Name | D-2-hydroxyglutarate dehydrogenase |
Description | 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] |
Synonyms | D2HGD |
Proteins | D2HDH_HUMAN |
NCBI Gene ID | 728294 |
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Co-expressed Genes |
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Expression in Tissues and Cell Lines |
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D2HGDH has 3,830 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 81 datasets.
Click the + buttons to view associations for D2HGDH from the datasets below.
If available, associations are ranked by standardized value
Dataset | Summary | |
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Achilles Cell Line Gene Essentiality Profiles | cell lines with fitness changed by D2HGDH gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset. | |
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of D2HGDH gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of D2HGDH gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of D2HGDH gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of D2HGDH gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of D2HGDH gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of D2HGDH gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of D2HGDH gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of D2HGDH gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
CCLE Cell Line Proteomics | Cell lines associated with D2HGDH protein from the CCLE Cell Line Proteomics dataset. | |
ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of D2HGDH gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
ChEA Transcription Factor Targets | transcription factors binding the promoter of D2HGDH gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of D2HGDH gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
ClinVar Gene-Phenotype Associations | phenotypes associated with D2HGDH gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing D2HGDH protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with D2HGDH protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
COSMIC Cell Line Gene Mutation Profiles | cell lines with D2HGDH gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
CTD Gene-Chemical Interactions | chemicals interacting with D2HGDH gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
CTD Gene-Disease Associations | diseases associated with D2HGDH gene/protein from the curated CTD Gene-Disease Associations dataset. | |
DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of D2HGDH protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
DepMap CRISPR Gene Dependency | cell lines with fitness changed by D2HGDH gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving D2HGDH gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with D2HGDH gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
DisGeNET Gene-Disease Associations | diseases associated with D2HGDH gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
DisGeNET Gene-Phenotype Associations | phenotypes associated with D2HGDH gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at D2HGDH gene from the ENCODE Histone Modification Site Profiles dataset. | |
ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of D2HGDH gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
ENCODE Transcription Factor Targets | transcription factors binding the promoter of D2HGDH gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing D2HGDH from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
GeneRIF Biological Term Annotations | biological terms co-occuring with D2HGDH gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing D2HGDH from the GeneSigDB Published Gene Signatures dataset. | |
GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of D2HGDH gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of D2HGDH gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of D2HGDH gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of D2HGDH gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of D2HGDH gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of D2HGDH gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
GO Biological Process Annotations 2015 | biological processes involving D2HGDH gene from the curated GO Biological Process Annotations 2015 dataset. | |
GO Biological Process Annotations 2023 | biological processes involving D2HGDH gene from the curated GO Biological Process Annotations 2023 dataset. | |
GO Cellular Component Annotations 2015 | cellular components containing D2HGDH protein from the curated GO Cellular Component Annotations 2015 dataset. | |
GO Cellular Component Annotations 2023 | cellular components containing D2HGDH protein from the curated GO Cellular Component Annotations 2023 dataset. | |
GO Molecular Function Annotations 2015 | molecular functions performed by D2HGDH gene from the curated GO Molecular Function Annotations 2015 dataset. | |
GO Molecular Function Annotations 2023 | molecular functions performed by D2HGDH gene from the curated GO Molecular Function Annotations 2023 dataset. | |
GTEx Tissue Gene Expression Profiles | tissues with high or low expression of D2HGDH gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of D2HGDH gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of D2HGDH gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of D2HGDH gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of D2HGDH gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
HMDB Metabolites of Enzymes | interacting metabolites for D2HGDH protein from the curated HMDB Metabolites of Enzymes dataset. | |
HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of D2HGDH gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
HPA Tissue Gene Expression Profiles | tissues with high or low expression of D2HGDH gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
HPA Tissue Protein Expression Profiles | tissues with high or low expression of D2HGDH protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of D2HGDH gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
HPM Cell Type and Tissue Protein Expression Profiles | cell types and tissues with high or low expression of D2HGDH protein relative to other cell types and tissues from the HPM Cell Type and Tissue Protein Expression Profiles dataset. | |
HPO Gene-Disease Associations | phenotypes associated with D2HGDH gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
HuGE Navigator Gene-Phenotype Associations | phenotypes associated with D2HGDH gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
InterPro Predicted Protein Domain Annotations | protein domains predicted for D2HGDH protein from the InterPro Predicted Protein Domain Annotations dataset. | |
JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of D2HGDH gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of D2HGDH gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of D2HGDH gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with D2HGDH gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of D2HGDH gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain D2HGDH protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
MiRTarBase microRNA Targets | microRNAs targeting D2HGDH gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of D2HGDH gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of D2HGDH gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
OMIM Gene-Disease Associations | phenotypes associated with D2HGDH gene from the curated OMIM Gene-Disease Associations dataset. | |
Pathway Commons Protein-Protein Interactions | interacting proteins for D2HGDH from the Pathway Commons Protein-Protein Interactions dataset. | |
PFOCR Pathway Figure Associations 2023 | pathways involving D2HGDH protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
PFOCR Pathway Figure Associations 2024 | pathways involving D2HGDH protein from the Wikipathways PFOCR 2024 dataset. | |
Reactome Pathways | pathways involving D2HGDH protein from the Reactome Pathways dataset. | |
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of D2HGDH gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of D2HGDH gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at D2HGDH gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
Sanger Dependency Map Cancer Cell Line Proteomics | cell lines associated with D2HGDH protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset. | |
TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of D2HGDH gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of D2HGDH gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of D2HGDH protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of D2HGDH protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with D2HGDH protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
WikiPathways Pathways 2024 | pathways involving D2HGDH protein from the WikiPathways Pathways 2024 dataset. | |