Type | Description |
---|---|
Definition | D-2-hydroxyglutarate dehydrogenase |
Date | Results | Publications |
---|---|---|
2021-03-20 13:27:00 | Adult diffuse glioma GWAS by molecular subtype identifies variants in D2HGDH and FAM20C. | 32386320 |
2020-03-21 12:23:00 | Study presents the functional characterization of 31 D2HGDH missense variants, and the identification of 10 novel variants in a large cohort of patients with D-2-hydroxyglutaric aciduria Type I. The functional tests proved effective in classifying missense variants associated with severely impaired D-2-HGDH activity. | 30908763 |
2020-01-18 12:05:00 | hD2HGDH directly reduces recombinant human ETF, thus establishing a metabolic link between the oxidation of D-2-hydroxyglutarate and the mitochondrial electron transport chain. | 31349060 |
2017-07-29 11:51:00 | D2HGDH-GAL3ST2 is more frequently seen in prostate cancer samples, and seems to be enriched in African Americans. | 27322736 |
2016-04-16 10:40:00 | D2HGDH elevates alpha-KG levels via IDH2 expression modulation, influencing histone and DNA methylation, and HIF1alpha hydroxylation. D2HGDH mutants found in diffuse large B-cell lymphoma are enzymatically inert. | 26178471 |
Type | IDs |
---|---|
Synonymous | D2HGD |
Gene |
UniProtKB-ID:
D2HDH_HUMAN,
B5MCV2_HUMAN,
B4E3K7_HUMAN,
B3KSR6_HUMAN
UniprotKB:
Q8N465,
B5MCV2,
B4E3K7,
B3KSR6
UniParc:
UPI00017A8739,
UPI00003E5DD1,
UPI0000456F51,
UPI00017A876E,
UPI000173A5E2,
UPI00003782F7
EMBL:
AK304764,
AK094149,
AC114730,
AK304773,
BC036604,
BC071598
Ensembl:
ENSG00000180902
KO:
hsa:728294
|
Nucleutide sequences |
EMBL-CDS:
AAH36604.2,
AAH71598.1,
AAX82020.1,
BAG65528.1,
BAG65519.1,
BAG52828.1
Ensembl_TRS:
ENST00000321264,
ENST00000403782
|
Protein sequencees |
Ensembl_PRO:
ENSP00000315351,
ENSP00000384723
RefSeq:
XP_011510053.1,
XP_011510038.1,
XP_011510037.1,
XP_011510058.1,
XP_011510054.1,
XP_011510046.1,
XP_011510052.1,
NP_001339753.1,
XP_024308870.1,
XP_011510059.1,
XP_011510061.1,
XP_011510055.1,
XP_024308871.1,
XP_011510045.1,
XP_011510039.1,
NP_001274178.1,
XP_011510042.1,
XP_016860319.1,
XP_011510060.1,
XP_011510049.1,
XP_011510051.1,
XP_016860316.1,
XP_011510040.1,
XP_011510062.1,
XP_016860321.1,
XP_011510047.1,
XP_011510043.1,
XP_011510036.1,
XP_016860318.1,
XP_016860317.1,
XP_011510048.1,
NP_689996.4,
XP_011510041.1
|
Others |
UniRef100:
UniRef100_B3KSR6,
UniRef100_B4E3K7,
UniRef100_Q8N465
UniRef90:
UniRef90_Q8N465,
UniRef90_G7N9E8,
UniRef90_Q8N465-3
UniRef50:
UniRef50_A0A286ZPL6,
UniRef50_Q8N465,
UniRef50_Q8N465-3
UniGene:
Hs.516813
CCDS:
CCDS33426.1
|
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Refseq |
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