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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:0001252 | Hypotonia |
| HP:0001272 | Cerebellar atrophy |
| HP:0001285 | Spastic tetraparesis |
| HP:0002062 | Abnormal pyramidal tract morphology |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0002171 | Gliosis |
| HP:0002283 | Global brain atrophy |
| HP:0002352 | Leukoencephalopathy |
| HP:0002376 | Developmental regression |
| HP:0002381 | Aphasia |
| 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 |
|---|---|---|---|
| 100145085 | Xenbase:XB-GENE-5764342 | ||
| 101935892 | CHRPI07353 | ||
| 109320894 | CROPO08840 | ||
| 100540849 | MELGA11263 | ||
| 103125023 | ERIEU13260 | ||
| 100410851 | CALJA02321 | ||
| 105586729 | CERAT19521 | ||
| 705721 | MACMU40732 | ||
| 105481842 | MACNE22831 | ||
| 101004693 | PAPAN38053 |
