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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
Summary
- Gene Symbol
-
- IDH3B
- Aliases
-
- RP46
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Disease variant
- Mitochondrion
- Proteomics identification
- Reference proteome
- Retinitis pigmentosa
- Transit peptide
- Tricarboxylic acid cycle
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A087X2E5 |
|
| O43837 |
|
| A0A087WZN1 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| isocitrate metabolic process | ||
| tricarboxylic acid cycle |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleus | ||
| mitochondrial matrix |
|
|
| mitochondrion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| electron transfer activity |
|
|
| magnesium ion binding | ||
| isocitrate dehydrogenase (NAD+) activity |
|
|
| NAD binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:539 | ophthalmoplegia | |
| DOID:0050572 | cone-rod dystrophy | |
| DOID:0050709 | early infantile epileptic encephalopathy | |
| DOID:0050782 | Zollinger-Ellison syndrome | |
| DOID:0110409 | retinitis pigmentosa 46 | |
| DOID:10003 | sensorineural hearing loss | |
| DOID:10124 | corneal disease | |
| DOID:10126 | keratoconus | |
| DOID:10141 | obsolete asthenopia | |
| DOID:10534 | stomach cancer |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000035 | Abnormal testis morphology |
| HP:0000135 | Hypogonadism |
| HP:0000405 | Conductive hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000501 | Glaucoma |
| HP:0000505 | Visual impairment |
| HP:0000510 | Rod-cone dystrophy |
| HP:0000512 | Abnormal electroretinogram |
| HP:0000543 | Optic disc pallor |
| Disease ID | Disease Name |
|---|---|
| OMIM:612572 |
|
| ORPHA:791 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 181528 | WB:WBGene00007993 | ||
| 42586 | FB:FBgn0038922 | ||
| 102357101 | LATCH11697 | ||
| 415247 | ZFIN:ZDB-GENE-040625-174 | DANRE20864 | |
| 103022909 | ASTMX10351 | ||
| 108279145 | ICTPU11011 | ||
| 113588028 | ELEEL39844 | ||
| 115208270 | SALTR38737 | ||
| 115557364 | GADMO09192 | ||
| 100711999 | ORENI58197 |
