D2HGDH (D-2-hydroxyglutarate dehydrogenase)

2011-07-01  

Identity

HGNC
LOCATION
2q37.3
LOCUSID
ALIAS
D2HGD
FUSION GENES

Other Information

Locus ID:

NCBI: 728294
MIM: 609186
HGNC: 28358
Ensembl: ENSG00000180902

Variants:

dbSNP: 728294
ClinVar: 728294
TCGA: ENSG00000180902
COSMIC: D2HGDH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000180902ENST00000321264Q8N465
ENSG00000180902ENST00000400769G5E9E8
ENSG00000180902ENST00000403782B5MCV2
ENSG00000180902ENST00000417686H7C021
ENSG00000180902ENST00000432449H7C0N1
ENSG00000180902ENST00000436747F8WCF9
ENSG00000180902ENST00000437164H7C3L2
ENSG00000180902ENST00000454048H7C290

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Pyruvate metabolism and Citric Acid (TCA) cycleREACTOMER-HSA-71406
Interconversion of 2-oxoglutarate and 2-hydroxyglutarateREACTOMER-HSA-880009

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
216254412011Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma.24
273227362016Recurrent cis-SAGe chimeric RNA, D2HGDH-GAL3ST2, in prostate cancer.9
207270732011Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations.4
207270732011Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations.4
160379742005Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.0
192835092009Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients.0
261784712015D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2.0
309087632019D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.0
313490602019Biochemical characterization of human D-2-hydroxyglutarate dehydrogenase and two disease related variants reveals the molecular cause of D-2-hydroxyglutaric aciduria.0

Citation

Dessen P

D2HGDH (D-2-hydroxyglutarate dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2011-07-01

Online version: http://atlasgeneticsoncology.org/gene/52271/d2hgdh