Property Summary

NCBI Gene PubMed Count 19
PubMed Score 8.53
PubTator Score 17.03

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma -1.097 1.5e-03
medulloblastoma, large-cell -1.100 4.2e-04
intraductal papillary-mucinous adenoma (... 1.100 1.8e-02
ovarian cancer -1.500 4.2e-06
Breast cancer -1.100 7.7e-05

Gene RIF (6)

PMID Text
26178471 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.
21625441 D2HGDH mutation is not associated with glioblastoma.
20727073 We did not find evidence for mutations in the genes D2HGDH and L2HGDH as an alternative mechanism for raised 2-hydroxyglutarate levels in brain tumours
20727073 Observational study of gene-disease association. (HuGE Navigator)
19283509 This enzyme assay will have utility in differentiating patients with 2-hydroxyglutaric aciduria and in assessing the residual activities linked to pathogenic mutations in the D2HGDH gene
16037974 Two novel pathogenic mutations in D-2-hydroxyglutarate dehydrogenase gene in patient with a mild presentation and asymptomatic siblings with D-2-hydroxyglutaric aciduria with a splice error (IVS4-2A-->G) and a missense mutation (c.1315A-->G;p.Asn439Asp).

AA Sequence

MLPRRPLAWPAWLLRGAPGAAGSWGRPVGPLARRGCCSAPGTPEVPLTRERYPVRRLPFSTVSKQDLAAF      1 - 70
ERIVPGGVVTDPEALQAPNVDWLRTLRGCSKVLLRPRTSEEVSHILRHCHERNLAVNPQGGNTGMVGGSV     71 - 140
PVFDEIILSTARMNRVLSFHSVSGILVCQAGCVLEELSRYVEERDFIMPLDLGAKGSCHIGGNVATNAGG    141 - 210
LRFLRYGSLHGTVLGLEVVLADGTVLDCLTSLRKDNTGYDLKQLFIGSEGTLGIITTVSILCPPKPRAVN    211 - 280
VAFLGCPGFAEVLQTFSTCKGMLGEILSAFEFMDAVCMQLVGRHLHLASPVQESPFYVLIETSGSNAGHD    281 - 350
AEKLGHFLEHALGSGLVTDGTMATDQRKVKMLWALRERITEALSRDGYVYKYDLSLPVERLYDIVTDLRA    351 - 420
RLGPHAKHVVGYGHLGDGNLHLNVTAEAFSPSLLAALEPHVYEWTAGQQGSVSAEHGVGFRKRDVLGYSK    421 - 490
PPGALQLMQQLKALLDPKGILNPYKTLPSQA                                           491 - 521
//

Text Mined References (18)

PMID Year Title
26178471 2015 D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2.
21625441 2011 Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma.
20727073 2011 Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations.
19283509 2009 Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16442322 2006 D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16081310 Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.
16037974 2005 Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15609246 2005 Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15070399 2004 Identification of a dehydrogenase acting on D-2-hydroxyglutarate.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11181995 2001 The sequence of the human genome.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
7609436 1993 D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?