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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
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Genomic context

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See NDUFV2 in Genome Data Viewer
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
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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

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