COQ2 (coenzyme Q2, polyprenyltransferase)

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Gene: COQ2 (coenzyme Q2, polyprenyltransferase) Homo sapiens

Analyze

Symbol:

COQ2

Name:

coenzyme Q2, polyprenyltransferase

RGD ID:

1603662

HGNC Page

HGNC:25223

Description:

Enables 4-hydroxybenzoate decaprenyltransferase activity. Involved in glycerol metabolic process and ubiquinone biosynthetic process. Located in mitochondrial inner membrane. Implicated in primary coenzyme Q10 deficiency 1.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

4-HB polyprenyltransferase; 4-hydroxybenzoate decaprenyltransferase; 4-hydroxybenzoate polyprenyltransferase; 4-hydroxybenzoate polyprenyltransferase, mitochondrial; CL640; coenzyme Q2 4-hydroxybenzoate polyprenyltransferase; coenzyme Q2 homolog, prenyltransferase; COQ10D1; COQ2 homolog; FLJ13014; FLJ26072; hCOQ2; MSA1; para-hydroxybenzoate--polyprenyltransferase; para-hydroxybenzoate--polyprenyltransferase, mitochondrial; para-hydroxybenzoate-polyprenyltransferase, mitochondrial; PHB:polyprenyltransferase; PHB:PPT

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Coq2 (coenzyme Q2 4-hydroxybenzoate polyprenyltransferase)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Coq2 (coenzyme Q2, polyprenyltransferase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Coq2 (coenzyme Q2, polyprenyltransferase)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	COQ2 (coenzyme Q2, polyprenyltransferase)	NCBI	Ortholog
Canis lupus familiaris (dog):	COQ2 (coenzyme Q2, polyprenyltransferase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Coq2 (coenzyme Q2, polyprenyltransferase)	NCBI	Ortholog
Sus scrofa (pig):	COQ2 (coenzyme Q2, polyprenyltransferase)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	COQ2 (coenzyme Q2, polyprenyltransferase)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Coq2 (coenzyme Q2, polyprenyltransferase)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Coq2 (coenzyme Q2, polyprenyltransferase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Coq2 (coenzyme Q2 4-hydroxybenzoate polyprenyltransferase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	coq2 (coenzyme Q2 4-hydroxybenzoate polyprenyltransferase)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	COQ2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Coq2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	coq-2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	83,263,824 - 83,285,134 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	4	83,261,536 - 83,284,914 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	84,184,977 - 84,206,287 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	84,404,001 - 84,424,988 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	81,475,423 - 81,496,467 (-)	NCBI		Celera
Cytogenetic Map	4	q21.23	NCBI
HuRef	4	79,927,976 - 79,949,127 (-)	NCBI		HuRef
CHM1_1	4	84,161,731 - 84,182,795 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	86,593,916 - 86,615,230 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

chromosome 4q21 deletion syndrome (IAGP)

coenzyme Q10 deficiency disease (IAGP)

focal segmental glomerulosclerosis (IAGP)

glucose intolerance (ISO)

Insulin Resistance (ISO)

kidney disease (IAGP)

multiple system atrophy (EXP,IAGP)

Multiple System Atrophy (MSA) with Orthostatic Hypotension (IAGP)

nephrotic syndrome (IAGP)

primary coenzyme Q10 deficiency 1 (IAGP)

Shy-Drager Syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

1,2-dimethylhydrazine (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

acrylamide (EXP)

amiodarone (ISO)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (EXP)

arsenous acid (EXP)

benzo[a]pyrene (ISO)

bisphenol A (EXP,ISO)

cadmium dichloride (ISO)

carbonyl cyanide p-trifluoromethoxyphenylhydrazone (EXP)

cobalt dichloride (EXP)

copper(II) sulfate (EXP)

coumestrol (EXP)

DDT (ISO)

diarsenic trioxide (EXP)

dorsomorphin (EXP)

ethyl methanesulfonate (EXP)

folic acid (ISO)

formaldehyde (EXP)

genistein (ISO)

gentamycin (ISO)

hydrogen peroxide (EXP)

methyl methanesulfonate (EXP)

methylisothiazolinone (EXP)

paracetamol (EXP,ISO)

phenethyl isothiocyanate (EXP)

pirinixic acid (ISO)

potassium chromate (EXP)

resveratrol (EXP)

