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    MDH2 malate dehydrogenase 2 [ Homo sapiens (human) ]

    Gene ID: 4191, updated on 8-Jul-2018
    Official Symbol
    MDH2provided by HGNC
    Official Full Name
    malate dehydrogenase 2provided by HGNC
    Primary source
    HGNC:HGNC:6971
    See related
    Ensembl:ENSG00000146701 MIM:154100; Vega:OTTHUMG00000023827
    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
    MDH; MOR1; M-MDH; EIEE51; MGC:3559
    Summary
    Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
    Expression
    Ubiquitous expression in heart (RPKM 76.5), duodenum (RPKM 46.8) and 25 other tissues See more
    Orthologs
    See MDH2 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (76048019..76067508)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (75677182..75696826)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene cytochrome p450 oxidoreductase Neighboring gene small nucleolar RNA, H/ACA box 14A Neighboring gene transmembrane protein 120A Neighboring gene serine/threonine/tyrosine interacting like 1 Neighboring gene RNA, U6 small nuclear 863, pseudogene Neighboring gene general transcription factor IIi pseudogene 7

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of malate dehydrogenase 2 (MDH2) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human malate dehydrogenase 2, NAD, mitochondrial (MDH2) at amino acid residues 94-95 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L-malate dehydrogenase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    L-malate dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    L-malate dehydrogenase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    RNA binding HDA PubMed 
    malate dehydrogenase (NADP+) activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein self-association IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    NADH metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    aerobic respiration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    gluconeogenesis TAS
    Traceable Author Statement
    more info
     
    internal protein amino acid acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    malate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    malate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    oxaloacetate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    tricarboxylic acid cycle TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion HDA PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus HDA PubMed 
    Preferred Names
    malate dehydrogenase, mitochondrial
    Names
    malate dehydrogenase 2, NAD (mitochondrial)
    testicular tissue protein Li 120
    NP_001269332.1
    NP_001269333.1
    NP_005909.2

    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_052976.1 RefSeqGene

      Range
      5001..24490
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282403.1NP_001269332.1  malate dehydrogenase, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AA214555, AK095803, AK290779, AK293460, BP382246, DC354622
      Consensus CDS
      CCDS64691.1
      UniProtKB/Swiss-Prot
      P40926
      UniProtKB/TrEMBL
      B3KTM1
      Related
      ENSP00000408649.2, OTTHUMP00000210119, ENST00000432020.2, OTTHUMT00000344677
      Conserved Domains (2) summary
      TIGR01772
      Location:26294
      MDH_euk_gproteo; malate dehydrogenase, NAD-dependent
      cd01337
      Location:26292
      MDH_glyoxysomal_mitochondrial; Glyoxysomal and mitochondrial malate dehydrogenases
    2. NM_001282404.1NP_001269333.1  malate dehydrogenase, mitochondrial isoform 3

      See identical proteins and their annotated locations for NP_001269333.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1, that causes translation to begin at a downstream AUG. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AA214555, AK095803, AK290779, BP382246, DC354622
      Consensus CDS
      CCDS75622.1
      UniProtKB/Swiss-Prot
      P40926
      UniProtKB/TrEMBL
      B3KTM1, G3XAL0
      Related
      ENSP00000416929.1, OTTHUMP00000210118, ENST00000443006.5, OTTHUMT00000344676
      Conserved Domains (1) summary
      cd01337
      Location:1227
      MDH_glyoxysomal_mitochondrial; Glyoxysomal and mitochondrial malate dehydrogenases
    3. NM_005918.3NP_005909.2  malate dehydrogenase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_005909.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA214555, AF047470, AK095803, BP382246, DC354622
      Consensus CDS
      CCDS5581.1
      UniProtKB/Swiss-Prot
      P40926
      UniProtKB/TrEMBL
      A0A024R4K3, B3KTM1
      Related
      ENSP00000327070.5, OTTHUMP00000161017, ENST00000315758.9, OTTHUMT00000252851
      Conserved Domains (2) summary
      TIGR01772
      Location:26336
      MDH_euk_gproteo; malate dehydrogenase, NAD-dependent
      cd01337
      Location:26334
      MDH_glyoxysomal_mitochondrial; Glyoxysomal and mitochondrial malate dehydrogenases

    RNA

    1. NR_104165.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) shares only the first exon and then has a unique exon compared to variant 1. This variant is represented as non-coding because it lacks most of the coding region compared to variant 1.
      Source sequence(s)
      AI793009, BM463639, BP382246, DC354622
      Related
      ENST00000461263.2, OTTHUMT00000344185

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

      Range
      76048019..76067508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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