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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7149850 (1 image)

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
		?Leber-like hereditary optic neuropathy, autosomal recessive 2	620569

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