Gene
ndufs2
- ID
- ZDB-GENE-050522-273
- Name
- NADH:ubiquinone oxidoreductase core subunit S2
- Symbol
- ndufs2 Nomenclature History
- Previous Names
-
- im:7149850
- zgc:112036
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have NAD binding activity; oxidoreductase activity, acting on NAD(P)H; and quinone binding activity. Predicted to be involved in oxidation-reduction process. Human ortholog(s) of this gene implicated in Leigh disease; hypertrophic cardiomyopathy; inherited metabolic disorder; mitochondrial complex I deficiency; and multiple sclerosis. Orthologous to human NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7149850 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| nuclear type mitochondrial complex I deficiency 6 | Alliance | Mitochondrial complex I deficiency, nuclear type 6 | 618228 |
| ?Leber-like hereditary optic neuropathy, autosomal recessive 2 | 620569 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | NADH-quinone oxidoreductase, subunit D | NADH:ubiquinone oxidoreductase, 49kDa subunit, conserved site | NAD(P)H-quinone oxidoreductase subunit D/H | [NiFe]-hydrogenase, large subunit |
|---|---|---|---|---|---|
|
UniProtKB:F1Q4N4
|
464 | ||||
|
UniProtKB:Q502L5
|
370 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ndufs2-201
(1)
|
Ensembl | 1,593 nt |
Interactions and Pathways
No data available
Plasmids
No data available