COX18 (cytochrome c oxidase assembly factor COX18)

2014-08-01  

Identity

HGNC
COX18
LOCATION
4q13.3
LOCUSID
285521
ALIAS
COX18HS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 285521
MIM: 610428
HGNC: 26801
Ensembl: ENSG00000163626

Variants:

dbSNP: 285521
ClinVar: 285521
TCGA: ENSG00000163626
COSMIC: COX18

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163626ENST00000295890Q8N8Q8
ENSG00000163626ENST00000449739Q8N8Q8
ENSG00000163626ENST00000507544B7ZL88
ENSG00000163626ENST00000510031Q8N8Q8

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
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
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Metabolic GenesREACTOMER-HSA-5628897
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

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
374685772023A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.4
374685772023A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.4
283308712017Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module.38
283308712017Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module.38
202009532010Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study.27
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208197782010MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.26
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
202009532010Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study.27
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208197782010MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.26
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
193732562009Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.4
193732562009Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.4
162129372005hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly.15

Citation

Dessen P

COX18 (cytochrome c oxidase assembly factor COX18)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54231/img/cancer-prone-explorer/js/lib/all.min.js