NDUFV2 (NADH:ubiquinone oxidoreductase core subunit V2)

2014-11-01  

Identity

HGNC
NDUFV2
LOCATION
18p11.22
LOCUSID
4729
ALIAS
CI-24k,MC1DN7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4729
MIM: 600532
HGNC: 7717
Ensembl: ENSG00000178127

Variants:

dbSNP: 4729
ClinVar: 4729
TCGA: ENSG00000178127
COSMIC: NDUFV2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178127ENST00000318388P19404
ENSG00000178127ENST00000400033E7EPT4
ENSG00000178127ENST00000497577J3QS34
ENSG00000178127ENST00000577703J3KRB4

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Alzheimer's diseaseKEGGko05010
Huntington's diseaseKEGGko05016
Oxidative phosphorylationKEGGhsa00190
Alzheimer's diseaseKEGGhsa05010
Parkinson's diseaseKEGGhsa05012
Huntington's diseaseKEGGhsa05016
Metabolic pathwaysKEGGhsa01100
NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondriaKEGGhsa_M00143
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondriaKEGGM00143
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105
Complex I biogenesisREACTOMER-HSA-6799198

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
338111362022Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.2
363096972022Association between single-nucleotide polymorphism rs145497186 related to NDUFV2 and lumbar disc degeneration: a pilot case-control study.0
338111362022Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.2
363096972022Association between single-nucleotide polymorphism rs145497186 related to NDUFV2 and lumbar disc degeneration: a pilot case-control study.0
341242422021Identifying Mitochondrial-Related Genes NDUFA10 and NDUFV2 as Prognostic Markers for Prostate Cancer through Biclustering.3
344059292021Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2.2
346974712021Sex-specific genetic regulation of adipose mitochondria and metabolic syndrome by Ndufv2.24
341242422021Identifying Mitochondrial-Related Genes NDUFA10 and NDUFV2 as Prognostic Markers for Prostate Cancer through Biclustering.3
344059292021Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2.2
346974712021Sex-specific genetic regulation of adipose mitochondria and metabolic syndrome by Ndufv2.24
305319372020NDUFV2 pseudogene (NDUFV2P1) contributes to mitochondrial complex I deficits in schizophrenia.13
305319372020NDUFV2 pseudogene (NDUFV2P1) contributes to mitochondrial complex I deficits in schizophrenia.13
265446162016A haplotype in the 5'-upstream region of the NDUFV2 gene is associated with major depressive disorder in Han Chinese.8
265446162016A haplotype in the 5'-upstream region of the NDUFV2 gene is associated with major depressive disorder in Han Chinese.8
260088622015Exome 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/tumors-explorer/js/lib/zoomerang.js