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 enable NADH dehydrogenase (ubiquinone) activity. Predicted to be involved in mitochondrial electron transport, NADH to ubiquinone. Predicted to be part of mitochondrial respiratory chain complex I. Human ortholog(s) of this gene implicated in Leigh disease; hypertrophic cardiomyopathy; inherited metabolic disorder; multiple sclerosis; and nuclear type mitochondrial complex I deficiency 6. 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