D2HGDH (D-2-hydroxyglutarate dehydrogenase)

2011-07-01  

Identity

HGNC
D2HGDH
LOCATION
2q37.3
LOCUSID
728294
ALIAS
D2HGD
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
N/A

References

Pubmed IDYearTitleCitations
342964232021D-2-hydroxyglutarate dehydrogenase in breast carcinoma as a potent prognostic marker associated with proliferation.5
342964232021D-2-hydroxyglutarate dehydrogenase in breast carcinoma as a potent prognostic marker associated with proliferation.5
321016992020MYC Regulation of D2HGDH and L2HGDH Influences the Epigenome and Epitranscriptome.12
323863202020Adult diffuse glioma GWAS by molecular subtype identifies variants in D2HGDH and FAM20C.14
321016992020MYC Regulation of D2HGDH and L2HGDH Influences the Epigenome and Epitranscriptome.12
323863202020Adult diffuse glioma GWAS by molecular subtype identifies variants in D2HGDH and FAM20C.14
309087632019D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.6
313490602019Biochemical characterization of human D-2-hydroxyglutarate dehydrogenase and two disease related variants reveals the molecular cause of D-2-hydroxyglutaric aciduria.8
309087632019D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.6
313490602019Biochemical characterization of human D-2-hydroxyglutarate dehydrogenase and two disease related variants reveals the molecular cause of D-2-hydroxyglutaric aciduria.8
273227362016Recurrent cis-SAGe chimeric RNA, D2HGDH-GAL3ST2, in prostate cancer.28
273227362016Recurrent cis-SAGe chimeric RNA, D2HGDH-GAL3ST2, in prostate cancer.28
261784712015D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2.51
261784712015D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2.51
207270732011Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations.7

Citation

Dessen P

D2HGDH (D-2-hydroxyglutarate dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2011-07-01

Online version: http://atlasgeneticsoncology.org/gene/52271/js/lib/gene-fusions/?id=52271