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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000256 | Macrocephaly |
| HP:0000365 | Hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000708 | Atypical behavior |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| 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 |
