COQ8B (coenzyme Q8B)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79934
Gene name Gene Name - the full gene name approved by the HGNC.
Coenzyme Q8B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COQ8B
Synonyms (NCBI Gene) Gene synonyms aliases
ADCK4, NPHS9
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615567 19041 ENSG00000123815
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Nephrotic Syndrome nephrotic syndrome, type 9 rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs1057519347, rs764587648 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Retinitis Pigmentosa retinitis pigmentosa N/A N/A ClinVar
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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