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    NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 [ Homo sapiens (human) ]

    Gene ID: 91942, updated on 8-Jul-2021

    Summary

    Official Symbol
    NDUFAF2provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase complex assembly factor 2provided by HGNC
    Primary source
    HGNC:HGNC:28086
    See related
    Ensembl:ENSG00000164182 MIM:609653
    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
    MMTN; B17.2L; MC1DN10; mimitin; NDUFA12L
    Summary
    NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 14.6), adrenal (RPKM 11.1) and 25 other tissues See more
    Orthologs
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    Genomic context

    See NDUFAF2 in Genome Data Viewer
    Location:
    5q12.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (60945205..61153026)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (60241032..60448853)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ERCC excision repair 8, CSA ubiquitin ligase complex subunit Neighboring gene G protein nucleolar 3 like pseudogene 1 Neighboring gene ERCC8 antisense RNA 1 Neighboring gene SMIM15 antisense RNA 1 Neighboring gene small integral membrane protein 15 Neighboring gene long intergenic non-protein coding RNA 2057

    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?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22398

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
    Names
    Myc-induced mitochondrial protein
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2
    NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
    NADH dehydrogenase 1 alpha subcomplex assembly factor 2
    NDUFA12-like protein
    mimitin, mitochondrial

    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.

    Genomic

    1. NG_008978.1 RefSeqGene

      Range
      5077..212898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_174889.5NP_777549.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2

      See identical proteins and their annotated locations for NP_777549.1

      Status: REVIEWED

      Source sequence(s)
      AC022445, AK026051, BC001753
      Consensus CDS
      CCDS3979.1
      UniProtKB/Swiss-Prot
      Q8N183
      UniProtKB/TrEMBL
      A0A0S2Z5U1
      Related
      ENSP00000296597.5, ENST00000296597.10
      Conserved Domains (1) summary
      cl01534
      Location:23102
      NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12

    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_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      60945205..61153026
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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