| Name | coenzyme Q8B |
| Description | This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n COQ8B (also known as ADCK4) is a mitochondrial protein that plays a critical role in the biosynthesis of coenzyme Q10 (CoQ10), an essential lipid‐soluble electron carrier and antioxidant within the respiratory chain. Although its name once suggested canonical protein kinase activity, current evidence indicates that COQ8B instead exhibits atypical functions—possibly operating as an ATPase—that facilitate the stabilization and/or assembly of the multiprotein complex (or “CoQ synthome”) required for efficient CoQ10 production."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In glomerular podocytes, COQ8B localizes predominantly to the mitochondrial matrix and interacts with other CoQ10 biosynthetic proteins (such as COQ6), thereby maintaining mitochondrial integrity and cellular energy metabolism. Disruption of COQ8B function by pathogenic mutations leads to reduced CoQ10 levels, impaired mitochondrial respiratory enzyme activity, and altered mitochondrial morphology; these defects underlie the development of steroid‐resistant nephrotic syndrome (SRNS) and focal segmental glomerulosclerosis (FSGS) that are frequently observed in affected patients."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, the observation that early CoQ10 supplementation can ameliorate podocyte dysfunction and slow renal disease progression underscores both the biological importance of COQ8B in mitochondrial and kidney cell homeostasis and its emerging relevance as a therapeutic target in COQ8B‐associated glomerulopathy."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Shazia Ashraf, Heon Yung Gee, Stephanie Woerner, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI69000"}], "href": "https://doi.org/10.1172/JCI69000"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24270420"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24270420"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Luis Vazquez Fonseca, Mara Doimo, Cristina Calderan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.23376"}], "href": "https://doi.org/10.1002/humu.23376"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29194833"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29194833"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Eujin Park, Hee Gyung Kang, Young Hun Choi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Nephrol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00467-017-3657-9"}], "href": "https://doi.org/10.1007/s00467-017-3657-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28405841"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28405841"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Shu-Bo Zhai, Li Zhang, Bai-Chao Sun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Nephrol (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12882-020-02038-7"}], "href": "https://doi.org/10.1186/s12882-020-02038-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32957916"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32957916"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Xiaoxiang Song, Xiaoyan Fang, Xiaoshan Tang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "COQ8B nephropathy: Early detection and optimal treatment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Genomic Med (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mgg3.1360"}], "href": "https://doi.org/10.1002/mgg3.1360"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32543055"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32543055"}]}]}]}
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| NCBI Gene ID | 79934 |
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| Expression in Tissues and Cell Lines |
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COQ8B has 1,920 functional associations with biological entities spanning 6 categories (chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 41 datasets.
Click the + buttons to view associations for COQ8B from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of COQ8B gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of COQ8B gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CCLE Cell Line Proteomics | Cell lines associated with COQ8B protein from the CCLE Cell Line Proteomics dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with COQ8B gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of COQ8B gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with COQ8B gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI U2OS Cell Map Protein Localization Assemblies | assemblies containing COQ8B protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing COQ8B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing COQ8B protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with COQ8B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by COQ8B gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving COQ8B gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with COQ8B gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with COQ8B gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with COQ8B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with COQ8B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving COQ8B gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving COQ8B gene from the curated GO Biological Process Annotations2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of COQ8B gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of COQ8B gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with COQ8B gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by COQ8B gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of COQ8B gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of COQ8B gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of COQ8B gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by COQ8B gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of COQ8B gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving COQ8B protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving COQ8B protein from the Wikipathways PFOCR 2024 dataset. | |
| Reactome Pathways 2024 | pathways involving COQ8B protein from the Reactome Pathways 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of COQ8B gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of COQ8B gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of COQ8B gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of COQ8B gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sanger Dependency Map Cancer Cell Line Proteomics | cell lines associated with COQ8B protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of COQ8B gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of COQ8B gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of COQ8B protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of COQ8B protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with COQ8B protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving COQ8B protein from the WikiPathways Pathways 2024 dataset. | |
