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
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ndufs2 Human Ortholog
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
Associated With ndufs2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR014029 NADH:ubiquinone oxidoreductase, 49kDa subunit, conserved site
Domain IPR001135 NADH-quinone oxidoreductase, subunit D
Family IPR022885 NAD(P)H-quinone oxidoreductase subunit D/H
Homologous_superfamily IPR029014 [NiFe]-hydrogenase, large subunit
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:Q502L5 370
UniProtKB:F1Q4N4 464
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations