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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ME2 Gene

protein-coding   GIFtS: 67
GCID: GC18P048405

Malic Enzyme 2, NAD(+)-Dependent, Mitochondrial

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Malic Enzyme 2, NAD(+)-Dependent, Mitochondrial1 2     Pyruvic-Malic Carboxylase2
NAD-ME2 3     EC 1.1.1.383
ODS12 5     Malic Enzyme 23
Malate Dehydrogenase2     EC 1.1.18
NAD-Dependent Malic Enzyme, Mitochondrial2     

External Ids:    HGNC: 69841   Entrez Gene: 42002   Ensembl: ENSG000000822127   OMIM: 1542705   UniProtKB: P233683   

Export aliases for ME2 gene to outside databases

Previous GC identifers: GC18P048588 GC18P048341 GC18P046657 GC18P046659 GC18P045260


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, NAD(+)-dependent, mitochondrial) is a protein-coding gene. Diseases associated with ME2 include idiopathic generalized epilepsy, and friedreich ataxia, and among its related super-pathways are Biosynthesis of amino acids. GO annotations related to this gene include electron carrier activity and malate dehydrogenase (oxaloacetate-decarboxylating) activity. An important paralog of this gene is ME3.

Gene Wiki entry for ME2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.2  NT_010966.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ME2 gene promoter:
         AP-1   ATF-2   POU6F1 (c2)   POU2F1   POU2F1a   HSF2   FOXO1a   Cart-1   c-Jun   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ME2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ME2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ME2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21   Ensembl cytogenetic band:  18q21.2   HGNC cytogenetic band: 18q21

ME2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ME2 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P048405:  view genomic region     (about GC identifiers)

Start:
48,405,419 bp from pter      End:
48,476,165 bp from pter
Size:
70,747 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MAOM_HUMAN, P23368 (See protein sequence)
Recommended Name: NAD-dependent malic enzyme, mitochondrial precursor  
Size: 584 amino acids; 65444 Da
Cofactor: Divalent metal cations. Prefers magnesium or manganese
Subunit: Homotetramer
Subcellular location: Mitochondrion matrix
Miscellaneous: This isoenzyme can also use NADP(+) but is more effective with NAD(+)
6/10 PDB 3D structures from and Proteopedia for ME2 (see all 10):
1DO8 (3D)        1EFK (3D)        1EFL (3D)        1GZ3 (3D)        1GZ4 (3D)        1PJ2 (3D)    
Secondary accessions: B2R8J2 Q9BWL6 Q9BYG1 Q9H4B2
Alternative splicing: 2 isoforms:  P23368-1   P23368-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ME2: NX_P23368

Explore proteomics data for ME2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P23368

  • 4/12 DME Specific Peptides for ME2 (P23368) (see all 12)
     VYTPTVG  FASGSPF  GIPVGKL  RNEKLFY 

    ME2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ME2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001161807.1  NP_002387.1  

    ENSEMBL proteins: 
     ENSP00000321070   ENSP00000372384  

    Human Recombinant Protein Products for ME2: 
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    Cloud-Clone Corp. Proteins for ME2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    ME2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for ME2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR012301 Malic_N
     IPR012302 Malic_NAD-bd
     IPR015884 Malic_enzyme_CS
     IPR001891 Malic_OxRdtase
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P23368

    ProtoNet protein and cluster: P23368

    1 Blocks protein domain: IPB001891 Malic oxidoreductase

    UniProtKB/Swiss-Prot: MAOM_HUMAN, P23368
    Similarity: Belongs to the malic enzymes family


    ME2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MAOM_HUMAN, P23368
    Catalytic activity: (S)-malate + NAD(+) = pyruvate + CO(2) + NADH
    Catalytic activity: Oxaloacetate = pyruvate + CO(2)
    Enzyme regulation: Subject to allosteric activation by fumarate

         Genatlas biochemistry entry for ME2:
    malic enzyme 2,mitochondrial

         Enzyme Numbers (IUBMB): EC 1.1.1.381 EC 1.1.12

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004471malate dehydrogenase (decarboxylating) activity TAS1993674
    GO:0009055electron carrier activity TAS1993674
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
    GO:0016619malate dehydrogenase (oxaloacetate-decarboxylating) activity IEA--
    GO:0046872metal ion binding IEA--
         
    ME2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ME2:
     G0/1 arrest  Increased G1 DNA content  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ME2 
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    hsa-miR-668 hsa-miR-513a-3p hsa-miR-1271 hsa-miR-570 hsa-miR-23b* hsa-miR-1276 hsa-miR-182 hsa-miR-654-5p
    SwitchGear 3'UTR luciferase reporter plasmidME2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ME2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Carbon metabolism
    Carbon metabolism0.37
    2Pyruvate metabolism
    Pyruvate metabolism
    3Glucose / Energy Metabolism
    Glucose / Energy Metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ME2
        Glucose / Energy Metabolism



