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    NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 [ Homo sapiens (human) ]

    Gene ID: 4729, updated on 11-Apr-2024

    Summary

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    Official Symbol
    NDUFV2provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase core subunit V2provided by HGNC
    Primary source
    HGNC:HGNC:7717
    See related
    Ensembl:ENSG00000178127 MIM:600532; AllianceGenome:HGNC:7717
    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-24k; MC1DN7
    Summary
    The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. 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 non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in heart (RPKM 60.6), liver (RPKM 55.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    18p11.22
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (9102699..9134341)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (9266137..9297787)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (9102697..9134339)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:9022070-9022745 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:9037094-9037241 Neighboring gene ribosomal protein S4X pseudogene 19 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9276 Neighboring gene uncharacterized LOC124904243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13067 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9277 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:9103057-9103766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13070 Neighboring gene NDUFV2 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:9135881-9136054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9280 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9281 Neighboring gene ankyrin repeat domain 12 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:9264498-9265100 Neighboring gene small nucleolar RNA U13 Neighboring gene TWSG1 divergent transcript

    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. Association between single-nucleotide polymorphism rs145497186 related to NDUFV2 and lumbar disc degeneration: a pilot case-control study. Wang Z, et al. J Orthop Surg Res, 2022 Oct 29. PMID 36309697, Free PMC Article
    2. Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2. Kishita Y, et al. Hum Mutat, 2021 Nov. PMID 34405929
    3. Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy. Liu Z, et al. J Med Genet, 2022 Apr. PMID 33811136, Free PMC Article
    4. A haplotype in the 5'-upstream region of the NDUFV2 gene is associated with major depressive disorder in Han Chinese. Zhang Z, et al. J Affect Disord, 2016 Jan 15. PMID 26544616
    5. Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. Cameron JM, et al. Eur J Paediatr Neurol, 2015 Sep. PMID 26008862

    See all (88) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association between single-nucleotide polymorphism rs145497186 related to NDUFV2 and lumbar disc degeneration: a pilot case-control study.
      Title: Association between single-nucleotide polymorphism rs145497186 related to NDUFV2 and lumbar disc degeneration: a pilot case-control study.
    2. Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.
      Title: Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.
    3. Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2.
      Title: Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2.
    4. Sex-specific genetic regulation of adipose mitochondria and metabolic syndrome by Ndufv2.
      Title: Sex-specific genetic regulation of adipose mitochondria and metabolic syndrome by Ndufv2.
    5. Identifying Mitochondrial-Related Genes NDUFA10 and NDUFV2 as Prognostic Markers for Prostate Cancer through Biclustering.
      Title: Identifying Mitochondrial-Related Genes NDUFA10 and NDUFV2 as Prognostic Markers for Prostate Cancer through Biclustering.
    6. NDUFV2 pseudogene (NDUFV2P1) contributes to mitochondrial complex I deficits in schizophrenia.
      Title: NDUFV2 pseudogene (NDUFV2P1) contributes to mitochondrial complex I deficits in schizophrenia.
    7. haplotype T-C consisting of rs12457810 and rs12964485 in the 5'-upstream region of NDUFV2 may be a protective factor for the development of MDD in Han Chinese
      Title: A haplotype in the 5'-upstream region of the NDUFV2 gene is associated with major depressive disorder in Han Chinese.
    8. We have identified NDUFV2 mutations in two families with Complex I deficiency, including a novel mutation.
      Title: Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.
    9. The results show mitochondrial haplotypes associated with polymorphism of this gene are associated with elite middle and sprint power endurance in Japanese athletes
      Title: Mitochondrial haplogroups associated with elite Japanese athlete status.
    10. There is no statistical significance between NDUFV2 gene promoter variants and susceptibility to schizophrenia in Han Chinese.
      Title: Common promoter variants of the NDUFV2 gene do not confer susceptibility to schizophrenia in Han Chinese.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    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

    Associated conditions

    Description Tests
    Mitochondrial complex 1 deficiency, nuclear type 7
    MedGen: C4748760 OMIM: 618229 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Gene Ontology Provided by GOA

    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 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables electron transfer activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cardiac muscle tissue development 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
    		  
    involved_in mitochondrial electron transport, NADH to ubiquinone IDA
    Inferred from Direct Assay
    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 nervous system development 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 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
    		  
    part_of mitochondrial respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 IPI
    Inferred from Physical Interaction
    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 

    General protein information

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    Preferred Names
    NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial
    Names
    NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
    NADH dehydrogenase ubiquinone flavoprotein 2, mitochondrial
    NADH-ubiquinone oxidoreductase 24 kDa subunit
    NADH-ubiquinone oxidoreductase flavoprotein 2
    complex I 24kDa subunit
    complex I, mitochondrial respitory chain, 24 kD subunit
    nuclear-encoded mitochondrial NADH-ubiquinone reductase 24Kd subunit
    NP_066552.2
    XP_016881271.1
    XP_054174636.1

    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.

    Genomic

    1. NG_013355.1 RefSeqGene

      Range
      5070..36712
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021074.5 → NP_066552.2  NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial precursor

      See identical proteins and their annotated locations for NP_066552.2

      Status: REVIEWED

      Source sequence(s)
      BC001632, BG742948
      Consensus CDS
      CCDS11842.1
      UniProtKB/Swiss-Prot
      P19404, Q9BV41
      UniProtKB/TrEMBL
      A8K750, Q6IB76
      Related
      ENSP00000327268.6, ENST00000318388.11
      Conserved Domains (1) summary
      pfam01257
      Location:63 → 209
      2Fe-2S_thioredx; Thioredoxin-like [2Fe-2S] ferredoxin

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      9102699..9134341
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025782.2 → XP_016881271.1  NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial isoform X1

      UniProtKB/TrEMBL
      Q9UEH5
      Conserved Domains (2) summary
      COG1905
      Location:22 → 183
      NuoE; NADH:ubiquinone oxidoreductase 24 kD subunit (chain E) [Energy production and conversion]
      pfam01257
      Location:34 → 180
      2Fe-2S_thioredx; Thioredoxin-like [2Fe-2S] ferredoxin

    RNA

    1. XR_243808.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      9266137..9297787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318661.1 → XP_054174636.1  NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial isoform X1

    RNA

    1. XR_008485000.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P19404.2 GenPept UniProtKB/Swiss-Prot:P19404

    Gene LinkOut

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

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