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728294 D2HGDH

728294

D2HGDH

D-2-hydroxyglutarate dehydrogenase

protein-coding

Homo sapiens

基因描述

Type Description
Definition D-2-hydroxyglutarate dehydrogenase

研究结论

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

名称对应

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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