    2         Kegg Pathways  (Kegg details for ME2):
        Pyruvate metabolism
    Carbon metabolism


    ME2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ME2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/270 Interacting proteins for ME2 (P233682, 3 ENSP000003210704) via UniProtKB, MINT, STRING, and/or I2D (see all 270)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    ATICP319393, ENSP000002369594I2D: score=1 STRING: ENSP00000236959
    USP15Q9Y4E83, ENSP000002581234I2D: score=1 STRING: ENSP00000258123
    WNK1Q9H4A33, ENSP000003130594I2D: score=1 STRING: ENSP00000313059
    RAB11AP624913, ENSP000002618904I2D: score=1 STRING: ENSP00000261890
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006108malate metabolic process IEA--
    GO:0055114oxidation-reduction process ----

    ME2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ME2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ME2 (MAOM)

    10 HMDB Compounds for ME2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    L-Malic acid(-)-(S)-Malate (see all 27)97-67-6--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Malic acid2-Hydroxybutanedioic acid (see all 24)6915-15-7--
    Manganesemanganese 7439-96-5--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Pyruvic acid2-Oxopropanoate (see all 14)127-17-3--

    6 DrugBank Compounds for ME2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-Ketomalonic Acid-- --target--17139284 17016423
    Fumarate-- 110-17-8target--17139284 17016423
    Malate Ion-- --target--17139284 17016423
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423
    Tartronate-- --target--17139284 17016423

    8 Novoseek inferred chemical compound relationships for ME2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fumarate 76 4 12911313 (1), 14596586 (1), 19691144 (1), 7496989 (1)
    malate 74.9 6 7496989 (2), 17258816 (1), 11401430 (1), 15532013 (1) (see all 5)
    oxaloacetate 61.2 1 7757881 (1)
    pyruvate 56.9 3 11696011 (1), 7757881 (1), 15532013 (1)
    atp 36.1 5 15182181 (3), 14596586 (1), 19691144 (1)
    nadh 31.9 1 12853453 (1)
    gaba 19.9 3 17258816 (1), 15532013 (1)
    magnesium 18.9 1 12853453 (1)

    Search CenterWatch for drugs/clinical trials and news about ME2 / MAOM

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ME2 gene (2 alternative transcripts): 
    NM_001168335.1  NM_002396.4  

    Unigene Cluster for ME2:

    Malic enzyme 2, NAD(+)-dependent, mitochondrial
    Hs.233119  [show with all ESTs]
    Unigene Representative Sequence: NM_002396
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000321341 ENST00000382927(uc002ley.3 uc010dpd.3) ENST00000589330
    ENST00000585680 ENST00000591925

    miRNA
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    hsa-miR-668 hsa-miR-513a-3p hsa-miR-1271 hsa-miR-570 hsa-miR-23b* hsa-miR-1276 hsa-miR-182 hsa-miR-654-5p
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    Additional mRNA sequence: 

    AJ294818.1 AK313391.1 BC000147.1 M55905.1 

    9 DOTS entries:

    DT.92433295  DT.117136  DT.100819457  DT.102819816  DT.100715743  DT.100721863  DT.100819453  DT.100819455 
    DT.95271673 

    24/204 AceView cDNA sequences (see all 204):

    AA887922 CA389748 AU185235 CD675599 CK430435 CB114592 AA783031 BM461765 
    BI762261 CB161114 AA883256 BQ227035 AA496055 BC000147 BQ888811 AI218090 
    AU142917 AW169886 AI684161 BI089765 AW589736 AW673765 AI684313 AI654882 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ME2    About this scheme

    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:                                                                                                        -                           


    ECgene alternative splicing isoforms for ME2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ME2 expression in normal human tissues (normalized intensities)      ME2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGTCTCCACA
    ME2 Expression
    About this image


    ME2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/46 selected tissues (see all 46) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Cerebral Cortex
             ganglion/cranial/vagus X   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Epithelium
             oral mucosa ; squamous epithelial cells   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Thoracic Rib
             skeleton/cranium   

    See ME2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ME2

    SOURCE GeneReport for Unigene cluster: Hs.233119
        SABiosciences Custom PCR Arrays for ME2
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ME2 gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Me21 , 5 malic enzyme 2, NAD(+)-dependent, mitochondrial1, 5 85.22(n)1
    89.04(a)1
      18 (49.95 cM)5
    1070291  NM_145494.21  NP_663469.11 
     737700405 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Malic enzyme
    81(a)
    63(a)
    1 ↔ many
    1 ↔ many
    GL343471.1(421691-462387)
    GL343386.1(404715-407567)
    African clawed frog
    (Xenopus laevis)
    Amphibia me22 malic enzyme 2 76.96(n)    AY225508.1 
    zebrafish
    (Danio rerio)
    Actinopterygii me21 malic enzyme 2, NAD(+)-dependent, mitochondrial 66.21(n)
    75.52(a)
      445233  NM_001003627.2  NP_001003627.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mdh3 malate dehydrogenase (oxaloacetate
    decarboxylating) more
    54(a)
    (best of 5)
      97E5   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y48B6A.123   -- 50(a)   II(14226477-14233689)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MAE16
    Mitochondrial malic enzyme, catalyzes the oxidativ...
    30(a)
    1 → many
    XI(382716-384725)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NADP-ME31 malate dehydrogenase (oxaloacetate-decarboxylating)(NADP+) 56.07(n)
    51.59(a)
      832657  NM_122489.2  NP_197960.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g07234001 hypothetical protein 56.31(n)
    50.95(a)
      4324717  NM_001050642.1  NP_001044107.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ME2 gene
    ME32  ME12  
    18/44 SIMAP similar genes for ME2 using alignment to 2 protein entries:     MAOM_HUMAN (see all proteins) (see all similar genes):
    PCDHB11    PCDHB12    ME1    PCDHB3    PCDHB8    ME3
    PCDHB14    PCDHB6    DKFZp586I1919    PCDHB7    ME4    PCDHB2
    PCDHB9    PCDHAC2    PCDHA3    PCDHGA1    PCDHGA10    PCDHA13

