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Aliases for ME2 Gene

Aliases for ME2 Gene

  • Malic Enzyme 2 2 3 4 5
  • Malate Dehydrogenase (Oxaloacetate-Decarboxylating) 2 3
  • Malic Enzyme 2, NAD(+)-Dependent, Mitochondrial 2 3
  • NAD-Dependent Malic Enzyme, Mitochondrial 2 3
  • NAD-ME 3 4
  • Pyruvic-Malic Carboxylase 3
  • EC 1.1.1.38 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 Generalized Epilepsy With Febrile Seizures Plus. Among its related pathways are Carbon metabolism and Pyruvate metabolism. Gene Ontology (GO) annotations related to this gene include electron transfer activity and malic enzyme activity. An important paralog of this gene is ME1.

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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18I050877 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 570.1 +0.4 370 3.3 HDGF PKNOX1 ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B ZNF207 ZNF143 ME2 MBD1 MEX3C CXXC1 GC18P050945
GH18I051027 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 20 +151.3 151342 4.5 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF48 YY1 POLR2B GLIS2 LOC105372117 SMAD4 GC18M051028 ME2 MRO RPL17P46 ENSG00000267699 GC18P050945
GH18I050853 Enhancer 1.2 FANTOM5 Ensembl ENCODE 21.4 -24.2 -24181 2.2 KLF1 MZF1 CEBPG FOSL1 ZNF316 TRIM24 FOSL2 MAFK TCF7L2 RXRA ME2 GC18M050796 MRO
GH18I050967 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.3 +89.8 89803 2.1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ZNF207 ZNF143 REST ELAC1 ENSG00000267699 CXXC1 MBD1 SMAD4 ME2 GC18P050945 GC18M050997
GH18I050836 Enhancer 1 Ensembl ENCODE 10.1 -41.8 -41843 0.7 HDAC1 PKNOX1 INSM2 ZNF76 FEZF1 ZEB1 ZNF366 ZNF350 ATF7 FOS CXXC1 MBD1 ME2 MRO GC18M050796
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ME2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ME2 gene promoter:

Genomic Locations for ME2 Gene

Genomic Locations for ME2 Gene
chr18:50,878,604-50,954,257
(GRCh38/hg38)
Size:
75,654 bases
Orientation:
Plus strand
chr18:48,405,419-48,476,165
(GRCh37/hg19)

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

Selected DME Specific Peptides for ME2 Gene

P23368:
  • FASGSPF
  • GRLYPPL
  • YTPTVGLAC
  • GAGEAALGIA
  • NKGMAFTL
  • VTDGERILGLGD
  • IFALSNPT
  • GIPVGKL
  • VYTPTVG
  • RILGLGDLG
  • FNDDIQGT
  • RNEKLFY

Post-translational modifications for ME2 Gene

No Post-translational modifications

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

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

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

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 --
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 Model Products

CRISPR Products

Inhibitory RNA 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
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 3
nucleus 1

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 IBA,IDA --
GO:0005759 mitochondrial matrix IEA --
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

1 Cell Signaling Technology pathway for ME2 Gene
2 KEGG pathways 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 --
GO:0006108 malate metabolic process IBA --
GO:0008152 metabolic process IEA --
GO:0022900 electron transport chain IEA --
GO:0055114 oxidation-reduction process 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 Nutra 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Manganese Approved Nutra 37
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
  • 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
Mesoxalic acid
  • 2-Oxomalonic acid
  • 2-Oxopropanedioic acid
  • alpha-Ketomalonic acid
  • Ketomalonic acid
  • Mesoxalate
473-90-5
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:

CRISPR Products

Inhibitory RNA 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 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, PaxDb, MaxQB, and MOPED for ME2 Gene



Protein tissue co-expression partners for ME2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ME2 Gene:

ME2

SOURCE GeneReport for Unigene cluster for ME2 Gene:

Hs.233119

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia ME2 33 34
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia ME2 33 34
  • 90.64 (n)
cow
(Bos Taurus)
Mammalia ME2 33 34
  • 90.24 (n)
rat
(Rattus norvegicus)
Mammalia Me2 33
  • 85.27 (n)
mouse
(Mus musculus)
Mammalia Me2 33 16 34
  • 85.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 85 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ME2 34
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 80 (a)
OneToMany
-- 34
  • 65 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia me2 33
  • 71.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia me2 33
zebrafish
(Danio rerio)
Actinopterygii me2 34 34
  • 75 (a)
OneToMany
LOC100537927 33
  • 66.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mdh 35
  • 54 (a)
Men 35 34
  • 51 (a)
Men-b 34
  • 48 (a)
ManyToMany
Menl-1 35
  • 45 (a)
Menl-2 35
  • 42 (a)
CG7848 35 34
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea Y48B6A.12 35
  • 50 (a)
men-1 34
  • 46 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAE1 34
  • 30 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons NADP-ME3 33
  • 56.55 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3190 33
rice
(Oryza sativa)
Liliopsida Os01g0723400 33
  • 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

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 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
rs1000032741 -- 50,942,019(+) A/T intron_variant
rs1000073826 -- 50,940,655(+) G/A/C 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

Human Gene Mutation Database (HGMD)
ME2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, DISEASES, and Novoseek

Disorder Aliases PubMed IDs
epilepsy, idiopathic generalized
  • eig
generalized epilepsy with febrile seizures plus
  • gefs+
epilepsy, idiopathic generalized 10
  • epilepsy, idiopathic generalized, susceptibility to, 10
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 22 44 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 22 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 44 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 22 58

Products for ME2 Gene

Sources for ME2 Gene

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