COQ8B (coenzyme Q8B)

2016-11-01  

Identity

HGNC
LOCATION
19q13.2
LOCUSID
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

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-(coenzyme-q8b)