GeneBe

COQ8B

coenzyme Q8B

Basic information

Region (hg38): 19:40691514-40725784

Previous symbols: [ "ADCK4" ]

Links

ENSG00000123815 ∙ NCBI:79934 ∙ OMIM:615567 ∙ HGNC:19041 ∙ Uniprot:Q96D53 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • nephrotic syndrome, type 9 (Strong), mode of inheritance: AR
  • familial idiopathic steroid-resistant nephrotic syndrome (Supportive), mode of inheritance: AD
  • nephrotic syndrome, type 9 (Definitive), mode of inheritance: AR
  • mitochondrial disease (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Nephrotic syndrome, type 9ARBiochemical; RenalThe condition manifests as steroid-resistant nephrotic syndrome, with focal segmental glomerulosclerosis, and treatment with coenzyme Q10 has been described as beneficialRenal24270420

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the COQ8B gene.

  • not_provided (235 variants)
  • Nephrotic_syndrome,_type_9 (41 variants)
  • not_specified (28 variants)
  • COQ8B-related_disorder (16 variants)
  • Inborn_genetic_diseases (11 variants)
  • Retinitis_pigmentosa (5 variants)
  • Kidney_disorder (3 variants)
  • Nephrotic_syndrome (1 variants)
  • Focal_segmental_glomerulosclerosis (1 variants)
  • Mitochondrial_disease (1 variants)
  • See_cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the COQ8B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024876.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
54
clinvar
4
clinvar
 59
missense
4
clinvar
10
clinvar
81
clinvar
13
clinvar
1
clinvar
 109
nonsense
4
clinvar
4
clinvar
1
clinvar
 9
start loss
0
frameshift
5
clinvar
3
clinvar
1
clinvar
 9
splice donor/acceptor (+/-2bp)
5
clinvar
4
clinvar
 9
Total 18 21 84 67 5

Highest pathogenic variant AF is 0.000062812

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
COQ8Bprotein_codingprotein_codingENST00000324464 1426679
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.82e-130.2501256560921257480.000366
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8903033500.8660.00002253473
Missense in Polyphen113139.30.811191339
Synonymous1.681121370.8170.000008181123
Loss of Function1.092329.40.7820.00000148302

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007210.000720
Ashkenazi Jewish0.00009970.0000992
East Asian0.0002720.000272
Finnish0.00009760.0000924
European (Non-Finnish)0.0004140.000404
Middle Eastern0.0002720.000272
South Asian0.0005730.000555
Other0.0006640.000652

dbNSFP

Source: dbNSFP

Function
FUNCTION: Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:24270420). Its substrate specificity is unclear: does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway. Required for podocyte migration (PubMed:24270420). {ECO:0000250|UniProtKB:Q8NI60, ECO:0000269|PubMed:24270420}.;
Disease
DISEASE: Nephrotic syndrome 9 (NPHS9) [MIM:615573]: A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis. {ECO:0000269|PubMed:24270420, ECO:0000269|PubMed:25967120}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Recessive Scores

pRec
0.0981

Intolerance Scores

loftool
rvis_EVS
0.03
rvis_percentile_EVS
55.79

Haploinsufficiency Scores

pHI
0.137
hipred
N
hipred_score
0.196
ghis
0.499

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Coq8b
Phenotype

Zebrafish Information Network

Gene name
coq8b
Affected structure
podocyte
Phenotype tag
abnormal
Phenotype quality
disorganized

Gene ontology

Biological process
protein phosphorylation;ubiquinone biosynthetic process;cerebellar Purkinje cell layer morphogenesis
Cellular component
mitochondrion;cytosol;plasma membrane;integral component of membrane;extrinsic component of mitochondrial inner membrane
Molecular function
protein kinase activity;ATP binding;kinase activity