SB 431542 (EXP)

sunitinib (EXP)

trovafloxacin (ISO)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular biosynthetic process (IEA)

glycerol metabolic process (IGI)

isoprenoid biosynthetic process (IEA)

organic substance biosynthetic process (IEA)

ubiquinone biosynthetic process (IBA,IDA,IEA,IGI,IMP,TAS)

Cellular Component

membrane (IEA)

mitochondrial inner membrane (IBA,IDA,IEA,TAS)

mitochondrion (IEA)

obsolete integral component of mitochondrial inner membrane (IBA,IDA,IEA)

Molecular Function

4-hydroxybenzoate decaprenyltransferase activity (IBA,IEA,IMP,TAS)

4-hydroxybenzoate nonaprenyltransferase activity (IEA)

4-hydroxybenzoate octaprenyltransferase activity (IEA)

prenyltransferase activity (IEA,IGI)

transferase activity (IEA)

transferase activity, transferring alkyl or aryl (other than methyl) groups (IBA,IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

ubiquinone biosynthetic pathway (EXP,IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal brain FDG positron emission tomography (IAGP)

Abnormal pyramidal sign (IAGP)

Abnormal rapid eye movement sleep (IAGP)

Adult onset (IAGP)

Anemia (IAGP)

Anhidrosis (IAGP)

Anxiety (IAGP)

Apathy (IAGP)

Ataxia (IAGP)

Autonomic bladder dysfunction (IAGP)

Autonomic erectile dysfunction (IAGP)

Autosomal dominant inheritance (IAGP)

Autosomal recessive inheritance (IAGP)

Axial dystonia (IAGP)

Babinski sign (IAGP)

Bilateral tonic-clonic seizure with focal onset (IAGP)

Bradykinesia (IAGP)

Broad-based gait (IAGP)

Camptocormia (IAGP)

Cardiomegaly (IAGP)

Central sleep apnea (IAGP)

Cerebellar atrophy (IAGP)

Cerebral visual impairment (IAGP)

Cognitive impairment (IAGP)

Constipation (IAGP)

Decreased level of coenzyme Q10 in skeletal muscle (IAGP)

Depression (IAGP)

Developmental regression (IAGP)

Diffuse cerebral atrophy (IAGP)

Downbeat nystagmus (IAGP)

Dysarthria (IAGP)

Dysphagia (IAGP)

Dysphonia (IAGP)

EEG with focal spikes (IAGP)

Elevated circulating creatine kinase concentration (IAGP)

Encephalopathy (IAGP)

Episodic vomiting (IAGP)

Fatigue (IAGP)

Female anorgasmia (IAGP)

Focal segmental glomerulosclerosis (IAGP)

Focal T2 hyperintense basal ganglia lesion (IAGP)

Frequent falls (IAGP)

Gait ataxia (IAGP)

Gastrostomy tube feeding in infancy (IAGP)

Gaze-evoked nystagmus (IAGP)

Generalized edema (IAGP)

Global developmental delay (IAGP)

Glomerular sclerosis (IAGP)

Heavy proteinuria (IAGP)

Hepatic failure (IAGP)

Hypergonadotropic hypogonadism (IAGP)

Hyperreflexia (IAGP)

Hypertrophic cardiomyopathy (IAGP)

Hypoalbuminemia (IAGP)

Hypohidrosis (IAGP)

Hypotonia (IAGP)

Impotence (IAGP)

Increased serum lactate (IAGP)

Infantile muscular hypotonia (IAGP)

Infantile onset (IAGP)

Intellectual disability (IAGP)

Intrauterine growth retardation (IAGP)

Iris atrophy (IAGP)

Lactic acidosis (IAGP)

Limb ataxia (IAGP)

Loss of ambulation (IAGP)

Motor delay (IAGP)

Myoclonus (IAGP)

Nephropathy (IAGP)

Nephrotic syndrome (IAGP)

Neurodegeneration (IAGP)

