U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 [ Homo sapiens (human) ]

    Gene ID: 4695, updated on 17-Jun-2024

    Summary

    Official Symbol
    NDUFA2provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit A2provided by HGNC
    Primary source
    HGNC:HGNC:7685
    See related
    Ensembl:ENSG00000131495 MIM:602137; AllianceGenome:HGNC:7685
    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
    B8; CD14; CIB8; MC1DN13
    Summary
    The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
    Expression
    Ubiquitous expression in kidney (RPKM 47.3), fat (RPKM 36.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NDUFA2 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (140645285..140647630, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (141170692..141173036, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (140024870..140027215, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene transmembrane and coiled-coil domains 6 Neighboring gene ribosomal protein L36 pseudogene 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140011403-140011904 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140011905-140012404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16452 Neighboring gene CD14 molecule Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:140026953-140027488 Neighboring gene microRNA 3655 Neighboring gene IK cytokine Neighboring gene uncharacterized LOC124901088 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140043900-140044566 Neighboring gene WD repeat domain 55

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    General protein information

    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2
    Names
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
    NADH-ubiquinone oxidoreductase subunit CI-B8
    complex I B8 subunit
    NP_001171941.1
    NP_002479.1

    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_021417.1 RefSeqGene

      Range
      5156..7501
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001185012.2NP_001171941.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a protein with a shorter and distinct C-terminus (isoform 2), compared to isoform 1. It is unknown if isoform 2 is located to the mitochondria and/or if it is functional.
      Source sequence(s)
      AA993683, BQ054127
      Consensus CDS
      CCDS54911.1
      UniProtKB/Swiss-Prot
      O43678
      Related
      ENSP00000427220.1, ENST00000512088.1
      Conserved Domains (1) summary
      smart00916
      Location:2869
      L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain
    2. NM_002488.5NP_002479.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 isoform 1

      See identical proteins and their annotated locations for NP_002479.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA993683, AC116353, BC003674
      Consensus CDS
      CCDS4234.1
      UniProtKB/Swiss-Prot
      D6RJD6, O43678, Q6IAY8
      Related
      ENSP00000252102.5, ENST00000252102.9
      Conserved Domains (1) summary
      smart00916
      Location:2897
      L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

    RNA

    1. NR_033697.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) retains an intron, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA993683, AC116353, BM706616

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      140645285..140647630 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      141170692..141173036 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)