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MDH2 malate dehydrogenase 2 [ Homo sapiens (human) ]

Gene ID: 4191, updated on 6-Jan-2019

Summary

Official Symbol
MDH2provided by HGNC
Official Full Name
malate dehydrogenase 2provided by HGNC
Primary source
HGNC:HGNC:6971
See related
Ensembl:ENSG00000146701 MIM:154100
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

Genomic context

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

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 FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
nucleus HDA PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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, ENST00000432020.2
    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, ENST00000443006.5
    Conserved Domains (1) summary
    cd01337
    Location:1227
    MDH_glyoxysomal_mitochondrial; Glyoxysomal and mitochondrial malate dehydrogenases
  3. NM_005918.4NP_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)
    AC005077, AC006330
    Consensus CDS
    CCDS5581.1
    UniProtKB/Swiss-Prot
    P40926
    UniProtKB/TrEMBL
    A0A024R4K3, B3KTM1
    Related
    ENSP00000327070.5, ENST00000315758.9
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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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