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ME2 Gene

protein-coding   GIFtS: 67
GCID: GC18P048405

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

  See ME2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 opiate dependence, and idiopathic generalized epilepsy. GO annotations related to this gene include and electron carrier 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NC_018929.2  NT_010966.15  
Regulatory elements:
   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 Chromatin IP Primers for ME2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
Miscellaneous: This isoenzyme can also use NADP(+) but is more effective with NAD(+)
Selected 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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ME2 (P23368) (see all 12)
     VYTPTVG  FASGSPF  GIPVGKL  RNEKLFY 


    See ME2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000321070   ENSP00000372384  

    ME2 Human Recombinant Protein Products:

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    ProSpec Recombinant Protein for ME2
    Cloud-Clone Corp. Proteins for ME2

     
    Search eBioscience for Proteins for ME2 

     
    antibodies-online proteins for ME2 (145 products) 

     
    antibodies-online peptides for ME2

    ME2 Antibody Products:

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    Novus Biologicals ME2 Antibodies
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    antibodies-online antibodies for ME2 (7 products) 

    ME2 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ME2
    Cloud-Clone Corp. CLIAs for ME2
    Search eBioscience for ELISAs for ME2 
    antibodies-online kits for ME2 (9 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR012301 Malic_N_dom
     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


    Find genes that share domains with ME2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004471malate dehydrogenase (decarboxylating) (NAD+) activity IEA--
    GO:0008948oxaloacetate decarboxylase activity IEA--
    GO:0009055electron carrier activity TAS1993674
    GO:0046872metal ion binding IEA--
    GO:0051287NAD binding IEA--
         
    Find genes that share ontologies with ME2           About GenesLikeMe


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

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ME2

    miRNA
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    miRTarBase miRNAs that target ME2:
    hsa-mir-92a-3p (MIRT049487)

    Block miRNA regulation of human, mouse, rat ME2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ME2 (see all 14):
    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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    Predesigned siRNA for gene silencing in human, mouse, rat ME2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): ME2 (NM_002396)
    Sino Biological Human cDNA Clone for ME2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ME2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ME2
    Addgene plasmids for ME2 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ME2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MAOM_HUMAN, P23368: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    chloroplast2
    cytosol2
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with ME2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ME2 About    
    See pathways by source

    SuperPathContained pathways About
    1Carbon metabolism
    Carbon metabolism0.38
    2Pyruvate metabolism
    Pyruvate metabolism
    3Glucose / Energy Metabolism
    Glucose / Energy Metabolism


    Find genes that share SuperPaths with ME2           About GenesLikeMe

    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ME2
    Interactions:

        Search GeneGlobe Interaction Network for ME2

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

    Selected Interacting proteins for ME2 (P233682, 3 ENSP000003210704) via UniProtKB, MINT, STRING, and/or I2D (see all 311)
    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:    About this table

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

    Find genes that share ontologies with ME2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with ME2           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Selected qRT-PCR Assays for microRNAs that regulate ME2 (see all 14):
    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
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      QuantiFast Probe-based Assays in human, mouse, rat ME2

    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 

    Selected AceView cDNA sequences (see all 204):

    BM838057 AU142917 AI684161 CN481531 AW673765 BM461765 AI218090 AW169886 
    AA783031 BU620212 CB161114 AA887922 AI684313 AL044683 CD675599 CK430435 
    AI378497 CD108441 BM466026 AU185235 BQ029927 AA496055 BQ227035 AI432514 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ME2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Rostral Skull Membranous Bones
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ME2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ME2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.233119
        Custom PCR Arrays for ME2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ME2

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ME2 gene from Selected species (see all 19)    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
    80(a)
    65(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) YKL029C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NADP-ME31 NADP-ME3 56.55(n)
    52.48(a)
      832657  NM_122489.2  NP_197960.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g07234001 Os01g0723400 55.78(n)
    50.37(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)
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    Paralogs for ME2 gene
    ME32  ME12  
    Selected SIMAP similar genes for ME2 using alignment to 2 protein entries:     MAOM_HUMAN (see all proteins) (see all similar genes):
    PCDHB11    ME1    PCDHB3    ME3    PCDHB14    PCDHB6
    DKFZp586I1919    PCDHB7    ME4    PCDHB2    PCDHB9    PCDHAC2
    PCDHA3    PCDHGA1    PCDHGA10    PCDHA13    PCDHA8    PCDHGA3

    Find genes that share paralogs with ME2           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ME2 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ME2
    DNA2.0 Custom Variant and Variant Library Synthesis for ME2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 154270   
    OMIM disorders: 600669  610064  
    3 diseases for ME2:    
    About MalaCards
    opiate dependence    idiopathic generalized epilepsy    fascioliasis

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

    Find genes that share disorders with ME2           About GenesLikeMe

    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)
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    PubMed articles for ME2 gene, integrated from 10 sources (see all 54):
    (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. (J. Biol. Chem. 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. (Epilepsia 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. (Genomics 2001)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 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. (Nat. Biotechnol. 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. (Structure 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. (Structure 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. (Nat. Struct. Biol. 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. (Structure 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. (Arch. Biochem. Biophys. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4200 HGNC: 6984 AceView: ME2 Ensembl:ENSG00000082212 euGenes: HUgn4200
    ECgene: ME2 Kegg: 4200 H-InvDB: ME2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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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