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MDH2 (malate dehydrogenase 2)

Identity

Alias_namesmalate dehydrogenase 2
Other aliasEIEE51
M-MDH
MDH
MGC:3559
MOR1
HGNC (Hugo) MDH2
LocusID (NCBI) 4191
Atlas_Id 55198
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 76048019 and ends at 76067508 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MDH2 (7q11.23) / LOC100507412 (-)MDH2 (7q11.23) / MDH2 (7q11.23)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MDH2   6971
Cards
Entrez_Gene (NCBI)MDH2  4191  malate dehydrogenase 2
AliasesEIEE51; M-MDH; MDH; MGC:3559; 
MOR1
GeneCards (Weizmann)MDH2
Ensembl hg19 (Hinxton)ENSG00000146701 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146701 [Gene_View]  chr7:76048019-76067508 [Contig_View]  MDH2 [Vega]
ICGC DataPortalENSG00000146701
TCGA cBioPortalMDH2
AceView (NCBI)MDH2
Genatlas (Paris)MDH2
WikiGenes4191
SOURCE (Princeton)MDH2
Genetics Home Reference (NIH)MDH2
Genomic and cartography
GoldenPath hg38 (UCSC)MDH2  -     chr7:76048019-76067508 +  7q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MDH2  -     7q11.23   [Description]    (hg19-Feb_2009)
EnsemblMDH2 - 7q11.23 [CytoView hg19]  MDH2 - 7q11.23 [CytoView hg38]
Mapping of homologs : NCBIMDH2 [Mapview hg19]  MDH2 [Mapview hg38]
OMIM154100   617339   
Gene and transcription
Genbank (Entrez)AA214555 AF047470 AI793009 AK095803 AK290779
RefSeq transcript (Entrez)NM_001282403 NM_001282404 NM_005918
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MDH2
Cluster EST : UnigeneHs.520967 [ NCBI ]
CGAP (NCI)Hs.520967
Alternative Splicing GalleryENSG00000146701
Gene ExpressionMDH2 [ NCBI-GEO ]   MDH2 [ EBI - ARRAY_EXPRESS ]   MDH2 [ SEEK ]   MDH2 [ MEM ]
Gene Expression Viewer (FireBrowse)MDH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4191
GTEX Portal (Tissue expression)MDH2
Human Protein AtlasENSG00000146701-MDH2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP40926   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP40926  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP40926
Splice isoforms : SwissVarP40926
Catalytic activity : Enzyme1.1.1.37 [ Enzyme-Expasy ]   1.1.1.371.1.1.37 [ IntEnz-EBI ]   1.1.1.37 [ BRENDA ]   1.1.1.37 [ KEGG ]   
PhosPhoSitePlusP40926
Domaine pattern : Prosite (Expaxy)MDH (PS00068)   
Domains : Interpro (EBI)L-lactate/malate_DH    Lactate/malate_DH_C    Lactate/malate_DH_N    Lactate_DH/Glyco_Ohase_4_C    Malate_DH_AS    Malate_DH_type1    NAD(P)-bd_dom   
Domain families : Pfam (Sanger)Ldh_1_C (PF02866)    Ldh_1_N (PF00056)   
Domain families : Pfam (NCBI)pfam02866    pfam00056   
Conserved Domain (NCBI)MDH2
DMDM Disease mutations4191
Blocks (Seattle)MDH2
PDB (SRS)2DFD    4WLE    4WLF    4WLN    4WLO    4WLU    4WLV   
PDB (PDBSum)2DFD    4WLE    4WLF    4WLN    4WLO    4WLU    4WLV   
PDB (IMB)2DFD    4WLE    4WLF    4WLN    4WLO    4WLU    4WLV   
PDB (RSDB)2DFD    4WLE    4WLF    4WLN    4WLO    4WLU    4WLV   
Structural Biology KnowledgeBase2DFD    4WLE    4WLF    4WLN    4WLO    4WLU    4WLV   
SCOP (Structural Classification of Proteins)2DFD    4WLE    4WLF    4WLN    4WLO    4WLU    4WLV   
CATH (Classification of proteins structures)2DFD    4WLE    4WLF    4WLN    4WLO    4WLU    4WLV   
SuperfamilyP40926
Human Protein Atlas [tissue]ENSG00000146701-MDH2 [tissue]
