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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:4467 | clear cell renal cell carcinoma | |
| DOID:0014667 | disease of metabolism | |
| DOID:0050387 | nonpapillary renal cell carcinoma | |
| DOID:0050573 | 2-hydroxyglutaric aciduria | |
| DOID:0050574 | L-2-hydroxyglutaric aciduria | |
| DOID:0050575 | D-2-hydroxyglutaric aciduria | |
| DOID:0050753 | cerebellar ataxia | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:0111351 | D-2-hydroxyglutaric aciduria 1 | |
| DOID:10003 | sensorineural hearing loss |
- 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 |
|---|---|---|---|
| 178733 | WB:WBGene00021564 | ||
| 35156 | FB:FBgn0032729 | ||
| 102364974 | LATCH13617 | ||
| 566872 | ZFIN:ZDB-GENE-090319-6 | DANRE06061 | |
| 113577730 | ELEEL21741 | ||
| 115172980 | SALTR72491 | ||
| 101160274 | ORYLA10086 | ||
| 100693423 | ORENI32742 | ||
| 115565808 | SPAAU04897 | ||
| 108698751 | Xenbase:XB-GENE-6487957 |
