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    NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 [ Homo sapiens (human) ]

    Gene ID: 4720, updated on 9-Jul-2021

    Summary

    Official Symbol
    NDUFS2provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase core subunit S2provided by HGNC
    Primary source
    HGNC:HGNC:7708
    See related
    Ensembl:ENSG00000158864 MIM:602985
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CI-49; MC1DN6
    Summary
    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]
    Expression
    Ubiquitous expression in heart (RPKM 60.3), kidney (RPKM 35.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NDUFS2 in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (161197417..161214395)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161167207..161184185)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 21 Neighboring gene protoporphyrinogen oxidase Neighboring gene beta-1,4-galactosyltransferase 3 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 4 Neighboring gene Fc fragment of IgE receptor Ig Neighboring gene apolipoprotein A2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    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
     
    contributes_to NADH dehydrogenase (ubiquinone) activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    contributes_to NADH dehydrogenase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables electron transfer activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxygen sensor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to oxygen levels IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in gliogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitochondrial ATP synthesis coupled electron transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in mitochondrial respiratory chain complex I assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neural precursor cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neurogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    part_of mitochondrial respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of mitochondrial respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of mitochondrial respiratory chain complex I IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of mitochondrial respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial
    Names
    CI-49kD
    NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
    NADH-ubiquinone oxidoreductase 49 kDa subunit
    NADH-ubiquinone oxidoreductase NDUFS2 subunit
    complex 1, mitochondrial respiratory chain, 49-KD subunit
    complex I 49kDa subunit
    NP_001159631.1
    NP_001364227.1
    NP_001364228.1
    NP_001364229.1
    NP_001364230.1
    NP_001364231.1
    NP_004541.1
    XP_005245266.1

    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.

    Genomic

    1. NG_013352.1 RefSeqGene

      Range
      5001..20081
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166159.2NP_001159631.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs at the 3' end compared to variant 1, resulting in a shorter isoform (2) with a distinct C-terminus compared to isoform 1. Variants 2, 5, 6, and 7 all encode the same isoform (2).
      Source sequence(s)
      AL590714
      Consensus CDS
      CCDS53404.1
      UniProtKB/Swiss-Prot
      O75306
      UniProtKB/TrEMBL
      B7Z792
      Related
      ENSP00000376018.4, ENST00000392179.5
      Conserved Domains (1) summary
      PRK06075
      Location:77457
      PRK06075; NADH-quinone oxidoreductase subunit D
    2. NM_001377298.1NP_001364227.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 1 and 4, encodes isoform 1.
      Source sequence(s)
      AL590714
      Related
      ENSP00000504199.1, ENST00000678507.1
      Conserved Domains (1) summary
      PRK06075
      Location:77463
      PRK06075; NADH-quinone oxidoreductase subunit D
    3. NM_001377299.1NP_001364228.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 1 and 3, encodes isoform 1.
      Source sequence(s)
      AL590714
      Related
      ENSP00000503117.1, ENST00000676972.1
      Conserved Domains (1) summary
      PRK06075
      Location:77463
      PRK06075; NADH-quinone oxidoreductase subunit D
    4. NM_001377300.1NP_001364229.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 2, 6, and 7, encodes isoform 2.
      Source sequence(s)
      AL590714
      Related
      ENSP00000503353.1, ENST00000677550.1
      Conserved Domains (1) summary
      PRK06075
      Location:77457
      PRK06075; NADH-quinone oxidoreductase subunit D
    5. NM_001377301.1NP_001364230.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 2, 5, and 7, encodes isoform 2.
      Source sequence(s)
      AL590714
      Related
      ENSP00000504170.1, ENST00000679176.1
      Conserved Domains (1) summary
      PRK06075
      Location:77457
      PRK06075; NADH-quinone oxidoreductase subunit D
    6. NM_001377302.1NP_001364231.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 2, 5, and 6, encodes isoform 2.
      Source sequence(s)
      AL590714
      Conserved Domains (1) summary
      PRK06075
      Location:77457
      PRK06075; NADH-quinone oxidoreductase subunit D
    7. NM_004550.5NP_004541.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_004541.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 3, and 4 all encode the same isoform (1).
      Source sequence(s)
      BC000170, BC008868
      Consensus CDS
      CCDS1224.1
      UniProtKB/Swiss-Prot
      O75306
      Related
      ENSP00000356972.3, ENST00000367993.7
      Conserved Domains (1) summary
      PRK06075
      Location:77463
      PRK06075; NADH-quinone oxidoreductase subunit D

    RNA

    1. NR_165188.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL590714
      Related
      ENST00000678880.1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      161197417..161214395
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245209.2XP_005245266.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform X1

      Related
      ENST00000496553.6
      Conserved Domains (2) summary
      PRK06075
      Location:1365
      PRK06075; NADH dehydrogenase subunit D; Validated
      COG0649
      Location:1365
      NuoD; NADH:ubiquinone oxidoreductase 49 kD subunit (chain D) [Energy production and conversion]
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