Neuromuscular dysphagia (IAGP)

Nystagmus (IAGP)

Oligohydramnios (IAGP)

Olivopontocerebellar atrophy (IAGP)

Orofacial dyskinesia (IAGP)

Orthostatic hypotension (IAGP)

Orthostatic hypotension due to autonomic dysfunction (IAGP)

Orthostatic syncope (IAGP)

Pancytopenia (IAGP)

Parkinsonism (IAGP)

Postural instability (IAGP)

Postural tremor (IAGP)

Progressive (IAGP)

Progressive cerebellar ataxia (IAGP)

Progressive muscle weakness (IAGP)

Proteinuria (IAGP)

Ptosis (IAGP)

Ragged-red muscle fibers (IAGP)

Raynaud phenomenon (IAGP)

Recurrent myoglobinuria (IAGP)

Renal cyst (IAGP)

Renal tubular acidosis (IAGP)

Resting tremor (IAGP)

Right hemiplegia (IAGP)

Rigidity (IAGP)

Rod-cone dystrophy (IAGP)

Scanning speech (IAGP)

Seizure (IAGP)

Sensorineural hearing impairment (IAGP)

Severe lactic acidosis (IAGP)

Skeletal muscle atrophy (IAGP)

Specific learning disability (IAGP)

Sporadic (IAGP)

Status epilepticus (IAGP)

Stridor (IAGP)

Tremor (IAGP)

Tubulointerstitial nephritis (IAGP)

Undetectable visual evoked potentials (IAGP)

Urinary incontinence (IAGP)

Urinary urgency (IAGP)

Visual loss (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7.	New animal models reveal that coenzyme Q2 (Coq2) and placenta-specific 8 (Plac8) are candidate genes for the onset of type 2 diabetes associated with obesity in rats.	Sasaki D, etal., Mamm Genome. 2015 Dec;26(11-12):619-29. doi: 10.1007/s00335-015-9597-4. Epub 2015 Aug 22.

Additional References at PubMed

PMID:10737800	PMID:12477932	PMID:14702039	PMID:15153069	PMID:15489334	PMID:15905035	PMID:16400613	PMID:16643834	PMID:16873928	PMID:17332895	PMID:17374725	PMID:17376224
PMID:17510911	PMID:17855635	PMID:18230681	PMID:19096106	PMID:20301317	PMID:20507940	PMID:20877624	PMID:21873635	PMID:22490322	PMID:23343605	PMID:23758206	PMID:24262183
PMID:25373618	PMID:25594503	PMID:25613861	PMID:26096180	PMID:26098829	PMID:26590992	PMID:27394078	PMID:27493029	PMID:27499296	PMID:28044327	PMID:28125198	PMID:29128334
PMID:29644397	PMID:30033366	PMID:30613928	PMID:31398377	PMID:31615875	PMID:32694731	PMID:33215859	PMID:33397173	PMID:33961781	PMID:35559673	PMID:35748722

Genomics

Comparative Map Data

COQ2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	83,263,824 - 83,285,134 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	4	83,261,536 - 83,284,914 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	84,184,977 - 84,206,287 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	84,404,001 - 84,424,988 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	81,475,423 - 81,496,467 (-)	NCBI		Celera
Cytogenetic Map	4	q21.23	NCBI
HuRef	4	79,927,976 - 79,949,127 (-)	NCBI		HuRef
CHM1_1	4	84,161,731 - 84,182,795 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	86,593,916 - 86,615,230 (-)	NCBI		T2T-CHM13v2.0

Coq2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	100,802,589 - 100,822,154 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	100,802,589 - 100,823,006 (-)	Ensembl		GRCm39 Ensembl
GRCm38	5	100,654,723 - 100,674,288 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	100,654,723 - 100,675,140 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	101,083,745 - 101,103,275 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	100,895,025 - 100,914,553 (-)	NCBI		MGSCv36	mm8
Celera	5	97,982,052 - 98,001,590 (-)	NCBI		Celera
Cytogenetic Map	5	E4	NCBI

