NDUFV2

Protein identityUniProt · HPA

UniProt accession

P19404

Gene

NDUFV2

Ensembl

ENSG00000178127

Chromosome

18

Canonical length

249 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Mitochondria,Cytosol

OverviewNCBI Gene

The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

249 residues, UniProt reviewed canonical sequence.

>P19404|NDUFV2
     1  MFFSAALRAR AAGLTAHWGR HVRNLHKTVM QNGAGGALFV HRDTPENNPD TPFDFTPENY
    61  KRIEAIVKNY PEGHKAAAVL PVLDLAQRQN GWLPISAMNK VAEVLQVPPM RVYEVATFYT
   121  MYNRKPVGKY HIQVCTTTPC MLRNSDSILE AIQKKLGIKV GETTPDKLFT LIEVECLGAC
   181  VNAPMVQIND NYYEDLTAKD IEEIIDELKA GKIPKPGPRS GRFSCEPAGG LTSLTEPPKG
   241  PGFGVQAGL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFV2 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)

0.38

Highest tissue expression

571 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFV2.

Disease | AllUniProt

Conditions NDUFV2 is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 7 (MC1DN7) MIM:618229

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 170 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex I deficiency, nuclear type 7
• Inborn genetic diseases

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)

0.83

gnomAD pLI

0.01

gnomAD missense Z

-0.55

DepMap mean gene effect

-0.21

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
• cardiac muscle tissue development
• mitochondrial electron transport, NADH to ubiquinone
• nervous system development
• proton motive force-driven mitochondrial ATP synthesis

Molecular functions

• 2 iron, 2 sulfur cluster binding
• electron transfer activity
• metal ion binding
• NADH dehydrogenase (ubiquinone) activity
• oxidoreductase activity

Cellular components

• mitochondrial inner membrane
• mitochondrion
• respiratory chain complex I

Protein domainsUniProt · Pfam · InterPro

• Thioredoxin-like superfamily
• NADH-quinone oxidoreductase subunit E-like
• NADH-quinone oxidoreductase subunit E, N-terminal
• NuoE domain
• Thioredoxin-like [2Fe-2S] ferredoxin

KeywordsUniProt

• 2Fe-2S
• Acetylation
• Electron transport
• Iron
• Iron-sulfur
• Membrane
• Metal-binding
• Mitochondrion
• Mitochondrion inner membrane
• NAD
• Oxidoreductase
• Phosphoprotein
• Primary mitochondrial disease
• Respiratory chain
• Transit peptide
• Translocase
• Transport
• Ubiquinone

InteractionsUniProt · HPA

Protein binding partners of NDUFV2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CCNC
• HSCB
• NDUFA2
• NDUFA9
• NDUFB3
• NDUFS7