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    Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 [ Mus musculus (house mouse) ]

    Gene ID: 72900, updated on 9-Dec-2024

    Summary

    Official Symbol
    Ndufv2provided by MGI
    Official Full Name
    NADH:ubiquinone oxidoreductase core subunit V2provided by MGI
    Primary source
    MGI:MGI:1920150
    See related
    Ensembl:ENSMUSG00000024099 AllianceGenome:MGI:1920150
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2900010C23Rik
    Summary
    This gene encodes a subunit of the NADH-ubiquinone oxidoreductase (complex I) enzyme, which is a large, multimeric protein. It is the first enzyme complex in the mitochondrial electron transport chain and catalyzes the transfer of electrons from NADH to the electron acceptor ubiquinone. The proton gradient created by electron transfer drives the conversion of ADP to ATP. This gene is a core subunit and is conserved in prokaryotes and eukaryotes. The bovine ortholog of this protein has been characterized and is reported to contain an iron-sulfur cluster, which may be involved in electron transfer. In humans mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
    Expression
    Ubiquitous expression in heart adult (RPKM 109.5), testis adult (RPKM 63.8) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Ndufv2 in Genome Data Viewer
    Location:
    17 35.26 cM; 17 E1.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (66385790..66408554, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (66078795..66101559, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 35550 Neighboring gene STARR-seq mESC enhancer starr_43037 Neighboring gene twisted gastrulation BMP signaling modulator 1 Neighboring gene STARR-positive B cell enhancer ABC_E8691 Neighboring gene ankyrin repeat domain 12 Neighboring gene STARR-seq mESC enhancer starr_43040 Neighboring gene STARR-positive B cell enhancer ABC_E10965 Neighboring gene STARR-seq mESC enhancer starr_43041 Neighboring gene predicted gene, 23264 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:66456304-66456487 Neighboring gene STARR-positive B cell enhancer ABC_E10966 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:66460812-66460921 Neighboring gene STARR-positive B cell enhancer ABC_E7552 Neighboring gene WASH complex subunit 1 Neighboring gene DEAD/H box helicase 11

    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 (1) 
    • Transposon induced (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 2 iron, 2 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables NADH dehydrogenase (ubiquinone) activity IDA
    Inferred from Direct Assay
    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
     
    contributes_to NADH dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    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 
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in myelin sheath HDA PubMed 
    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
     

    General protein information

    Preferred Names
    NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial
    Names
    NADH dehydrogenase (ubiquinone) flavoprotein 2
    NADH-ubiquinone oxidoreductase 24 kDa subunit
    NP_001265344.1
    NP_082664.1

    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_001278415.1NP_001265344.1  NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and uses a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK146998, AK150404, BY246389, CF106105
      Consensus CDS
      CCDS70836.1
      UniProtKB/Swiss-Prot
      Q9D6J6
      Related
      ENSMUSP00000024909.10, ENSMUST00000024909.15
      Conserved Domains (1) summary
      pfam01257
      Location:1112
      2Fe-2S_thioredx; Thioredoxin-like [2Fe-2S] ferredoxin
    2. NM_028388.3NP_082664.1  NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK146998, BY246389
      Consensus CDS
      CCDS37679.1
      UniProtKB/Swiss-Prot
      Q3U9L9, Q8BU07, Q8K2L0, Q9D6J6
      Related
      ENSMUSP00000121557.2, ENSMUST00000143987.9
      Conserved Domains (1) summary
      pfam01257
      Location:62208
      2Fe-2S_thioredx; Thioredoxin-like [2Fe-2S] ferredoxin

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      66385790..66408554 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)