Version: 8.0.0
Date: Tue Jan 28 2025
NDUFS2
Homo sapiensHGNC:7708
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

NDUFS2

Species
Homo sapiens
Symbol
NDUFS2
Name
NADH:ubiquinone oxidoreductase core subunit S2
Synonyms
  • CI-49
  • CI-49kD
Biotype
protein coding gene
Automated Description
Enables oxygen sensor activity and ubiquitin protein ligase binding activity. Contributes to NADH dehydrogenase (ubiquinone) activity and NADH dehydrogenase activity. Involved in cellular response to oxygen levels and mitochondrial electron transport, NADH to ubiquinone. Located in mitochondrion and nucleoplasm. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leigh disease; hypertrophic cardiomyopathy; inherited metabolic disorder; multiple sclerosis; and nuclear type mitochondrial complex I deficiency 6.
RGD 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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11993
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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    Allele Synonyms
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
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      Regulatory regions
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          NDUFS2 molecule type
          Interactor gene
          Interactor species
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            Genetic Interactions

            NDUFS2 role
            NDUFS2 genetic perturbation
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