COQ6 (coenzyme Q6, monooxygenase)

2014-11-01  

Identity

HGNC
COQ6
LOCATION
14q24.3
LOCUSID
51004
ALIAS
CGI-10,CGI10,COQ10D6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51004
MIM: 614647
HGNC: 20233
Ensembl: ENSG00000119723

Variants:

dbSNP: 51004
ClinVar: 51004
TCGA: ENSG00000119723
COSMIC: COQ6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119723ENST00000334571Q9Y2Z9
ENSG00000119723ENST00000394026Q9Y2Z9
ENSG00000119723ENST00000554320G3V3A1
ENSG00000119723ENST00000554341G3V2L5
ENSG00000119723ENST00000554920G3V434
ENSG00000119723ENST00000555196G3V3L0
ENSG00000119723ENST00000557584G3V4A6
ENSG00000119723ENST00000629426A0A0D9SFJ1

Expression (GTEx)

0
5
10
15
20
25
30
35
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
Ubiquinone and other terpenoid-quinone biosynthesisKEGGko00130
Ubiquinone and other terpenoid-quinone biosynthesisKEGGhsa00130
Metabolic pathwaysKEGGhsa01100
Ubiquinone biosynthesis, eukaryotes, 4-hydroxybenzoate => ubiquinoneKEGGM00128
Ubiquinone biosynthesis, eukaryotes, 4-hydroxybenzoate => ubiquinoneKEGGhsa_M00128
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Ubiquinol biosynthesisREACTOMER-HSA-2142789

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
215405512011COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.125
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
281172072017COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss.10
280443272017Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.6
247632912014A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis.2

Citation

Dessen P

COQ6 (coenzyme Q6, monooxygenase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62028/coq6