Coq2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	14	8,941,429 - 8,961,418 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	14	8,941,461 - 8,960,891 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	14	8,915,185 - 8,934,633 (+)	NCBI	Rnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0	14	10,215,035 - 10,234,483 (+)	NCBI	Rnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0	14	8,911,662 - 8,931,114 (+)	NCBI	Rnor_WKY
Rnor_6.0	14	10,581,102 - 10,601,093 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	14	10,581,136 - 10,600,566 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	14	10,528,319 - 10,548,301 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	14	10,189,565 - 10,208,996 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	14	10,195,628 - 10,208,348 (+)	NCBI
Celera	14	9,049,524 - 9,068,955 (+)	NCBI		Celera
Cytogenetic Map	14	p22	NCBI

Coq2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955474	6,403,409 - 6,422,135 (+)	NCBI	ChiLan1.0	ChiLan1.0

COQ2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	4	46,762,458 - 46,784,014 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	46,762,659 - 46,784,014 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	4	40,913,015 - 40,934,594 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

COQ2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	32	7,143,476 - 7,162,765 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	32	7,139,126 - 7,162,764 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	32	34,722,845 - 34,742,130 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	32	7,164,793 - 7,184,091 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	32	7,164,795 - 7,184,106 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	32	7,235,036 - 7,254,317 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	32	7,104,281 - 7,123,575 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	32	32,838,111 - 32,857,407 (+)	NCBI		UU_Cfam_GSD_1.0

Coq2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405285	5,192,591 - 5,266,973 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936738	1,354,424 - 1,371,497 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

COQ2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	8	135,130,453 - 135,150,031 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	8	135,130,486 - 135,150,428 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	8	144,426,855 - 144,445,997 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

COQ2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	7	31,656,294 - 31,677,423 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	7	31,656,670 - 31,677,274 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	10,251,823 - 10,272,997 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Coq2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624900	272,404 - 288,675 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624900	272,440 - 288,090 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in COQ2
152 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
COQ2, 1-BP DEL, 1198T	deletion	Coenzyme Q10 deficiency [RCV000001502]\|Coenzyme Q10 deficiency, primary 1 [RCV000001502]	Chr4:4q21-q22	pathogenic
NM_001358921.2(COQ2):c.225_226insAG (p.Arg76fs)	insertion	not provided [RCV000722323]	Chr4:83284539..83284540 [GRCh38] Chr4:84205692..84205693 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.225dup (p.Arg76fs)	duplication	not provided [RCV000722546]	Chr4:83284539..83284540 [GRCh38] Chr4:84205692..84205693 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys)	single nucleotide variant	Coenzyme Q10 deficiency [RCV000416386]\|Coenzyme Q10 deficiency, primary, 1 [RCV000001501]	Chr4:83269882 [GRCh38] Chr4:84191035 [GRCh37] Chr4:4q21.23	pathogenic\|not provided
NM_001358921.2(COQ2):c.440G>A (p.Arg147His)	single nucleotide variant	Coenzyme Q10 deficiency [RCV000416395]\|Coenzyme Q10 deficiency, primary, 1 [RCV000001503]\|Coenzyme Q10 deficiency, primary, 1 [RCV002504734]\|not provided [RCV001550184]	Chr4:83273598 [GRCh38] Chr4:84194751 [GRCh37] Chr4:4q21.23	pathogenic\|likely pathogenic\|not provided
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)	single nucleotide variant	Coenzyme Q10 deficiency [RCV000416407]\|Coenzyme Q10 deficiency, primary, 1 [RCV000001504]\|Nephrotic syndrome [RCV001849251]\|not provided [RCV001753396]	Chr4:83273505 [GRCh38] Chr4:84194658 [GRCh37] Chr4:4q21.23	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn)	single nucleotide variant	Coenzyme Q10 deficiency [RCV000416406]\|Coenzyme Q10 deficiency, primary, 1 [RCV000001505]\|Coenzyme Q10 deficiency, primary, 1 [RCV002496230]	Chr4:83279081 [GRCh38] Chr4:84200234 [GRCh37] Chr4:4q21.23	pathogenic\|not provided
GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	copy number loss	See cases [RCV000050786]	Chr4:75453111..84094295 [GRCh38] