COQ8B (coenzyme Q8B)

2016-11-01  

Identity

HGNC
COQ8B
LOCATION
19q13.2
LOCUSID
79934
ALIAS
ADCK4,NPHS9

Other Information

Locus ID:

NCBI: 79934
MIM: 615567
HGNC: 19041
Ensembl: ENSG00000123815

Variants:

dbSNP: 79934
ClinVar: 79934
TCGA: ENSG00000123815
COSMIC: COQ8B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123815ENST00000243583Q96D53
ENSG00000123815ENST00000243583A0A024R0Q9
ENSG00000123815ENST00000324464Q96D53
ENSG00000123815ENST00000593723A0A0G2JLJ7
ENSG00000123815ENST00000594084M0R3F7
ENSG00000123815ENST00000594490M0R0L2
ENSG00000123815ENST00000594720M0QZZ2
ENSG00000123815ENST00000595254M0R001
ENSG00000123815ENST00000596357M0R307
ENSG00000123815ENST00000599643M0R0F4
ENSG00000123815ENST00000600080M0R362
ENSG00000123815ENST00000600707M0R340
ENSG00000123815ENST00000601304M0R2F4
ENSG00000123815ENST00000601967M0R011

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164712817ImmunoglobulinsChemicalVariantAnnotationassociatedPD21987091
PA444977Mucocutaneous Lymph Node SyndromeDiseaseVariantAnnotationassociatedPD21987091

References

Pubmed IDYearTitleCitations
242704202013ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.109
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
291948332018Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.10
284058412017Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations.8
303526872018A novel ADCK4 mutation in a Chinese family with ADCK4-Associated glomerulopathy.2

Citation

Dessen P

COQ8B (coenzyme Q8B)

Atlas Genet Cytogenet Oncol Haematol. 2016-11-01

Online version: http://atlasgeneticsoncology.org/gene/78786/coq8b