Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79934
MIM: 615567
HGNC: 19041
Ensembl: ENSG00000123815
Variants:
dbSNP: 79934
ClinVar: 79934
TCGA: ENSG00000123815
COSMIC: COQ8B
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA164712817 | Immunoglobulins | Chemical | VariantAnnotation | associated | PD | 21987091 | |
| PA444977 | Mucocutaneous Lymph Node Syndrome | Disease | VariantAnnotation | associated | PD | 21987091 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33084234 | 2021 | The role of novel COQ8B mutations in glomerulopathy and related kidney defects. | 2 |
| 34172776 | 2021 | Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome. | 2 |
| 33084234 | 2021 | The role of novel COQ8B mutations in glomerulopathy and related kidney defects. | 2 |
| 34172776 | 2021 | Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome. | 2 |
| 32489187 | 2020 | Absence of Long Noncoding RNA H19 Promotes Childhood Nephrotic Syndrome through Inhibiting ADCK4 Signal. | 1 |
| 33033902 | 2020 | Transcription factor Kruppel-like factor 5 positively regulates the expression of AarF domain containing kinase 4. | 2 |
| 32489187 | 2020 | Absence of Long Noncoding RNA H19 Promotes Childhood Nephrotic Syndrome through Inhibiting ADCK4 Signal. | 1 |
| 33033902 | 2020 | Transcription factor Kruppel-like factor 5 positively regulates the expression of AarF domain containing kinase 4. | 2 |
| 29194833 | 2018 | Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function. | 22 |
| 30352687 | 2018 | A novel ADCK4 mutation in a Chinese family with ADCK4-Associated glomerulopathy. | 9 |
| 29194833 | 2018 | Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function. | 22 |
| 30352687 | 2018 | A novel ADCK4 mutation in a Chinese family with ADCK4-Associated glomerulopathy. | 9 |
| 28405841 | 2017 | Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations. | 17 |
| 28405841 | 2017 | Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations. | 17 |
| 24270420 | 2013 | ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. | 165 |
Citation
Dessen P
COQ8B (coenzyme Q8B)
Atlas Genet Cytogenet Oncol Haematol. 2016-11-01
Online version: http://atlasgeneticsoncology.org/gene/78786/coq8b-(coenzyme-q8b)
