NDUFV2
NADH:Ubiquinone Oxidoreductase Core Subunit V2
Gene Information Card
| Symbol | NDUFV2 |
|---|---|
| Full Name | NADH:Ubiquinone Oxidoreductase Core Subunit V2 |
| Gene Type | Protein coding |
| Chromosomal Location | 18p11.22 |
| NCBI Gene ID | 4729 ncbi.nlm.nih.gov/gene/4729 |
| Ensembl ID | ENSG00000101464 |
| UniProt ID | P19404 |
| OMIM ID | 600532 |
| HGNC ID | 7716 |
| Aliases | CI-24k, CI24k, NDUFV2, NADH dehydrogenase (ubiquinone) flavoprotein 2 |
Description
The NDUFV2 gene encodes the 24 kDa subunit of mitochondrial NADH:ubiquinone oxidoreductase (complex I), the first enzyme of the electron transport chain. This subunit binds NADH and transfers electrons to FMN, playing a critical role in mitochondrial oxidative phosphorylation. Mutations in NDUFV2 are associated with mitochondrial complex I deficiency and Leigh syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leigh syndrome | Loss-of-function mutations impair complex I assembly/activity, reducing ATP production and causing neurodegeneration | ClinVar, OMIM |
| Mitochondrial complex I deficiency | Biallelic pathogenic variants disrupt electron transfer, leading to multisystem disorders | ClinVar, OMIM |
| Cardioencephalomyopathy | Severe complex I deficiency due to NDUFV2 mutations affects heart and brain | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 18.5 | High |
| Skeletal muscle | 15.2 | High |
| Liver | 12.1 | Medium |
| Brain | 10.8 | Medium |
| Kidney | 9.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 20.1 | High expression |
| HeLa | 15.6 | Moderate expression |
| HepG2 | 13.2 | Moderate expression |
| K562 | 8.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.178C>T (p.Arg60Trp) | Missense | Rare | Reduced complex I activity; associated with Leigh syndrome |
| c.466C>T (p.Arg156*) | Nonsense | Rare | Loss of function; leads to complex I deficiency |
| c.632G>A (p.Arg211Gln) | Missense | Rare | Impaired NADH binding; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic NDUFV2 mutations are loss-of-function, reducing complex I activity and ATP production.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects documented; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
| • NADH dehydrogenase (ubiquinone) activity | • mitochondrial electron transport |
| • NADH to ubiquinone | • mitochondrial inner membrane |
| • oxidation-reduction process | • FMN binding |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
• Complex I biogenesis (Reactome: R-HSA-6799198)
Protein Summary
NDUFV2 is a 24 kDa flavoprotein subunit of mitochondrial complex I. It contains an FMN-binding domain and is essential for NADH oxidation and electron transfer to ubiquinone. The protein is located in the mitochondrial inner membrane and is highly expressed in tissues with high energy demand, such as heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFV2 Knockout HEK293 Cell Line | EDJ-KQ50475 | Human | 4729 | Details Get a Quote |
| NDUFV2 Knockout HeLa Cell Line | EDJ-KQ53979 | Human | 4729 | Details Get a Quote |
| NDUFV2 Knockout A-549 Cell Line | EDJ-KQ62469 | Human | 4729 | Details Get a Quote |
| NDUFV2 Knockout HCT 116 Cell Line | EDJ-KQ70935 | Human | 4729 | Details Get a Quote |
