NDUFAF2

Protein identityUniProt · HPA

UniProt accession

Q8N183

Gene

NDUFAF2

Ensembl

ENSG00000164182

Chromosome

5

Canonical length

169 aa

Protein class

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

Subcellular location

Mitochondria

OverviewNCBI Gene

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

169 residues, UniProt reviewed canonical sequence.

>Q8N183|NDUFAF2
     1  MGWSQDLFRA LWRSLSREVK EHVGTDQFGN KYYYIPQYKN WRGQTIREKR IVEAANKKEV
    61  DYEAGDIPTE WEAWIRRTRK TPPTMEEILK NEKHREEIKI KSQDFYEKEK LLSKETSEEL
   121  LPPPVQTQIK GHASAPYFGK EEPSVAPSST GKTFQPGSWM PRDGKSHNQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFAF2 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.47

Highest tissue expression

78 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFAF2.

Disease | AllUniProt

Conditions NDUFAF2 is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 10 (MC1DN10) MIM:618233

Disease | GeneticClinVar

20 pathogenic / likely-pathogenic of 154 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex I deficiency, nuclear type 10
• Leigh syndrome
• Inborn genetic diseases
• Mitochondrial complex I deficiency, nuclear type 1

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)

1.6

gnomAD pLI

0

gnomAD missense Z

-0.07

DepMap mean gene effect

-0.22

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

• cilium assembly
• mitochondrial respiratory chain complex I assembly
• negative regulation of insulin secretion involved in cellular response to glucose stimulus

Molecular functions

• protein-containing complex binding

Cellular components

• mitochondrial inner membrane
• mitochondrion
• respiratory chain complex I

Protein domainsUniProt · Pfam · InterPro

• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
• NADH ubiquinone oxidoreductase subunit NDUFA12
• Complex I NDUFA12 subunit

KeywordsUniProt

• Chaperone
• Cilium biogenesis/degradation
• Mitochondrion
• Phosphoprotein
• Primary mitochondrial disease
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of NDUFAF2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ARMC9