Identity
HGNC
LOCATION
18p11.22
LOCUSID
ALIAS
CI-24k,MC1DN7
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4729
MIM: 600532
HGNC: 7717
Ensembl: ENSG00000178127
Variants:
dbSNP: 4729
ClinVar: 4729
TCGA: ENSG00000178127
COSMIC: NDUFV2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000178127 | ENST00000318388 | P19404 |
| ENSG00000178127 | ENST00000400033 | E7EPT4 |
| ENSG00000178127 | ENST00000497577 | J3QS34 |
| ENSG00000178127 | ENST00000577703 | J3KRB4 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33811136 | 2022 | Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy. | 2 |
| 36309697 | 2022 | Association between single-nucleotide polymorphism rs145497186 related to NDUFV2 and lumbar disc degeneration: a pilot case-control study. | 0 |
| 33811136 | 2022 | Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy. | 2 |
| 36309697 | 2022 | Association between single-nucleotide polymorphism rs145497186 related to NDUFV2 and lumbar disc degeneration: a pilot case-control study. | 0 |
| 34124242 | 2021 | Identifying Mitochondrial-Related Genes NDUFA10 and NDUFV2 as Prognostic Markers for Prostate Cancer through Biclustering. | 3 |
| 34405929 | 2021 | Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2. | 2 |
| 34697471 | 2021 | Sex-specific genetic regulation of adipose mitochondria and metabolic syndrome by Ndufv2. | 24 |
| 34124242 | 2021 | Identifying Mitochondrial-Related Genes NDUFA10 and NDUFV2 as Prognostic Markers for Prostate Cancer through Biclustering. | 3 |
| 34405929 | 2021 | Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2. | 2 |
| 34697471 | 2021 | Sex-specific genetic regulation of adipose mitochondria and metabolic syndrome by Ndufv2. | 24 |
| 30531937 | 2020 | NDUFV2 pseudogene (NDUFV2P1) contributes to mitochondrial complex I deficits in schizophrenia. | 13 |
| 30531937 | 2020 | NDUFV2 pseudogene (NDUFV2P1) contributes to mitochondrial complex I deficits in schizophrenia. | 13 |
| 26544616 | 2016 | A haplotype in the 5'-upstream region of the NDUFV2 gene is associated with major depressive disorder in Han Chinese. | 8 |
| 26544616 | 2016 | A haplotype in the 5'-upstream region of the NDUFV2 gene is associated with major depressive disorder in Han Chinese. | 8 |
| 26008862 | 2015 | Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. | 13 |
Citation
Dessen P
NDUFV2 (NADH:ubiquinone oxidoreductase core subunit V2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70788/ndufv2-(nadh-ubiquinone-oxidoreductase-core-subunit-v2)
