COQ4 (coenzyme Q4)

2014-11-01  

Identity

HGNC
COQ4
LOCATION
9q34.11
LOCUSID
51117
ALIAS
CGI-92,COQ10D7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51117
MIM: 612898
HGNC: 19693
Ensembl: ENSG00000167113

Variants:

dbSNP: 51117
ClinVar: 51117
TCGA: ENSG00000167113
COSMIC: COQ4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167113ENST00000300452Q9Y3A0
ENSG00000167113ENST00000372875Q5T4B9
ENSG00000167113ENST00000608951V9GY32
ENSG00000167113ENST00000609948V9GZ09

Expression (GTEx)

0
10
20
30
40
50
60
70
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

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
267955932016Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.77
223683012012Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.36
114697932001Yeast COQ4 encodes a mitochondrial protein required for coenzyme Q synthesis.29
184742292008Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.19
256580472015COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
261851442015Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.8
284650932017Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene.2
306592642019Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome.1

Citation

Dessen P

COQ4 (coenzyme Q4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62026/coq4