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Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 [ Mus musculus (house mouse) ]

Gene ID: 226646, updated on 18-Apr-2024

Summary

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Official Symbol
Ndufs2provided by MGI
Official Full Name
NADH:ubiquinone oxidoreductase core subunit S2provided by MGI
Primary source
MGI:MGI:2385112
See related
Ensembl:ENSMUSG00000013593 AllianceGenome:MGI:2385112
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
CI-49kD
Summary
Enables NADH dehydrogenase (ubiquinone) activity and oxygen sensor activity. Involved in several processes, including cellular response to oxygen levels; gliogenesis; and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Is expressed in several structures, including alimentary system; integumental system; nervous system; respiratory system; and sensory organ. 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). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart adult (RPKM 305.9), kidney adult (RPKM 146.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
1 H3; 1 79.25 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (171062426..171078956, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (171234853..171251686, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene translocase of outer mitochondrial membrane 40-like Neighboring gene STARR-positive B cell enhancer ABC_E1573 Neighboring gene apolipoprotein A-II Neighboring gene Fc receptor, IgE, high affinity I, gamma polypeptide Neighboring gene STARR-seq mESC enhancer starr_03024 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 4 Neighboring gene UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 3 Neighboring gene STARR-positive B cell enhancer mm9_chr1:173211225-173211526 Neighboring gene protoporphyrinogen oxidase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Mitochondrial Complex I Function Is Essential for Neural Stem/Progenitor Cells Proliferation and Differentiation. Cabello-Rivera D, et al. Front Neurosci, 2019. PMID 31297047, Free PMC Article
  2. Acute O(2) Sensing: Role of Coenzyme QH(2)/Q Ratio and Mitochondrial ROS Compartmentalization. Arias-Mayenco I, et al. Cell Metab, 2018 Jul 3. PMID 29887397
  3. Disruption of mitochondrial complex I induces progressive parkinsonism. González-Rodríguez P, et al. Nature, 2021 Nov. PMID 34732887, Free PMC Article
  4. Reduced expression of mitochondrial complex I subunit Ndufs2 does not impact healthspan in mice. McElroy GS, et al. Sci Rep, 2022 Mar 25. PMID 35338200, Free PMC Article
  5. Ndufs2, a Core Subunit of Mitochondrial Complex I, Is Essential for Acute Oxygen-Sensing and Hypoxic Pulmonary Vasoconstriction. Dunham-Snary KJ, et al. Circ Res, 2019 Jun 7. PMID 30922174, Free PMC Article

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Reduced expression of mitochondrial complex I subunit Ndufs2 does not impact healthspan in mice.
    Title: Reduced expression of mitochondrial complex I subunit Ndufs2 does not impact healthspan in mice.
  2. LASS2 regulates hepatocyte steatosis by interacting with NDUFS2/OXPHOS related proteins.
    Title: LASS2 regulates hepatocyte steatosis by interacting with NDUFS2/OXPHOS related proteins.
  3. Ndufs2 was identified as a redox-sensitive pulmonary vascular O2 sensor in hypoxic pulmonary vasoconstriction.
    Title: Ndufs2, a Core Subunit of Mitochondrial Complex I, Is Essential for Acute Oxygen-Sensing and Hypoxic Pulmonary Vasoconstriction.
  4. Ndufs2-null mice lose the hyperventilatory response to hypoxia, although they respond to hypercapnia. Ndufs2-deficient CB cells have normal functions and ATP content but are insensitive to changes in PO2.
    Title: Oxygen Sensing by Arterial Chemoreceptors Depends on Mitochondrial Complex I Signaling.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (1)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC27667

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
  
enables NAD binding IEA
Inferred from Electronic Annotation
more info
  
enables NADH dehydrogenase (ubiquinone) activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
contributes_to NADH dehydrogenase (ubiquinone) activity ISO
Inferred from Sequence Orthology
more info
  
contributes_to NADH dehydrogenase activity ISO
Inferred from Sequence Orthology
more info
  
enables iron-sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity, acting on NAD(P)H IEA
Inferred from Electronic Annotation
more info
  
enables oxygen sensor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables oxygen sensor activity ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables quinone binding IEA
Inferred from Electronic Annotation
more info
  
enables ubiquitin protein ligase binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in aerobic respiration NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cellular response to oxygen levels IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to oxygen levels ISO
Inferred from Sequence Orthology
more info
  
involved_in gliogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial ATP synthesis coupled electron transport ISO
Inferred from Sequence Orthology
more info
  
involved_in mitochondrial electron transport, NADH to ubiquinone IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial electron transport, NADH to ubiquinone ISO
Inferred from Sequence Orthology
more info
  
involved_in mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neural precursor cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neurogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in proton motive force-driven mitochondrial ATP synthesis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in response to oxidative stress ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrial inner membrane ISO
Inferred from Sequence Orthology
more info
  
part_of mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial respiratory chain complex I ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion HDA PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in respirasome IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial
Names
NADH dehydrogenase (ubiquinone) Fe-S protein 2
NADH-coenzyme Q reductase
NADH-ubiquinone oxidoreductase 49 kDa subunit
complex I-49kD
NP_001408411.1
NP_694704.1
XP_030109284.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001421482.1 → NP_001408411.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC084821
    UniProtKB/TrEMBL
    D3YXT0

  2. NM_153064.6 → NP_694704.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_694704.1

    Status: VALIDATED

    Source sequence(s)
    AC084821
    Consensus CDS
    CCDS15484.1
    UniProtKB/Swiss-Prot
    Q3TNA8, Q3U5Y9, Q3UJX7, Q91WD5, Q99L23
    Related
    ENSMUSP00000013737.7, ENSMUST00000013737.13
    Conserved Domains (1) summary
    PRK06075
    Location:74 → 463
    PRK06075; NADH-quinone oxidoreductase subunit D

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    171062426..171078956 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030253424.2 → XP_030109284.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q3TNA8, Q3U5Y9, Q3UJX7, Q91WD5, Q99L23
    Conserved Domains (1) summary
    PRK06075
    Location:74 → 463
    PRK06075; NADH-quinone oxidoreductase subunit D
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q91WD5.1 GenPept UniProtKB/Swiss-Prot:Q91WD5

Gene LinkOut

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