Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	79934
Gene name	Coenzyme Q8B
Gene symbol	COQ8B
Synonyms (NCBI Gene)	ADCK4NPHS9
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

Show/Hide all (8)

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

Show/Hide all (21)

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

MIM	HGNC	e!Ensembl
615567	19041	ENSG00000123815

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

Interactions

View interactions

104

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Lung cancer	Likely pathogenic	rs1201048143	RCV005935026
Nephrotic syndrome, type 9	Likely pathogenic; Pathogenic	rs759259550, rs759968901, rs146616224, rs754975339, rs1599922006, rs2082170216, rs781023923, rs143411357, rs1057519347, rs764587648, rs2082092886, rs2082051467, rs398122978, rs398122979, rs398122980 View all (5 more)	RCV001391127 RCV005025765 RCV004577568 RCV003153111 RCV004577588 RCV004577590 RCV005871213 RCV003988593 RCV000416385 RCV000416403 RCV001281241 RCV001281240 RCV000077753 RCV000077754 RCV000077755 RCV000077756 RCV000077757 RCV000077758 RCV000077759 RCV001270630
See cases	Likely pathogenic; Pathogenic	rs759968901	RCV004584531

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs78137400	RCV005896692
Cervical cancer	Conflicting classifications of pathogenicity	rs200061712	RCV005904654
COQ8B-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs146225943, rs1424180100, rs192920652, rs55973839, rs766618659, rs150264062, rs201537185, rs144343899, rs113358395, rs760835229, rs148374624, rs113871093, rs200061712, rs61746183, rs376627440, rs77801349 View all (1 more)	RCV003948584 RCV003397286 RCV004738812 RCV003934672 RCV003947177 RCV003927990 RCV003945479 RCV003918112 RCV003918113 RCV003955548 RCV003930690 RCV003940754 RCV003930689 RCV003978026 RCV003933082 RCV003913119
Focal segmental glomerulosclerosis	Uncertain significance	rs866812916	RCV001328146
Kidney disorder	Benign; Likely benign	rs36012476, rs56276635, rs78137400, rs56056214, rs4803357, rs11538384	RCV002294329 RCV002294331 RCV002294334 RCV002294328 RCV002294332 RCV002294330
Malignant tumor of esophagus	Benign	rs78137400	RCV005896693
Mitochondrial disease	Conflicting classifications of pathogenicity	rs750037594	RCV005363122
Nephrotic syndrome	Conflicting classifications of pathogenicity	rs769834604	RCV001328147
Ovarian serous cystadenocarcinoma	Benign	rs78137400	RCV005896695
Retinitis pigmentosa	Conflicting classifications of pathogenicity; Benign; Likely benign	rs763929551, rs369205319, rs113358395	RCV004690513 RCV004689812 RCV004689850
Sarcoma	Benign	rs78137400	RCV005896694
Squamous cell carcinoma of the head and neck	Uncertain significance	rs766618659	RCV005933272
Thymoma	Benign	rs78137400	RCV005896697
Uterine carcinosarcoma	Benign	rs78137400	RCV005896696
Uterine corpus endometrial carcinoma	Benign	rs78137400	RCV005896699

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aortic Aneurysm Familial Thoracic 1	Associate	28550590
Aortic Aneurysm Thoracic	Associate	28550590
Chronic Kidney Disease Mineral and Bone Disorder	Associate	25967120
Coenzyme Q10 Deficiency	Associate	29194833, 32859164, 35643375
Glycosuria Renal	Associate	32543055
Intellectual Disability	Associate	25967120
Kidney Diseases	Associate	25967120, 28298181, 32104996, 32543055, 33413146, 37248651
Kidney Failure Chronic	Associate	25967120, 28298181
Mitochondrial Diseases	Associate	33413146
Muscular dystrophy congenital with central nervous system involvement	Associate	29194833
Nephrosis congenital	Associate	28204945
Nephrotic Syndrome	Associate	25967120, 28204945, 28298181, 29194833, 32489187, 32543055, 34172776
Ovarian Neoplasms	Associate	23464471
Proteinuria	Associate	25967120, 28298181, 32543055, 33413146
Renal Insufficiency	Associate	28298181, 34172776
Renal Insufficiency Chronic	Associate	32104996, 32543055
Retinitis Pigmentosa	Associate	25967120
Seizures	Associate	25967120

COQ8B (coenzyme Q8B)