COQ7 (coenzyme Q7, hydroxylase)

2014-11-01  

Identity

HGNC
COQ7
LOCATION
16p12.3
LOCUSID
10229
ALIAS
CAT5,CLK-1,CLK1,COQ10D8

Other Information

Locus ID:

NCBI: 10229
MIM: 601683
HGNC: 2244
Ensembl: ENSG00000167186

Variants:

dbSNP: 10229
ClinVar: 10229
TCGA: ENSG00000167186
COSMIC: COQ7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167186ENST00000321998Q99807
ENSG00000167186ENST00000544894Q99807
ENSG00000167186ENST00000561858H3BTN8
ENSG00000167186ENST00000566049H3BS11
ENSG00000167186ENST00000566110H3BSZ3
ENSG00000167186ENST00000568985Q99807
ENSG00000167186ENST00000569127H3BP28
ENSG00000167186ENST00000569312I3L1T0

Expression (GTEx)

0
5
10
15
20
25
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
368549322023A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population.4
371706312023Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.4
373927002023Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ(10) deficiency: Hypomorphic variants and two distinct disease entities.4
368549322023A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population.4
371706312023Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.4
373927002023Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ(10) deficiency: Hypomorphic variants and two distinct disease entities.4
342440372022Association of ITPKB, IL1R2 and COQ7 with Parkinson's disease in Taiwan.1
363067962022Structure and functionality of a multimeric human COQ7:COQ9 complex.13
342440372022Association of ITPKB, IL1R2 and COQ7 with Parkinson's disease in Taiwan.1
363067962022Structure and functionality of a multimeric human COQ7:COQ9 complex.13
332158592021Clinical spectrum in multiple families with primary COQ(10) deficiency.10
332158592021Clinical spectrum in multiple families with primary COQ(10) deficiency.10
284099102017Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.36
284099102017Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.36
253394432014Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis.64

Citation

Dessen P

COQ7 (coenzyme Q7, hydroxylase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62029/gene-explorer/css/card-gene.css