Human Gene MDH2 (ENST00000315758.10_4) from GENCODE V47lift37
  Description: malate dehydrogenase 2, transcript variant 1 (from RefSeq NM_005918.4)
Gencode Transcript: ENST00000315758.10_4
Gencode Gene: ENSG00000146701.12_7
Transcript (Including UTRs)
   Position: hg19 chr7:75,677,424-75,696,826 Size: 19,403 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr7:75,677,479-75,695,728 Size: 18,250 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:75,677,424-75,696,826)mRNA (may differ from genome)Protein (338 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MDHM_HUMAN
DESCRIPTION: RecName: Full=Malate dehydrogenase, mitochondrial; EC=1.1.1.37; Flags: Precursor;
CATALYTIC ACTIVITY: (S)-malate + NAD(+) = oxaloacetate + NADH.
ENZYME REGULATION: Enzyme activity is enhanced by acetylation.
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Mitochondrion matrix.
PTM: Acetylation is enhanced by up to 67% after treatment either with trichostin A (TSA) or with nicotinamide (NAM) with the appearance of tri-and tetraacetylations. Glucose also increases acetylation by about 60% (By similarity).
SIMILARITY: Belongs to the LDH/MDH superfamily. MDH type 1 family.
WEB RESOURCE: Name=Wikipedia; Note=Malate dehydrogenase entry; URL="http://en.wikipedia.org/wiki/Malate_dehydrogenase";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MDH2
Diseases sorted by gene-association score: epileptic encephalopathy, early infantile, 51* (1230), hereditary paraganglioma-pheochromocytoma syndromes* (117), gastroenteritis (17), l-2-hydroxyglutaric aciduria (14), x-linked sideroblastic anemia with ataxia (12), 2-hydroxyglutaric aciduria (9), sleeping sickness (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 174.12 RPKM in Muscle - Skeletal
Total median expression: 2724.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.9055-0.107 Picture PostScript Text
3' UTR -356.501098-0.325 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001557 - L-lactate/malate_DH
IPR022383 - Lactate/malate_DH_C
IPR001236 - Lactate/malate_DH_N
IPR015955 - Lactate_DH/Glyco_Ohase_4_C
IPR001252 - Malate_DH_AS
IPR010097 - Malate_DH_type1
IPR016040 - NAD(P)-bd_dom

Pfam Domains:
PF00056 - lactate/malate dehydrogenase, NAD binding domain
PF02866 - lactate/malate dehydrogenase, alpha/beta C-terminal domain

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains
56327 - LDH C-terminal domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DFD - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P40926
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003824 catalytic activity
GO:0016491 oxidoreductase activity
GO:0016615 malate dehydrogenase activity
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
GO:0030060 L-malate dehydrogenase activity
GO:0043621 protein self-association
GO:0046554 malate dehydrogenase (NADP+) activity

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006094 gluconeogenesis
GO:0006099 tricarboxylic acid cycle
GO:0006107 oxaloacetate metabolic process
GO:0006108 malate metabolic process
GO:0006475 internal protein amino acid acetylation
GO:0006734 NADH metabolic process
GO:0009060 aerobic respiration
GO:0019752 carboxylic acid metabolic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0016020 membrane
GO:0043209 myelin sheath
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AF047470 - Homo sapiens malate dehydrogenase precursor (MDH) mRNA, nuclear gene encoding mitochondrial protein, complete cds.
HM005433 - Homo sapiens clone HTL-T-120 testicular tissue protein Li 120 mRNA, complete cds.
AK290779 - Homo sapiens cDNA FLJ75674 complete cds, highly similar to Homo sapiens malate dehydrogenase 2, NAD (mitochondrial) (MDH2), mRNA.
AK095803 - Homo sapiens cDNA FLJ38484 fis, clone FEBRA2023227, highly similar to MALATE DEHYDROGENASE, MITOCHONDRIAL PRECURSOR (EC 1.1.1.37).
BC001917 - Homo sapiens malate dehydrogenase 2, NAD (mitochondrial), mRNA (cDNA clone MGC:3559 IMAGE:2823443), complete cds.
AK316587 - Homo sapiens cDNA, FLJ95392, highly similar to Homo sapiens malate dehydrogenase 2, NAD (mitochondrial) (MDH2), mRNA.
DQ893080 - Synthetic construct clone IMAGE:100005710; FLH193462.01X; RZPDo839G0678D malate dehydrogenase 2, NAD (mitochondrial) (MDH2) gene, encodes complete protein.
DQ896341 - Synthetic construct Homo sapiens clone IMAGE:100010801; FLH193458.01L; RZPDo839G0668D malate dehydrogenase 2, NAD (mitochondrial) (MDH2) gene, encodes complete protein.
KJ897180 - Synthetic construct Homo sapiens clone ccsbBroadEn_06574 MDH2 gene, encodes complete protein.
CR536548 - Homo sapiens full open reading frame cDNA clone RZPDo834E0920D for gene MDH2, malate dehydrogenase 2, NAD (mitochondrial); complete cds, incl. stopcodon.
AK293460 - Homo sapiens cDNA FLJ52880 complete cds, highly similar to Malate dehydrogenase, mitochondrial precursor (EC 1.1.1.37).
JD021505 - Sequence 2529 from Patent EP1572962.
JD035704 - Sequence 16728 from Patent EP1572962.
DQ402957 - Homo sapiens mitochondrial malate dehydrogenase 2, NAD (MDH2) mRNA, partial cds; nuclear gene for mitochondrial product.
DQ576321 - Homo sapiens piRNA piR-44433, complete sequence.
JD026703 - Sequence 7727 from Patent EP1572962.
JD034315 - Sequence 15339 from Patent EP1572962.
JD025363 - Sequence 6387 from Patent EP1572962.
JD028448 - Sequence 9472 from Patent EP1572962.
JD296415 - Sequence 277439 from Patent EP1572962.
JD378299 - Sequence 359323 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
MALATE-ASPARTATE-SHUTTLE-PWY - malate-aspartate shuttle
PWY66-398 - TCA cycle
PWY66-399 - gluconeogenesis
PWY66-407 - superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle

Reactome (by CSHL, EBI, and GO)

Protein P40926 (Reactome details) participates in the following event(s):

R-HSA-70979 (S)-Malate + NAD+ <=> Oxaloacetate + NADH + H+
R-HSA-71783 Oxaloacetate + NADH + H+ <=> (S)-Malate + NAD+
R-HSA-71403 Citric acid cycle (TCA cycle)
R-HSA-70263 Gluconeogenesis
R-HSA-71406 Pyruvate metabolism and Citric Acid (TCA) cycle
R-HSA-70326 Glucose metabolism
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K414, B2RE78, B4DE44, E9PDB2, ENST00000315758.1, ENST00000315758.2, ENST00000315758.3, ENST00000315758.4, ENST00000315758.5, ENST00000315758.6, ENST00000315758.7, ENST00000315758.8, ENST00000315758.9, MDHM_HUMAN, NM_005918, O43682, P40926, uc317pwk.1, uc317pwk.2
UCSC ID: ENST00000315758.10_4
RefSeq Accession: NM_005918.4
Protein: P40926 (aka MDHM_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.