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Gene

NDUFB3

NADH:ubiquinone oxidoreductase subunit B3

Summary

Cytogenetic location
2q33.1
Coordinates
Chromosome 2: 201,072,001–201,085,750 (GRCh38)
Exons
3 exons across 13.8 kb
Protein
98 amino acids
Also known as
B12
MANE Select transcript
ENST00000237889.9NM_002491.3
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.

        • 3 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 NDUFB3 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 2, with a bracket where NDUFB3 sits. NDUFB3 and 15 genes near it on chromosome 2, from 200,578,876 to 201,578,875.Chromosome 22q33.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3200.6 Mb200.8 Mb201 Mb201.2 Mb201.4 MbSGO2: 200,510,008–200,584,096, forward strandSGO2AOX1: 200,585,864–200,677,064, forward strandAOX1BZW1: 200,810,594–200,827,921, forward strandBZW1CLK1: 200,853,009–200,864,728, reverse strandCLK1PPIL3: 200,870,907–200,889,358, reverse strandPPIL3NIF3L1: 200,888,992–200,905,579, forward strandNIF3L1ORC2: 200,908,684–200,963,704, reverse strandORC2HYCC2: 200,966,317–201,071,700, reverse strandHYCC2NDUFB3: 201,072,001–201,085,750, forward strandNDUFB3CFLAR: 201,116,005–201,176,687, forward strandCFLARCASP10: 201,182,693–201,229,428, forward strandCASP10CASP8: 201,233,443–201,361,836, forward strandCASP8FLACC1: 201,287,397–201,357,398, reverse strandFLACC1TRAK2: 201,377,207–201,453,449, reverse strandTRAK2STRADB: 201,387,858–201,502,687, forward strandSTRADBCATSPERT: 201,487,421–201,619,179, reverse strandCATSPERTDiagram of NDUFB3: 3 exons on the forward strand of chromosome 2Exon 2: 3 known disease-causing sitesExon 3: 1 known disease-causing siteExon 1: 201,072,001–201,072,059, 59 basesExon 2: 201,078,881–201,079,022, 142 basesExon 3: 201,085,459–201,085,750, 292 bases1235′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 0.5 kb of the gene's 13.8 kb; 297 of those bases code for the protein.

    How a genome test reads NDUFB3

    4

    positions in NDUFB3 where ClinVar classes a change as pathogenic or likely pathogenic

    1 of them (25%) 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 13.8 kb of NDUFB3, introns included, not only the 0.5 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.). NDUFB3 gene: NADH:ubiquinone oxidoreductase subunit B3. Retrieved 17 October 2026, from https://dantelabs.com/genes/ndufb3

    Vancouver

    Dante Labs. NDUFB3 gene: NADH:ubiquinone oxidoreductase subunit B3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ndufb3

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