Tbio | D-2-hydroxyglutarate dehydrogenase, mitochondrial |
Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate.
This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]
This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]
Comments
Disease | Target Count |
---|---|
Amino Acid Metabolism, Inborn Errors | 13 |
Combined D-2- and L-2-hydroxyglutaric aciduria | 4 |
Disease | Target Count | P-value |
---|---|---|
ovarian cancer | 8492 | 4.19305006602961E-6 |
Breast cancer | 3099 | 7.69396541822952E-5 |
medulloblastoma, large-cell | 6234 | 4.18938161115833E-4 |
osteosarcoma | 7933 | 0.00150878391732487 |
intraductal papillary-mucinous adenoma (IPMA) | 2956 | 0.0182339969109046 |
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
2-hydroxyglutaric aciduria | 5 | 0.0 | 5.0 |
Disease | Target Count |
---|---|
D-2-hydroxyglutaric aciduria | 9 |
D-2-hydroxyglutaric aciduria 1 | 1 |
Disease | log2 FC | p |
---|---|---|
osteosarcoma | -1.097 | 0.002 |
medulloblastoma, large-cell | -1.100 | 0.000 |
intraductal papillary-mucinous adenoma (... | 1.100 | 0.018 |
ovarian cancer | -1.500 | 0.000 |
Breast cancer | -1.100 | 0.000 |
Species | Source |
---|---|
Chimp | OMA EggNOG |
Macaque | OMA EggNOG Inparanoid |
Mouse | OMA EggNOG Inparanoid |
Rat | OMA EggNOG Inparanoid |
Dog | OMA EggNOG Inparanoid |
Horse | OMA EggNOG Inparanoid |
Cow | OMA EggNOG Inparanoid |
Opossum | OMA EggNOG Inparanoid |
Anole lizard | OMA EggNOG Inparanoid |
Xenopus | OMA EggNOG Inparanoid |
Zebrafish | OMA EggNOG Inparanoid |
S.cerevisiae | OMA EggNOG |
S.cerevisiae | OMA Inparanoid |
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). |
MLPRRPLAWPAWLLRGAPGAAGSWGRPVGPLARRGCCSAPGTPEVPLTRERYPVRRLPFSTVSKQDLAAF 1 - 70 ERIVPGGVVTDPEALQAPNVDWLRTLRGCSKVLLRPRTSEEVSHILRHCHERNLAVNPQGGNTGMVGGSV 71 - 140 PVFDEIILSTARMNRVLSFHSVSGILVCQAGCVLEELSRYVEERDFIMPLDLGAKGSCHIGGNVATNAGG 141 - 210 LRFLRYGSLHGTVLGLEVVLADGTVLDCLTSLRKDNTGYDLKQLFIGSEGTLGIITTVSILCPPKPRAVN 211 - 280 VAFLGCPGFAEVLQTFSTCKGMLGEILSAFEFMDAVCMQLVGRHLHLASPVQESPFYVLIETSGSNAGHD 281 - 350 AEKLGHFLEHALGSGLVTDGTMATDQRKVKMLWALRERITEALSRDGYVYKYDLSLPVERLYDIVTDLRA 351 - 420 RLGPHAKHVVGYGHLGDGNLHLNVTAEAFSPSLLAALEPHVYEWTAGQQGSVSAEHGVGFRKRDVLGYSK 421 - 490 PPGALQLMQQLKALLDPKGILNPYKTLPSQA 491 - 521 //
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. |
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