COQ8B (coenzyme Q8B)

Gene

• Entrez ID: 79934
• Gene name: Coenzyme Q8B
• Gene symbol: COQ8B
• Synonyms (NCBI Gene): ADCK4, NPHS9
• Chromosome: 19
• Chromosome location: 19q13.2
• Summary: 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, howe

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs369573693	G>A	Pathogenic	Missense variant, coding sequence variant
rs398122978	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs398122979	T>C	Pathogenic	Coding sequence variant, missense variant
rs398122981	G>A	Pathogenic	Coding sequence variant, missense variant
rs398122982	->T	Pathogenic	Coding sequence variant, frameshift variant
rs764587648	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519345	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057519346	->CGT	Pathogenic	Coding sequence variant, inframe insertion

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IDA	27499294
GO:0004672	Function	Protein kinase activity	IDA	38425362
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	33988507
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006468	Process	Protein phosphorylation	IDA	27499294
GO:0006744	Process	Ubiquinone biosynthetic process	IBA
GO:0006744	Process	Ubiquinone biosynthetic process	IDA	38425362
GO:0006744	Process	Ubiquinone biosynthetic process	IMP	27499294
GO:0008289	Function	Lipid binding	ISS
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	ISS
GO:0021692	Process	Cerebellar Purkinje cell layer morphogenesis	IMP	27499294
GO:0031966	Component	Mitochondrial membrane	IEA

Other IDs

• MIM: 615567
• HGNC: 19041
• e!Ensembl: ENSG00000123815

Protein

• UniProt ID: Q96D53
• Protein name: Atypical kinase COQ8B, mitochondrial (EC 2.7.-.-) (AarF domain-containing protein kinase 4) (Coenzyme Q protein 8B)
• Protein 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, PubMed:36302899, PubMed:38425362). Its substrate specificity is
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03109	ABC1	197 → 313	ABC1 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, including renal podocytes. {ECO:0000269|PubMed:24270420}.
• Sequence:

  MWLKVGGLLRGTGGQLGQTVGWPCGALGPGPHRWGPCGGSWAQKFYQDGPGRGLGEEDIR
  RAREARPRKTPRPQLSDRSRERKVPASRISRLANFGGLAVGLGLGVLAEMAKKSMPGGRL
  QSEGGSGLDSSPFLSEANAERIVQTLCTVRGAALKVGQMLSIQDNSFISPQLQHIFERVR
  QSADFMPRWQMLRVLEEELGRDWQAKVASLEEVPFAAASIGQVHQGLLRDGTEVAVKIQY
  PGIAQSIQSDVQNLLAVLKMSAALPAGLFAEQSLQALQQELAWECDYRREAACAQNFRQL
  LANDPFFRVPAVVKELCTTRVLGMELAGGVPLDQCQGLSQDLRNQICFQLLTLCLRELFE
  FRFMQTDPNWANFLYDASSHQVTLLDFGASREFGTEFTDHYIEVVKAAADGDRDCVLQKS
  RDLKFLTGFETKAFSDAHVEAVMILGEPFATQGPYDFGSGETARRIQDLIPVLLRHRLCP
  PPEETYALHRKLAGAFLACAHLRAHIACRDLFQDTYHRYWASRQPDAATAGSLPTKGDSW
  VDPS

• Sequence length: 544

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Lung cancer	Likely pathogenic	rs1201048143	RCV005935026	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome, type 9	Likely pathogenic; Pathogenic	rs759259550, rs759968901, rs146616224, rs754975339, rs1599922006, rs2082170216, rs781023923, rs143411357, rs1057519347, rs764587648, rs2082092886, rs2082051467, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs769834604	RCV001391127 RCV005025765 RCV004577568 RCV003153111 RCV004577588 RCV004577590 RCV005871213 RCV003988593 RCV000416385 RCV000416403 RCV001281241 RCV001281240 RCV000077753 RCV000077754 RCV000077755 RCV000077756 RCV000077757 RCV000077758 RCV000077759 RCV001270630	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COQ8B-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial disease	Conflicting classifications of pathogenicity	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOCUTANEOUS LYMPH NODE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alport Syndrome	Alport Syndrome	BEFREE	31576025		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	28550590		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	28550590	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	28337616		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28337616		★☆☆☆☆ Found in Text Mining only
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	29194833, 32859164, 35643375	Associate	★☆☆☆☆ Found in Text Mining only
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	BEFREE	30682496		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	28405841		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycosuria Renal	Renal glycosuria	Pubtator	32543055	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	25967120	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	24270414, 25967120, 28298181, 29382012, 30352687		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	25967120, 28298181, 32104996, 32543055, 33413146, 37248651	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	28298181		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	25967120, 28298181	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28337616		★☆☆☆☆ Found in Text Mining only
Medullary nephrocalcinosis	Medullary nephrocalcinosis	BEFREE	28405841		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33413146	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrosis congenital	Nephrotic syndrome	Pubtator	28204945	Associate	★☆☆☆☆ Found in Text Mining only
Nephrosis, congenital	Nephrosis, Congenital	BEFREE	28204945		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	24270414		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	25967120, 28204945, 28298181, 29194833, 32489187, 32543055, 34172776	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	24270420		★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, TYPE 9	Nephrotic Syndrome	CLINVAR_DG	24270420		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHROTIC SYNDROME, TYPE 9	Nephrotic Syndrome	GENOMICS_ENGLAND_DG	24270420		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHROTIC SYNDROME, TYPE 9	Nephrotic Syndrome	UNIPROT_DG	24270420, 25967120		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHROTIC SYNDROME, TYPE 9	Nephrotic Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23464471	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	30778115		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	25967120, 28298181, 32543055, 33413146	Associate	★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	25967120, 28298181, 28337616, 30352687		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	25967120		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	25967120	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Seizures	Seizures	Pubtator	25967120	Associate	★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	24270414, 24270420, 25091424, 25967120, 28204945, 28337616, 28405841, 29194833		★☆☆☆☆ Found in Text Mining only