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

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	56997
Gene name Gene Name - the full gene name approved by the HGNC.	Coenzyme Q8A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	COQ8A
Synonyms (NCBI Gene) Gene synonyms aliases	ADCK3, ARCA2, CABC1, COQ10D4, COQ8, SCAR9
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q42.13
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced

Show/Hide all(54)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74589348	C>G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs119468004	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs119468005	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs119468006	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs119468008	A>G	Pathogenic	Missense variant, coding sequence variant
rs119468009	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs140246430	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs141725964	C>G,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs145034527	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs150243147	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199874519	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs201618750	C>A,T	Likely-pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs201908721	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs369502091	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs373971613	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs376478331	G>A,C,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs387906298	->G	Pathogenic	Coding sequence variant, frameshift variant
rs387906299	ACC>-	Pathogenic	Coding sequence variant, inframe deletion
rs578189699	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs606231138	T>C	Pathogenic	Splice donor variant
rs606231139	AATCCCCTGTTGGGGGCCTCAC>TTG	Pathogenic	Coding sequence variant, frameshift variant
rs747150601	T>A	Pathogenic	Stop gained, coding sequence variant
rs748118737	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs751637699	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs752130338	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs753254213	C>T	Pathogenic	Coding sequence variant, stop gained
rs755933881	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs760327691	AGGTGAGCCCCAGGGTGGGGGCA>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs763311061	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs764847439	GGG>-,GG,GGGG	Pathogenic, uncertain-significance	Frameshift variant, inframe deletion, coding sequence variant
rs765966679	G>A,T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs767406263	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs767584322	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs771578775	C>T	Pathogenic	Stop gained, coding sequence variant
rs772127266	->A	Pathogenic	Coding sequence variant, frameshift variant
rs781518112	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs797045217	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223884	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs863223887	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs886042265	GGCTGGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs974677376	G>A	Pathogenic	Splice donor variant
rs1057519343	T>C	Pathogenic	Missense variant, coding sequence variant
rs1057519344	->GTA	Pathogenic	Coding sequence variant, splice acceptor variant
rs1085307053	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1085307497	AA>C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1271428051	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553276474	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553276966	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553280621	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553281318	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1558212305	->G	Likely-pathogenic	3 prime UTR variant
rs1572040505	C>T	Pathogenic	Coding sequence variant, stop gained
rs1572079834	GG>CA	Likely-pathogenic	Coding sequence variant, missense variant
rs1572081759	A>G	Likely-pathogenic	Splice acceptor variant

Show/Hide all(22)

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	ISS
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 25910212, 27499296, 31515488, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	25498144, 33988507
GO:0005739	Component	Mitochondrion	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	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	IMP	25498144, 27499294
GO:0008047	Function	Enzyme activator activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IDA	25498144, 27499294
GO:0016301	Function	Kinase activity	IEA
GO:0016310	Process	Phosphorylation	IDA	25498144, 27499294
GO:0016740	Function	Transferase activity	IEA
GO:0031314	Component	Extrinsic component of mitochondrial inner membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0043531	Function	ADP binding	IDA	25498144

MIM	HGNC	e!Ensembl
606980	16812	ENSG00000163050

Protein

UniProt ID

Q8NI60

Protein name

Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) (Chaperone activity of bc1 complex-like) (Chaperone-ABC1-like) (Coenzyme Q protein 8A) (aarF domain-containing protein kinase 3)

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:21296186, PubMed:25498144, PubMed:25540914, PubMed:27499294, PubMed:36302

PDB

4PED , 5I35 , 7UDP , 7UDQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03109	ABC1	318 → 434	ABC1 family	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest levels in adrenal gland, heart, pancreas, nasal mucosa, stomach, uterus and skeletal muscle. {ECO:0000269|PubMed:24270420}.

Sequence

MAAILGDTIMVAKGLVKLTQAAVETHLQHLGIGGELIMAARALQSTAVEQIGMFLGKVQG
QDKHEEYFAENFGGPEGEFHFSVPHAAGASTDFSSASAPDQSAPPSLGHAHSEGPAPAYV
ASGPFREAGFPGQASSPLGRANGRLFANPRDSFSAMGFQRRFFHQDQSPVGGLTAEDIEK
ARQAKARPENKQHKQTLSEHARERKVPVTRIGRLANFGGLAVGLGFGALAEVAKKSLRSE
DPSGKKAVLGSSPFLSEANAERIVRTLCKVRGAALKLGQMLSIQDDAFINPHLAKIFERV
RQSADFMPLKQMMKTLNNDLGPNWRDKLEYFEERPFAAASIGQVHLARMKGGREVAMKIQ
YPGVAQSINSDVNNLMAVLNMSNMLPEGLFPEHLIDVLRRELALECDYQREAACARKFRD
LLKGHPFFYVPEIVDELCSPHVLTTELVSGFPLDQAEGLSQEIRNEICYNILVLCLRELF
EFHFMQTDPNWSNFFYDPQQHKVALLDFGATREYDRSFTDLYIQIIRAAADRDRETVRAK
SIEMKFLTGYEVKVMEDAHLDAILILGEAFASDEPFDFGTQSTTEKIHNLIPVMLRHRLV
PPPEETYSLHRKMGGSFLICSKLKARFPCKAMFEEAYSNYCKRQAQQ

Sequence length

647

Interactions

View interactions

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Ataxia	autosomal recessive ataxia due to ubiquinone deficiency	rs764847439, rs748118737, rs119468005, rs1271428051, rs771578775, rs781518112, rs119468006, rs1572040505, rs767406263, rs387906298, rs755933881, rs140246430, rs1659738028, rs606231138, rs199874519 View all (17 more)	N/A
Coenzyme Q10 deficiency	coenzyme q10 deficiency, primary, 1	rs1558212305	N/A
Developmental Delay	global developmental delay	rs753254213	N/A
Fatal Mitochondrial Disease	Mitochondrial disease	rs755933881, rs1572079834	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
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.
Cerebellar Ataxia	Autosomal recessive cerebellar ataxia	N/A	N/A	ClinVar
Joubert Syndrome	joubert syndrome 17	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anorchia	Associate	35275351
Aphasia Broca	Associate	24164873
Ataxia	Associate	21873089, 24164873, 26866375, 29915382, 32337771
Ataxia Telangiectasia Like Disorder	Associate	29915382
Cerebellar Ataxia	Associate	18319072, 24218524, 25216398, 26818466, 32743982, 34663476
Cerebellar Diseases	Associate	18319072, 24164873, 35275351
Coenzyme Q10 Deficiency	Associate	18319072, 24164873, 24218524, 25216398, 26818466, 32743982
Coenzyme Q10 Deficiency	Stimulate	19096106, 32830305
Cognition Disorders	Associate	32337771
Dementia	Associate	36421848
Dystonic Disorders	Associate	32830305
Endometrial Neoplasms	Associate	37402867
Epilepsia Partialis Continua	Associate	35275351
Neoplasms	Associate	37402867
Nephrotic Syndrome	Associate	35275351
Neurologic Manifestations	Associate	18319072
Respiratory System Abnormalities	Associate	37392700
Scoliosis	Associate	32743982
Seizures	Associate	18319072, 21873089, 35275351
Spinocerebellar Ataxia Autosomal Recessive 9	Associate	24164873, 26866375
Spinocerebellar Ataxias	Associate	35275351
Spinocerebellar Degenerations	Associate	21873089
Stroke	Associate	24164873
Uniparental Disomy	Associate	34663476
Vacuolar myopathy	Associate	21873089

COQ8A (coenzyme Q8A)