| Type | Description |
|---|---|
| Definition | malate dehydrogenase 2 |
| Date | Results | Publications |
|---|---|---|
| 2019-05-18 10:44:00 | his study suggests that MDH2 pathogenic variants may play a role in pheochromocytoma/paraganglioma (PPGL) susceptibility and that they might be responsible for less than 1% of PPGLs in patients without pathogenic variants in other major PPGL driver genes, a prevalence similar to the one recently described for other PPGL genes | 30008476 |
| 2018-12-01 11:46:00 | these data suggest that MDH2, functioning as an RNA-binding protein, is involved in the posttranscriptional downregulation of SCN1A expression under seizure condition. | 28433711 |
| 2017-05-27 10:50:00 | loss-of-function mutations in MDH2 are also associated with severe neurological clinical presentations in children | 27989324 |
| 2016-04-02 10:04:00 | Data indicate that acetyl-CoA acetyltransferase (ACAT1) and malate dehydrogenase (MDH2) are involved in various drug-resistance-forming mechanisms. | 25639359 |
| 2015-05-02 12:28:00 | Segregation of the mutation with disease and absence of MDH2 in mutated tumors revealed MDH2 as a novel pheochromocytoma/paraganglioma susceptibility gene. | 25766404 |
| Type | IDs |
|---|---|
| Synonymous | EIEE51, M-MDH, MDH, MGC:3559, MOR1 |
| Gene |
UniProtKB-ID:
MDHM_HUMAN,
A0A024R4K3_HUMAN,
B3KTM1_HUMAN,
G3XAL0_HUMAN
UniprotKB:
P40926,
A0A024R4K3,
B3KTM1,
G3XAL0
UniParc:
UPI0000EE7EEF,
UPI000198CD48,
UPI000178E03D,
UPI000013DA68
EMBL:
AF047470,
AK293460,
AC005077,
AK290779,
HM005433,
AK316587,
BC001917,
AC006330,
CH471220,
AK095803
Ensembl:
ENSG00000146701
KO:
hsa:4191
|
| Nucleutide sequences |
EMBL-CDS:
AAC03787.1,
BAF83468.1,
BAG56955.1,
BAG38175.1,
EAW71796.1,
AAH01917.1,
AEE61031.1,
EAW71798.1,
BAG53133.1,
EAW71797.1
Gene_ORFName:
hCG_1818102,
hCG_1818102
Ensembl_TRS:
ENST00000315758,
ENST00000432020,
ENST00000443006
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000408649,
ENSP00000327070,
ENSP00000416929
RefSeq:
NP_001269333.1,
NP_005909.2,
NP_001269332.1
|
| Others |
UniRef100:
UniRef100_B3KTM1,
UniRef100_G3XAL0,
UniRef100_P40926
UniRef90:
UniRef90_B3KTM1,
UniRef90_P40926
UniRef50:
UniRef50_P40926,
UniRef50_A0A0E3TIY4
UniGene:
Hs.520967
CCDS:
CCDS64691.1,
CCDS5581.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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