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    ME2 malic enzyme 2 [ Homo sapiens (human) ]

    Gene ID: 4200, updated on 9-Dec-2024

    Summary

    Official Symbol
    ME2provided by HGNC
    Official Full Name
    malic enzyme 2provided by HGNC
    Primary source
    HGNC:HGNC:6984
    See related
    Ensembl:ENSG00000082212 MIM:154270; AllianceGenome:HGNC:6984
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ODS1
    Summary
    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]
    Expression
    Ubiquitous expression in duodenum (RPKM 15.0), colon (RPKM 14.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ME2 in Genome Data Viewer
    Location:
    18q21.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (50879118..50954257)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (51080843..51155984)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (48405488..48480627)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:48346071-48346704 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 16 Neighboring gene maestro Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13322 Neighboring gene ribosomal protein L17 pseudogene 46 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:48405277-48405778 Neighboring gene MPRA-validated peak3150 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9459 Neighboring gene MPRA-validated peak3151 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9460 Neighboring gene uncharacterized LOC107985152 Neighboring gene elaC ribonuclease Z 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:48518398-48518898 Neighboring gene Sharpr-MPRA regulatory region 8611 Neighboring gene Sharpr-MPRA regulatory region 5267 Neighboring gene uncharacterized LOC124904303

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables electron transfer activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables malate dehydrogenase (decarboxylating) (NAD+) activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables malate dehydrogenase (decarboxylating) (NADP+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables malic enzyme activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxaloacetate decarboxylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in malate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in pyruvate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of NADP metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    NAD-dependent malic enzyme, mitochondrial
    Names
    NAD-ME
    malate dehydrogenase (oxaloacetate-decarboxylating)
    malic enzyme 2, NAD(+)-dependent, mitochondrial
    pyruvic-malic carboxylase
    NP_001161807.1
    NP_002387.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016198.2 RefSeqGene

      Range
      5002..80141
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001168335.2NP_001161807.1  NAD-dependent malic enzyme, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001161807.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC087687, BC000147, BI465083, CD370709
      Consensus CDS
      CCDS54187.1
      UniProtKB/TrEMBL
      A0A1W2PQF8
      Related
      ENSP00000372384.2, ENST00000382927.3
      Conserved Domains (1) summary
      PLN03129
      Location:28473
      PLN03129; NADP-dependent malic enzyme; Provisional
    2. NM_002396.5NP_002387.1  NAD-dependent malic enzyme, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_002387.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC087687, AK313391, BI559761, CD370709, M55905
      Consensus CDS
      CCDS11948.1
      UniProtKB/Swiss-Prot
      B2R8J2, P23368, Q9BWL6, Q9BYG1, Q9H4B2
      UniProtKB/TrEMBL
      A0A1W2PQH3
      Related
      ENSP00000321070.5, ENST00000321341.11
      Conserved Domains (3) summary
      cd05312
      Location:280558
      NAD_bind_1_malic_enz; NAD(P) binding domain of malic enzyme (ME), subgroup 1
      PLN03129
      Location:28566
      PLN03129; NADP-dependent malic enzyme; Provisional
      pfam00390
      Location:89270
      malic; Malic enzyme, N-terminal domain

    RNA

    1. NR_174094.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC015864, AC087687

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      50879118..50954257
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      51080843..51155984
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)