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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
L-2-hydroxyglutarate dehydrogenase
Summary
- Gene Symbol
-
- L2HGDH
- Aliases
-
- 2-hydroxyglutarate dehydrogenase
- FLJ12618
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Acetylation
- Alternative splicing
- Disease variant
- FAD
- Mitochondrion
- Oxidoreductase
- Reference proteome
- Transit peptide
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9H9P8 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| 2-oxoglutarate metabolic process |
|
|
| small molecule metabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrial inner membrane | ||
| membrane | ||
| mitochondrion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| 2-hydroxyglutarate dehydrogenase activity |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:1059 | intellectual disability | |
| DOID:11771 | spontaneous ocular nystagmus | |
| DOID:11832 | visual epilepsy | |
| DOID:1289 | neurodegenerative disease | |
| DOID:13174 | dissociated nystagmus | |
| DOID:1319 | brain cancer | |
| DOID:1826 | epilepsy | |
| DOID:2476 | hereditary spastic paraplegia | |
| DOID:3068 | glioblastoma | |
| DOID:3070 | high grade glioma |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002383 | Infectious encephalitis |
| HP:0003593 | Infantile onset |
| HP:0004375 | Neoplasm of the nervous system |
| HP:0006887 | Intellectual disability, progressive |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0007258 | Severe demyelination of the white matter |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0007371 | Corpus callosum atrophy |
| HP:0010864 | Intellectual disability, severe |
| Disease ID | Disease Name |
|---|---|
| ORPHA:79314 |
|
| OMIM:236792 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 107602969 | SINGR50845 | ||
| 116822134 | CHEAB20525 | ||
| 105309524 | PTEVA16070 | ||
| 115035526 | ECHNA39387 | ||
| 115406269 | SALFA11730 | ||
| 105825869 | PROCO08563 | ||
| 103731511 | NANGA06715 | ||
| 116446155 | CORMO23557 | ||
| 115607514 | STRHB09353 |
