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Gene

NDUFV2

NADH:ubiquinone oxidoreductase core subunit V2

Summary

Cytogenetic location
18p11.22
Coordinates
Chromosome 18: 9,102,699–9,134,341 (GRCh38)
Exons
8 exons across 31.6 kb
Protein
249 amino acids
Also known as
CI-24k
MANE Select transcript
ENST00000318388.11NM_021074.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Primary Mitochondrial Disease

      • Mitochondrial Respiratory Chain Complex Deficiency

        One of 61 genes linked to it

        Isolated deficiencies of complex I, II, III, IV or V, caused by variants in nuclear or mitochondrial genes, which can affect the brain, muscles, heart, liver and other energy-demanding organs.

        • 2 GenCC submitters rate it definitive or strong
        What knowing changes

        Knowing can end a diagnostic search and guide surveillance of affected organs and avoidance of drugs toxic to mitochondria.

    How NDUFV2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 18, with a bracket where NDUFV2 sits. NDUFV2 and 6 genes near it on chromosome 18, from 8,618,520 to 9,618,519.Chromosome 1818p11.22p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q238.8 Mb9 Mb9.2 Mb9.4 Mb9.6 MbRAB12: 8,609,405–8,639,383, forward strandRAB12MTCL1: 8,705,228–8,832,780, forward strandMTCL1NDUFV2: 9,102,699–9,134,341, forward strandNDUFV2ANKRD12: 9,136,228–9,285,985, forward strandANKRD12TWSG1: 9,334,618–9,402,424, forward strandTWSG1RALBP1: 9,474,991–9,538,114, forward strandRALBP1PPP4R1: 9,546,791–9,615,240, reverse strandPPP4R1Diagram of NDUFV2: 8 exons on the forward strand of chromosome 18Exon 2: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 1: 9,102,699–9,102,797, 99 basesExon 2: 9,117,838–9,117,903, 66 basesExon 3: 9,119,326–9,119,388, 63 basesExon 4: 9,119,474–9,119,590, 117 basesExon 5: 9,122,513–9,122,681, 169 basesExon 6: 9,124,874–9,124,983, 110 basesExon 7: 9,126,831–9,126,907, 77 basesExon 8: 9,134,186–9,134,341, 156 bases124685′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 0.9 kb of the gene's 31.6 kb; 750 of those bases code for the protein.

    How a genome test reads NDUFV2

    6

    positions in NDUFV2 where ClinVar classes a change as pathogenic or likely pathogenic

    1 of them (17%) falls in a region short reads find hard.

    • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

    A whole genome covers all 31.6 kb of NDUFV2, introns included, not only the 0.9 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). NDUFV2 gene: NADH:ubiquinone oxidoreductase core subunit V2. Retrieved 17 October 2026, from https://dantelabs.com/genes/ndufv2

    Vancouver

    Dante Labs. NDUFV2 gene: NADH:ubiquinone oxidoreductase core subunit V2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ndufv2

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