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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:10584 | retinitis pigmentosa | |
| DOID:1059 | intellectual disability | |
| DOID:11105 | fundus albipunctatus | |
| DOID:11771 | spontaneous ocular nystagmus | |
| DOID:13174 | dissociated nystagmus | |
| DOID:1432 | blindness | |
| DOID:1686 | glaucoma | |
| DOID:1924 | hypogonadism | |
| DOID:2018 | hyperinsulinism | |
| DOID:2280 | hidradenitis suppurativa |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000546 | Retinal degeneration |
| HP:0000563 | Keratoconus |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000602 | Ophthalmoplegia |
| HP:0000613 | Photophobia |
| HP:0000618 | Blindness |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude |
| HP:0000662 | Nyctalopia |
| 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 |
|---|---|---|---|
| 123799020 | URSAM07919 | ||
| 101675188 | MUSPF04691 | ||
| 101099035 | FELCA06396 | ||
| 122215741 | PANLE01835 | ||
| 101331758 | TURTR05070 | ||
| 118881104 | BALMU20625 | ||
| 100675574 | LOXAF12984 | ||
| 100052969 | HORSE21332 | ||
| 733641 | PIGXX11455 | ||
| 613338 | BOVIN04787 |
