Gene Gene information from NCBI Gene database.
Entrez ID 4191
Gene name Malate dehydrogenase 2
Gene symbol MDH2
Synonyms (NCBI Gene)
DEE51EIEE51M-MDHMDHMGC:3559MOR1
Chromosome 7
Chromosome location 7q11.23
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-
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs373968974 G>A Conflicting-interpretations-of-pathogenicity Missense variant, genic downstream transcript variant, coding sequence variant
rs375002796 C>G,T Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
rs782308462 G>A Pathogenic Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs1057519566 C>T Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
rs1057519567 G>- Pathogenic Genic downstream transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
54
miRTarBase ID miRNA Experiments Reference
MIRT046682 hsa-miR-222-3p CLASH 23622248
MIRT046217 hsa-miR-27b-3p CLASH 23622248
MIRT044824 hsa-miR-320a CLASH 23622248
MIRT042426 hsa-miR-425-3p CLASH 23622248
MIRT041647 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003824 Function Catalytic activity IEA
GO:0005634 Component Nucleus HDA 21630459
GO:0005737 Component Cytoplasm IBA
GO:0005739 Component Mitochondrion HDA 20833797
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
154100 6971 ENSG00000146701
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P40926
Protein name Malate dehydrogenase, mitochondrial (EC 1.1.1.37)
PDB 2DFD , 4WLE , 4WLF , 4WLN , 4WLO , 4WLU , 4WLV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00056 Ldh_1_N 25 168 lactate/malate dehydrogenase, NAD binding domain Family
PF02866 Ldh_1_C 170 334 lactate/malate dehydrogenase, alpha/beta C-terminal domain Domain
Sequence
Sequence length 338
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Citrate cycle (TCA cycle)
Cysteine and methionine metabolism
Pyruvate metabolism
Glyoxylate and dicarboxylate metabolism
Metabolic pathways
Carbon metabolism
  Gluconeogenesis
Citric acid cycle (TCA cycle)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
34
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy, 51 Likely pathogenic; Pathogenic rs782759642, rs782048786, rs1057519566, rs1057519567, rs782308462 RCV005032132
RCV002468746
RCV000417059
RCV000417042
RCV000417051
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile encephalopathy Pathogenic rs1057519566, rs1057519567 RCV000496994
RCV000509017
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, OVARIAN EPITHELIAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 25766404, 26839173, 27989324, 28332880, 30008476
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma HPO_DG
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 28332880
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26059363 Associate
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 12376462
★☆☆☆☆
Found in Text Mining only
Aniridia Aniridia HPO_DG
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 27989324 Associate
★☆☆☆☆
Found in Text Mining only
Bronchioloalveolar Adenocarcinoma Lung adenocarcinoma BEFREE 22343475
★☆☆☆☆
Found in Text Mining only
Capillary hemangioma of retina Capillary Hemangioma Of Retina HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma CTD_human_DG 12376462
★★☆☆☆
Found in Text Mining + Unknown/Other Associations