NDUFV2 - NADH:ubiquinone oxidoreductase core subunit V2 Gene
Also Known as CI-24k; MC1DN7
Species: Homo sapiens
About NDUFV2
This gene has 9 transcripts (splice variants), 238 orthologues and is associated with 4 phenotypes. Ubiquitous expression in heart (RPKM 60.6), liver (RPKM 55.1) and 25 other tissues.
Summary
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]
NDUFV2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_021074.5 | NP_066552.2 | NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables NADH dehydrogenase (ubiquinone) activity |
IDA
IDA: Inferred from direct assay
|
28844695 | GOA |
| contributes to NADH dehydrogenase (ubiquinone) activity |
IMP
IMP: Inferred from mutant phenotype
|
12754703 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
28380382 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cardiac muscle tissue development |
IMP
IMP: Inferred from mutant phenotype
|
12754703 | GOA |
| involved in mitochondrial electron transport, NADH to ubiquinone |
IDA
IDA: Inferred from direct assay
|
28844695 | GOA |
| involved in mitochondrial electron transport, NADH to ubiquinone |
IMP
IMP: Inferred from mutant phenotype
|
12754703 | GOA |
| involved in nervous system development |
IMP
IMP: Inferred from mutant phenotype
|
9570948 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrial inner membrane |
IDA
IDA: Inferred from direct assay
|
28844695 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
12754703 | GOA |
| part of respiratory chain complex I |
IDA
IDA: Inferred from direct assay
|
12611891 | GOA |
| part of respiratory chain complex I |
IMP
IMP: Inferred from mutant phenotype
|
12754703 | GOA |
NDUFV2 Protein Structure
2Fe-2S_thioredx: Thioredoxin-like [2Fe-2S] ferredoxin (63 - 209)
- 0
- 100
- 200
- 249 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial |
|
NDUFV2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
NDUFV2 | P19404 | VPS26A | Homo sapiens | O75436 | 32814053 | |
|
Intra
|
NDUFV2 | P19404 | VPS26A | Homo sapiens | O75436 | 32814053 | |
|
Intra
|
NDUFV2 | P19404 | VPS26A | Homo sapiens | O75436 | 32814053 | |
|
Intra
|
NDUFV2 | P19404 | FAM114A2 | Homo sapiens | Q9NRY5 | 32296183 | |
|
Intra
|
NDUFV2 | P19404 | FAM114A2 | Homo sapiens | Q9NRY5 | 32296183 | |
|
Intra
|
NDUFV2 | P19404 | FAM114A2 | Homo sapiens | Q9NRY5 | 32296183 | |
|
Intra
|
NDUFV2 | P19404 | SORL1 | Homo sapiens | Q92673 | 32814053 | |
|
Intra
|
NDUFV2 | P19404 | SORL1 | Homo sapiens | Q92673 | 32814053 | |
|
Intra
|
NDUFV2 | P19404 | SORL1 | Homo sapiens | Q92673 | 32814053 | |
|
Intra
|
NDUFV2 | P19404 | CCNC | Homo sapiens | P24863 | 33961781 | |
|
Intra
|
NDUFV2 | P19404 | CCNC | Homo sapiens | P24863 | 32296183 | |
|
Intra
|
NDUFV2 | P19404 | MAGEA2 | Homo sapiens | P43356 | 32814053 | |
|
Intra
|
NDUFV2 | P19404 | MAGEA2 | Homo sapiens | P43356 | 32814053 | |
|
Intra
|
NDUFV2 | P19404 | MAGEA2 | Homo sapiens | P43356 | 32814053 | |
|
Intra
|
NDUFV2 | P19404 | EIF2S2 | Homo sapiens | P20042 | 32814053 | |
|
Intra
|
NDUFV2 | P19404 | EIF2S2 | Homo sapiens | P20042 | 32814053 | |
|
Intra
|
NDUFV2 | P19404 | EIF2S2 | Homo sapiens | P20042 | 32814053 | |
|
Intra
|
NDUFV2 | P19404 | GOLM1 | Homo sapiens | Q8NBJ4 | 32296183 | |
|
Intra
|
NDUFV2 | P19404 | METTL27 | Homo sapiens | Q8N6F8 | 32814053 | |
|
Intra
|
NDUFV2 | P19404 | METTL27 | Homo sapiens | Q8N6F8 | 32814053 | |
|
Intra
|
NDUFV2 | P19404 | METTL27 | Homo sapiens | Q8N6F8 | 32814053 |
NDUFV2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P86984 | NDUFV2 Antibody (YA6677) | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
|
| Leigh Syndrome With Leukodystrophy |
|
|
| Encephalopathy |
|
|
| Bipolar Disorder |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Leigh Syndrome |
|
|
| Schizophrenia |
|
|
| Leukodystrophy |
|
|
| Brown-Vialetto-Van Laere Syndrome |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
|
| Myopathy |
|
|
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | NDUFV2 | VGNC | VGNC:31975 |
| Felis catus | NDUFV2 | VGNC | VGNC:80459 |
| Rattus norvegicus | NDUFV2 | RGD | RGD:621733 |
| Mus musculus | NDUFV2 | MGD | MGI:1920150 |
| Canis familiaris | NDUFV2 | VGNC | VGNC:53624 |
| Others | NDUFV2 | NCBI |