Identity
HGNC
LOCATION
7q11.23
LOCUSID
ALIAS
DEE51,EIEE51,M-MDH,MDH,MGC:3559,MOR1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4191
MIM: 154100
HGNC: 6971
Ensembl: ENSG00000146701
Variants:
dbSNP: 4191
ClinVar: 4191
TCGA: ENSG00000146701
COSMIC: MDH2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34718610 | 2022 | Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia. | 4 |
| 34766628 | 2022 | Bi-allelic variants in MDH2: Expanding the clinical phenotype. | 3 |
| 36139014 | 2022 | Structural Comparison of hMDH2 Complexed with Natural Substrates and Cofactors: The Importance of Phosphate Binding for Active Conformation and Catalysis. | 0 |
| 36159820 | 2022 | Integrated genomic, transcriptomic and metabolomic analysis reveals MDH2 mutation-induced metabolic disorder in recurrent focal segmental glomerulosclerosis. | 0 |
| 34718610 | 2022 | Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia. | 4 |
| 34766628 | 2022 | Bi-allelic variants in MDH2: Expanding the clinical phenotype. | 3 |
| 36139014 | 2022 | Structural Comparison of hMDH2 Complexed with Natural Substrates and Cofactors: The Importance of Phosphate Binding for Active Conformation and Catalysis. | 0 |
| 36159820 | 2022 | Integrated genomic, transcriptomic and metabolomic analysis reveals MDH2 mutation-induced metabolic disorder in recurrent focal segmental glomerulosclerosis. | 0 |
| 33565687 | 2021 | Urinary malate dehydrogenase 2 is a new biomarker for early detection of non-small-cell lung cancer. | 13 |
| 33565687 | 2021 | Urinary malate dehydrogenase 2 is a new biomarker for early detection of non-small-cell lung cancer. | 13 |
| 30008476 | 2018 | Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients. | 25 |
| 30008476 | 2018 | Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients. | 25 |
| 27989324 | 2017 | Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. | 35 |
| 28433711 | 2017 | MDH2 is an RNA binding protein involved in downregulation of sodium channel Scn1a expression under seizure condition. | 8 |
| 27989324 | 2017 | Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. | 35 |
Citation
Dessen P
MDH2 (malate dehydrogenase 2)
Atlas Genet Cytogenet Oncol Haematol. 2015-05-01
Online version: http://atlasgeneticsoncology.org/gene/55198/mdh2-(malate-dehydrogenase-2)
