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MT-ND2

Chr mitochondria

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2

Aliases:
ND2, NAD2

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Likely inborn error of metabolism

    MITOCHONDRIAL
  • Mitochondrial disorders

    MITOCHONDRIAL
  • Undiagnosed metabolic disorders

    MITOCHONDRIAL
  • Optic neuropathy

    MITOCHONDRIAL
  • Albinism or congenital nystagmus

    MITOCHONDRIAL
  • Infantile nystagmus

    MITOCHONDRIAL
  • Childhood onset dystonia, chorea or related movement disorder

    MITOCHONDRIAL

Disease associations (Open Targets)

  • Leber hereditary optic neuropathy

    0.69
  • mitochondrial disease

    0.67
  • Leigh syndrome

    0.67
  • mitochondrial complex I deficiency

    0.65
  • type 2 diabetes mellitus

    0.61
  • mitochondrial non-syndromic sensorineural hearing loss

    0.59
  • diabetes mellitus

    0.58
  • MELAS syndrome

    0.57
  • Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure

    0.56
  • MERRF syndrome

    0.52

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

NADH-ubiquinone oxidoreductase chain 2

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:16996290). Essential for the catalytic activity and assembly of complex I (PubMed:16996290)

Curated MONDO disease pages that list MT-ND2 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.