Peptide AtlasP40926
HPRD01099
IPIIPI00291006   IPI00927864   IPI00924593   
Protein Interaction databases
DIP (DOE-UCLA)P40926
IntAct (EBI)P40926
FunCoupENSG00000146701
BioGRIDMDH2
STRING (EMBL)MDH2
ZODIACMDH2
Ontologies - Pathways
QuickGOP40926
Ontology : AmiGORNA binding  nucleus  mitochondrion  mitochondrial inner oembr`nm  mitochondrial matrix  gluconeogenesis  tricarboxylic acid cycle  oxaloacetate metabolic process  malate metabolic process  malate metabolic process  internal protein amino acid acetylation  NADH metabolic process  aerobic respiration  L-malate dehydrogenase activity  L-malate dehydrogenase activity  L-malate dehydrogenase activity  myelin sheath  protein self-association  malate dehydrogenase (NADP+) activity  extracellular exosome  
Ontology : EGO-EBIRNA binding  nucleus  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  gluconeogenesis  tricarboxylic acid cycle  oxaloacetate metabolic process  malate metabolic process  malate metabolic process  internal protein amino acid acetylation  NADH metabolic process  aerobic respiration  L-malate dehydrogenase activity  L-malate dehydrogenase activity  L-malate dehydrogenase activity  myelin sheath  protein self-association  malate dehydrogenase (NADP+) activity  extracellular exosome  
Pathways : KEGGCitrate cycle (TCA cycle)    Cysteine and methionine metabolism    Pyruvate metabolism    Glyoxylate and dicarboxylate metabolism   
NDEx NetworkMDH2
Atlas of Cancer Signalling NetworkMDH2
Wikipedia pathwaysMDH2
Orthology - Evolution
OrthoDB4191
GeneTree (enSembl)ENSG00000146701
Phylogenetic Trees/Animal Genes : TreeFamMDH2
HOVERGENP40926
HOGENOMP40926
Homologs : HomoloGeneMDH2
Homology/Alignments : Family Browser (UCSC)MDH2
Gene fusions - Rearrangements
Fusion: Tumor Portal MDH2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMDH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MDH2
dbVarMDH2
ClinVarMDH2
1000_GenomesMDH2 
Exome Variant ServerMDH2
ExAC (Exome Aggregation Consortium)ENSG00000146701
GNOMAD BrowserENSG00000146701
Genetic variants : HAPMAP4191
Genomic Variants (DGV)MDH2 [DGVbeta]
DECIPHERMDH2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMDH2 
Mutations
ICGC Data PortalMDH2 
TCGA Data PortalMDH2 
Broad Tumor PortalMDH2
OASIS PortalMDH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMDH2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMDH2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MDH2
DgiDB (Drug Gene Interaction Database)MDH2
DoCM (Curated mutations)MDH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MDH2 (select a term)
intoGenMDH2
Cancer3DMDH2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM154100    617339   
Orphanet
MedgenMDH2
Genetic Testing Registry MDH2
NextProtP40926 [Medical]
TSGene4191
GENETestsMDH2
Target ValidationMDH2
Huge Navigator MDH2 [HugePedia]
snp3D : Map Gene to Disease4191
BioCentury BCIQMDH2
ClinGenMDH2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4191
Chemical/Pharm GKB GenePA30716
Clinical trialMDH2
Miscellaneous
canSAR (ICR)MDH2 (select the gene name)
Probes
Litterature
PubMed67 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMDH2
EVEXMDH2
GoPubMedMDH2
iHOPMDH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 12:58:24 CET 2017

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