U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

MDH2 malate dehydrogenase 2 [ Homo sapiens (human) ]

Gene ID: 4191, updated on 3-Nov-2024

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; AllianceGenome:HGNC:6971
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; DEE51; 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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See MDH2 in Genome Data Viewer
Location:
7q11.23
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (76048106..76067508)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (77335642..77355027)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (75677424..75696826)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene cytochrome p450 oxidoreductase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26186 Neighboring gene Sharpr-MPRA regulatory region 3792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18304 Neighboring gene transmembrane protein 120A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75630123-75630623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26188 Neighboring gene serine/threonine/tyrosine interacting like 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75648513-75649014 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75676791-75677573 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75677574-75678355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26192 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75700542-75701066 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 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?

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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in NADH metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in aerobic respiration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in gluconeogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in malate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in malate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in malate-aspartate shuttle TAS
Traceable Author Statement
more info
 
involved_in tricarboxylic acid cycle IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in tricarboxylic acid cycle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular exosome HDA PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
located_in mitochondrion HDA PubMed 
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
PubMed 
located_in 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)

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_052976.2 RefSeqGene

    Range
    5002..24404
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282403.2NP_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)
    AC005077, AC006330
    Consensus CDS
    CCDS64691.1
    UniProtKB/TrEMBL
    Q6FHZ0
    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_001282404.2NP_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)
    AC005077, AC006330
    Consensus CDS
    CCDS75622.1
    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
    A8K414, B2RE78, B4DE44, E9PDB2, O43682, P40926
    UniProtKB/TrEMBL
    A0A024R4K3, Q6FHZ0
    Related
    ENSP00000327070.5, ENST00000315758.10
    Conserved Domains (1) summary
    cd01337
    Location:26334
    MDH_glyoxysomal_mitochondrial; Glyoxysomal and mitochondrial malate dehydrogenases

RNA

  1. NR_104165.2 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)
    AC006330
    Related
    ENST00000461263.2

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    76048106..76067508
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    77335642..77355027
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)