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	56997
Gene name	Coenzyme Q8A
Gene symbol	COQ8A
Synonyms (NCBI Gene)	ADCK3ARCA2CABC1COQ10D4COQ8SCAR9
Chromosome	1
Chromosome location	1q42.13
Summary	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

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

385

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive ataxia due to ubiquinone deficiency	Pathogenic; Likely pathogenic	rs754586499, rs1229054489, rs1433323183, rs1474965033, rs1553281318, rs119468005, rs119468006, rs387906298, rs606231138, rs606231139, rs119468008, rs387906299, rs797045217, rs578189699, rs764847439 View all (32 more)	RCV001647227 RCV001647226 RCV001647228 RCV002272750 RCV000985120 RCV000003822 RCV000003823 RCV000003824 RCV000003825 RCV000003826 RCV000003827 RCV000003828 RCV000003829 RCV000193346 RCV000194388 RCV000416393 RCV000416404 RCV003152697 RCV000778972 RCV000490281 RCV002810029 RCV003143777 RCV004765775 RCV004563297 RCV003326710 RCV003326712 RCV003486311 RCV003985714 RCV003989408 RCV004527522 RCV004595155 RCV000416388 RCV000416409 RCV000416402 RCV000416410 RCV001782903 RCV000515534 RCV006254052 RCV000500136 RCV000515538 RCV000626223 RCV001824848 RCV000824898 RCV000824890 RCV000986560 RCV000995683 RCV000995685 RCV001249827 RCV001291993
Cerebellar ataxia	Likely pathogenic	rs959109094	RCV001541908
Coenzyme Q10 deficiency, primary, 1	Likely pathogenic	rs1558212305, rs1658479678	RCV000721972 RCV001195421
COQ8A-related disorder	Likely pathogenic; Pathogenic	rs1194024312, rs1473126291	RCV003404295 RCV003414461
Familial cancer of breast	Likely pathogenic; Pathogenic	rs199874519	RCV005893880
Global developmental delay	Pathogenic	rs753254213	RCV001527640
Hepatocellular carcinoma	Likely pathogenic	rs1194024312	RCV005932768
Mitochondrial disease	Likely pathogenic; Pathogenic	rs755933881, rs1572079834	RCV000852404 RCV000852403
Possible mitochondrial disorder - nuclear genes	Likely pathogenic; Pathogenic	rs387906299, rs753254213	RCV005865084 RCV006249375
See cases	Likely pathogenic	rs1659926175	RCV001196659

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of the nervous system	Conflicting classifications of pathogenicity	rs119468004	RCV001813945
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs2297411	RCV005890556
Autosomal recessive cerebellar ataxia	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs11549708, rs3738725, rs2297411, rs111529228, rs145688619, rs76249490, rs376462712, rs760566419, rs778729725, rs886046074, rs12565212, rs557786445, rs376347405, rs752409331, rs7552783 View all (18 more)	RCV000379956 RCV000363761 RCV000376358 RCV000306902 RCV000273457 RCV000285618 RCV000379708 RCV000367533 RCV000288375 RCV000361065 RCV000382400 RCV000309422 RCV000406547 RCV000260642 RCV000406694 RCV000282981 RCV000356082 RCV000277126 RCV000268092 RCV000292287 RCV000330187 RCV000379764 RCV000267417 RCV000360479 RCV000281570 RCV000364964 RCV000391966 RCV000371236 RCV000313029 RCV000316763 RCV000328000 RCV000385912 RCV000346994
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs2297411, rs367945973, rs76213739	RCV005890557 RCV005924090 RCV005905608
Cholangiocarcinoma	Benign; Likely benign	rs377335668, rs2297411, rs146526153, rs76213739	RCV005921807 RCV005890561 RCV005893484 RCV005905611
Coenzyme Q10 deficiency	Benign; Likely benign	rs41303129	RCV003993734
Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs12593, rs11549709, rs137872711, rs55958233, rs376462712, rs56043893, rs886046065, rs886046066, rs147097934, rs886046069, rs548257684, rs557786445, rs181579601, rs552968994, rs145779574 View all (16 more)	RCV000373810 RCV000279311 RCV000406334 RCV000402436 RCV000264140 RCV000372202 RCV000383099 RCV000338891 RCV000329143 RCV000397043 RCV000343597 RCV000396863 RCV000354907 RCV000376640 RCV000325434 RCV000332116 RCV000343650 RCV000270741 RCV000322865 RCV000324404 RCV000292343 RCV000403943 RCV000334300 RCV000303095 RCV000271765 RCV000404194 RCV000262296 RCV000355080 RCV000303981 RCV000333606 RCV000292165
Gastric cancer	Benign; Likely benign	rs2297411	RCV005890559
Joubert syndrome 17	Benign; Likely benign	rs41303129	RCV001258271
Lung cancer	Benign; Likely benign	rs2297411	RCV005890562
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	rs2297411, rs146526153, rs199619932	RCV005890555 RCV005893483 RCV005900935
Melanoma	Benign; Likely benign	rs377335668, rs149048093	RCV005921806 RCV005903088
Nonpapillary renal cell carcinoma	Benign; Uncertain significance	rs1574185, rs541836846	RCV005916074 RCV005898121
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs531785041, rs377335668, rs2297411, rs76213739	RCV005919034 RCV005921805 RCV005890560 RCV005905610
Sarcoma	Benign; Likely benign	rs377335668, rs2297411, rs76213739	RCV005921804 RCV005890558 RCV005905609
Uterine carcinosarcoma	Benign	rs1574185	RCV005916075
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs2297411, rs76213739	RCV005890563 RCV005905612
Uveal melanoma	Likely benign; Benign	rs531785041, rs377335668	RCV005919033 RCV005921803

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)