NDUFA2

Protein identityUniProt · HPA

UniProt accession

O43678

Gene

NDUFA2

Ensembl

ENSG00000131495

Chromosome

5

Canonical length

99 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

99 residues, UniProt reviewed canonical sequence.

>O43678|NDUFA2
     1  MAAAAASRGV GAKLGLREIR IHLCQRSPGS QGVRDFIEKR YVELKKANPD LPILIRECSD
    61  VQPKLWARYA FGQETNVPLN NFSADQVTRA LENVLSGKA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFA2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

266 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFA2.

Disease | AllUniProt

Conditions NDUFA2 is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 13 (MC1DN13) MIM:618235

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 101 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex I deficiency, nuclear type 13
• Cystic Leukoencephalopathy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.61

gnomAD pLI

0.77

gnomAD missense Z

-0.24

DepMap mean gene effect

-0.44

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aerobic respiration
• blastocyst hatching
• mitochondrial electron transport, NADH to ubiquinone
• proton motive force-driven mitochondrial ATP synthesis

Molecular functions

• NADH dehydrogenase (ubiquinone) activity

Cellular components

• mitochondrial inner membrane
• mitochondrial membrane
• mitochondrion
• respiratory chain complex I

Protein domainsUniProt · Pfam · InterPro

• Ribosomal protein/NADH dehydrogenase domain
• Thioredoxin-like superfamily
• Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain
• NADH dehydrogenase [ubiquinone] (complex I), alpha subcomplex, subunit 2

KeywordsUniProt

• Acetylation
• Disulfide bond
• Electron transport
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease
• Respiratory chain
• Transport

InteractionsUniProt · HPA

Protein binding partners of NDUFA2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NDUFA12
• NDUFB11
• NDUFS3
• NDUFS4
• NDUFS6
• NDUFV1
• NDUFV2