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    NDUFB2 NADH:ubiquinone oxidoreductase subunit B2 [ Homo sapiens (human) ]

    Gene ID: 4708, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NDUFB2provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit B2provided by HGNC
    Primary source
    HGNC:HGNC:7697
    See related
    Ensembl:ENSG00000090266 MIM:603838; AllianceGenome:HGNC:7697
    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
    AGGG; CI-AGGG
    Summary
    The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found within the hydrophobic protein (HP) fraction of complex I. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in heart (RPKM 93.9), kidney (RPKM 78.0) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See NDUFB2 in Genome Data Viewer
    Location:
    7q34
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (140696708..140706643)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (142010885..142020820)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (140396508..140406443)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375535 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:140346933-140347108 Neighboring gene RNA, 7SL, cytoplasmic 771, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:140378691-140379191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:140389463-140389963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26784 Neighboring gene NDUFB2 antisense RNA 1 Neighboring gene aarF domain containing kinase 2 Neighboring gene MPRA-validated peak6789 silencer Neighboring gene MPRA-validated peak6790 silencer Neighboring gene B-Raf proto-oncogene, serine/threonine kinase Neighboring gene MPRA-validated peak6791 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:140493623-140494822 Neighboring gene MPRA-validated peak6792 silencer Neighboring gene RNA, U6 small nuclear 85, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18716 Neighboring gene uncharacterized LOC105375536 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:140647102-140647507 Neighboring gene uncharacterized LOC107986720

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Differential-display polymerase chain reaction identifies nicotinamide adenine dinucleotide-ubiquinone oxidoreductase as an ischemia/reperfusion-regulated gene in cardiomyocytes. Yeh CH, et al. Chest, 2004 Jan. PMID 14718445
    2. Association of abnormal NDUFB2 and UQCRH expression with venous thromboembolism in patients with liver cirrhosis. Tan Y, et al. Medicine (Baltimore), 2024 Jan 5. PMID 38181234, Free PMC Article
    3. Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. Emahazion T, et al. Cytogenet Cell Genet, 1998. PMID 9763677
    4. cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. Loeffen JL, et al. Biochem Biophys Res Commun, 1998 Dec 18. PMID 9878551
    5. Accessory subunits are integral for assembly and function of human mitochondrial complex I. Stroud DA, et al. Nature, 2016 Oct 6. PMID 27626371

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of abnormal NDUFB2 and UQCRH expression with venous thromboembolism in patients with liver cirrhosis.
      Title: Association of abnormal NDUFB2 and UQCRH expression with venous thromboembolism in patients with liver cirrhosis.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. NADH:ubiquinone oxidoreductase gene may have a role in the regulation of molecular changes during the global cardiac ischemia/reperfusion injury during CPB
      Title: Differential-display polymerase chain reaction identifies nicotinamide adenine dinucleotide-ubiquinone oxidoreductase as an ischemia/reperfusion-regulated gene in cardiomyocytes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • MGC70788

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial respiratory chain complex I assembly 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 proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP 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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial
    Names
    NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa
    NADH-ubiquinone oxidoreductase AGGG subunit
    complex I AGGG subunit
    complex I-AGGG
    NP_004537.1

    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_004546.3 → NP_004537.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial precursor

      See identical proteins and their annotated locations for NP_004537.1

      Status: REVIEWED

      Source sequence(s)
      AF067166
      Consensus CDS
      CCDS5862.1
      UniProtKB/Swiss-Prot
      O95178, Q6FGI6
      UniProtKB/TrEMBL
      A4D1T5, H7C5B8
      Related
      ENSP00000247866.4, ENST00000247866.9
      Conserved Domains (1) summary
      pfam14813
      Location:37 → 104
      NADH_B2; NADH dehydrogenase 1 beta subcomplex subunit 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      140696708..140706643
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      142010885..142020820
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95178.1 GenPept UniProtKB/Swiss-Prot:O95178

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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