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Gene: NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2) Homo sapiens
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Symbol: NDUFS2
Name: NADH:ubiquinone oxidoreductase core subunit S2
Description: Exhibits ubiquitin protein ligase binding activity. Contributes to NADH dehydrogenase activity. Involved in mitochondrial ATP synthesis coupled electron transport and response to oxidative stress. Localizes to mitochondrial respiratory chain complex I and nucleoplasm. Implicated in Leigh disease; hypertrophic cardiomyopathy; inherited metabolic disorder; mitochondrial complex I deficiency; and multiple sclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CI-49; CI-49kD; complex 1, mitochondrial respiratory chain, 49-KD subunit; complex I 49kDa subunit; complex I-49kD; MC1DN6; NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase); NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial; NADH-ubiquinone oxidoreductase 49 kDa subunit; NADH-ubiquinone oxidoreductase NDUFS2 subunit
Orthologs:
Mus musculus (house mouse) : Ndufs2 (NADH:ubiquinone oxidoreductase core subunit S2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ndufs2 (NADH:ubiquinone oxidoreductase core subunit S2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ndufs2 (NADH:ubiquinone oxidoreductase core subunit S2)
Pan paniscus (bonobo/pygmy chimpanzee) : NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2)
Canis lupus familiaris (dog) : NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ndufs2 (NADH:ubiquinone oxidoreductase core subunit S2)
Sus scrofa (pig) : NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2)
Chlorocebus sabaeus (African green monkey) : NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2)
Heterocephalus glaber (naked mole-rat) : Ndufs2 (NADH:ubiquinone oxidoreductase core subunit S2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1161,197,104 - 161,214,395 (+)EnsemblGRCh38hg38GRCh38
GRCh381161,197,417 - 161,214,395 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371161,167,209 - 161,184,185 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361159,435,729 - 159,450,809 (+)NCBINCBI36hg18NCBI36
Build 341157,982,177 - 157,997,255NCBI
Celera1134,236,257 - 134,251,337 (+)NCBI
Cytogenetic Map1q23.3NCBI
HuRef1132,526,050 - 132,541,132 (+)NCBIHuRef
CHM1_11162,565,343 - 162,580,438 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on NDUFS2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1316107
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-05-05
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.