    ME2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ME2
    PGOHUM00000235999


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1408 SNPs in ME2 are shown (see all 1408)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1385085451,2
    --48403685(+) GGAAAG/TAAATT 2 -- us2k10--------
    rs1415752291,2
    --48403710(+) CCAGAA/GAACAG 2 -- us2k10--------
    rs1876693481,2
    --48403754(+) AATAAA/GGAATA 2 -- us2k10--------
    rs28505421,2
    C,F,A,H--48403773(-) GCTTAA/CATTGA 2 -- us2k123Minor allele frequency- C:0.49NS EA NA WA CSA 2337
    rs1920608621,2
    --48403787(+) ATAAGC/TTCCCT 2 -- us2k10--------
    rs1462125431,2
    --48403825(+) CTGGGA/CTTATT 2 -- us2k10--------
    rs1379516611,2
    --48403937(+) GGGAGA/GCCGAA 2 -- us2k10--------
    rs1835142251,2
    --48404110(+) GGCGGA/GGGTTT 2 -- us2k10--------
    rs6744881,2
    C,F--48404180(-) TTTTTC/ATTTCG 2 -- us2k1 trp36Minor allele frequency- A:0.32NA WA EA 364
    rs6740441,2
    C,F,A--48404279(-) ATAAGC/TATGTA 2 -- us2k18Minor allele frequency- T:0.33NA WA EA 370

    HapMap Linkage Disequilibrium report for ME2 (48405419 - 48476165 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ME2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv9630CNV Loss18304495
    nsv527714CNV Gain19592680

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 154270   
    OMIM disorders: 600669  610064  
    13 diseases for ME2:    About MalaCards
    idiopathic generalized epilepsy    friedreich ataxia    psychotic disorder    fascioliasis
    ataxia    insulinoma    tuberculosis    alzheimer's disease
    thyroiditis    pancreatitis    breast cancer    leukemia
    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for ME2:
    Idiopathic generalized epilepsy     Fascioliasis

    ME2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for ME2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epilepsy, idiopathic generalized 73.1 3 16190936 (1), 15532013 (1)
    epilepsy generalized 69.5 4 16049035 (1), 16278970 (1)
    tumors 0 1 1761063 (1)

    Genetic Association Database (GAD): ME2
    Human Genome Epidemiology (HuGE) Navigator: ME2 (9 documents)

    Export disorders for ME2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ME2 gene, integrated from 9 sources (see all 53):
    (articles sorted by number of sources associating them with ME2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human NAD(+)-dependent mitochondrial malic enzyme. cDNA cloning, primary structure, and expression in Escherichia coli. (PubMed id 1993674)1, 2, 3 Loeber G.... Dworkin M.B. (1991)
    2. Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy. (PubMed id 16190936)1, 4, 9 Lenzen K.P....Sander T. (2005)
    3. Physical and transcriptional map of a 311-kb segment of chromosome 18q21, a candidate lung tumor suppressor locus. (PubMed id 11401430)1, 2, 9 Yanaihara N.... Yokota J. (2001)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    6. Crystal structures of substrate complexes of malic enzyme and insights into the catalytic mechanism. (PubMed id 12962632)1, 2 Tao X.... Tong L. (2003)
    7. Molecular mechanism for the regulation of human mitochondrial NAD(P)+-dependent malic enzyme by ATP and fumarate. (PubMed id 12121650)1, 2 Yang Z.... Tong L. (2002)
    8. Structure of a closed form of human malic enzyme and implications for catalytic mechanism. (PubMed id 10700286)1, 2 Yang Z.... Tong L. (2000)
    9. Crystal structure of human mitochondrial NAD(P)(+)-dependent malic enzyme: a new class of oxidative decarboxylases. (PubMed id 10467136)1, 2 Xu Y.... Tong L. (1999)
    10. Mitochondrial malic enzyme (ME2) in pancreatic islets of the human, rat and mouse and clonal insulinoma cells. (PubMed id 19691144)1, 9 MacDonald M.J....Kendrick M.A. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4200 HGNC: 6984 AceView: ME2 Ensembl:ENSG00000082212 euGenes: HUgn4200
    ECgene: ME2 Kegg: 4200 H-InvDB: ME2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ME2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ME2 gene:
    Search GeneIP for patents involving ME2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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