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

    Gene ID: 226646, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 305.9), kidney adult (RPKM 146.8) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Ndufs2 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    enables NADH dehydrogenase (ubiquinone) activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables NADH dehydrogenase (ubiquinone) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    contributes_to NADH dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to NADH dehydrogenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding 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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    part_of respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of respiratory chain complex I ISO
    Inferred from Sequence Orthology
    more info
     
    part_of respiratory chain complex I ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_001421482.1NP_001408411.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC084821
      UniProtKB/TrEMBL
      D3YXT0
      Related
      ENSMUSP00000106950.2, ENSMUST00000111318.8
    2. NM_153064.6NP_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:74463
      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_030253424.2XP_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:74463
      PRK06075; NADH-quinone oxidoreductase subunit D