Gene: NDUFS2 (NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase))  Homo sapiens

Symbol: NDUFS2
Name: NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
Description: The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
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; NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial; NADH-ubiquinone oxidoreductase 49 kDa subunit; NADH-ubiquinone oxidoreductase NDUFS2 subunit; OTTHUMP00000032241
Orthologs: Mus musculus : Ndufs2 (NADH dehydrogenase (ubiquinone) Fe-S protein 2)  MGI
Rattus norvegicus : Ndufs2 (NADH dehydrogenase (ubiquinone) Fe-S protein 2)
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_11167,665,359 - 167,680,454+NCBI
Human Genome Assembly HuRef1132,526,050 - 132,541,132+NCBI
Human Genome Assembly GRCh371161,169,105 - 161,184,185+NCBI
Human Genome Assembly Build 361159,435,729 - 159,450,809+NCBI
Human Cytogenetic Map1q23 NCBI
Human Genome Assembly1157,982,177 - 157,997,255 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


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

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
 
More on NDUFS2
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 1316107
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2013-03-06
Status: ACTIVE