AA Info Type
rs16952692 - 50,912,899(+) TACAC(C/T)GACGG nc-transcript-variant, reference, missense
rs649224 - 50,932,292(-) CTGGC(C/T)CAAAT nc-transcript-variant, reference, missense
rs12277 -- 50,947,383(+) CTACA(A/G)TCAGA nc-transcript-variant, utr-variant-3-prime
rs623306 -- 50,888,034(+) GTGGT(A/G)GATAA intron-variant
rs600170 -- 50,928,426(-) CCCAT(A/C)TCTAC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv9630 CNV Loss 18304495
nsv527714 CNV Gain 19592680

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)

Relevant External Links for ME2 Gene

HapMap Linkage Disequilibrium report
ME2

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

Disorders for ME2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ME2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
idiopathic generalized epilepsy
  • generalised epilepsy
generalized epilepsy with febrile seizures plus
  • gefs+
epilepsy, generalized, with febrile seizures plus, type 5
  • epilepsy, idiopathic generalized, 10
- elite association - COSMIC cancer census association via MalaCards
Search ME2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ME2

Genetic Association Database (GAD)
ME2
Human Genome Epidemiology (HuGE) Navigator
ME2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ME2
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. Human NAD(+)-dependent mitochondrial malic enzyme. cDNA cloning, primary structure, and expression in Escherichia coli. (PMID: 1993674) Loeber G. … Dworkin M.B. (J. Biol. Chem. 1991) 2 3 4 67
  2. Mitochondrial malic enzyme (ME2) in pancreatic islets of the human, rat and mouse and clonal insulinoma cells. (PMID: 19691144) MacDonald M.J. … Kendrick M.A. (Arch. Biochem. Biophys. 2009) 3 23
  3. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  4. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  5. Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. (PMID: 15532013) Greenberg D.A. … Kang H. (Am. J. Hum. Genet. 2005) 3 23

Products for ME2 Gene

Sources for ME2 Gene

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