NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4)

2012-08-01  

Identity

HGNC
NDUFS4
LOCATION
5q11.2
LOCUSID
4724
ALIAS
AQDQ,CI-18,CI-18
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4724
MIM: 602694
HGNC: 7711
Ensembl: ENSG00000164258

Variants:

dbSNP: 4724
ClinVar: 4724
TCGA: ENSG00000164258
COSMIC: NDUFS4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164258ENST00000296684O43181
ENSG00000164258ENST00000296684A0A0S2Z433
ENSG00000164258ENST00000502423D6R916
ENSG00000164258ENST00000506765H0Y9M8
ENSG00000164258ENST00000506974D6RI09
ENSG00000164258ENST00000507026D6REP1

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
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
382666472024Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle.2
382666472024Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle.2
348495842022Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.25
348495842022Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.25
323350262020NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2.22
330930042020Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation.6
323350262020NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2.22
330930042020Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation.6
312060222019BAP31 regulates mitochondrial function via interaction with Tom40 within ER-mitochondria contact sites.58
312060222019BAP31 regulates mitochondrial function via interaction with Tom40 within ER-mitochondria contact sites.58
276719262017A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.9
276719262017A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.9
270793732016Ndufs4 related Leigh syndrome: A case report and review of the literature.26
270793732016Ndufs4 related Leigh syndrome: A case report and review of the literature.26
240206372014Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.1

Citation

Dessen P

NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4)

Atlas Genet Cytogenet Oncol Haematol. 2012-08-01

Online version: http://atlasgeneticsoncology.org/gene/52822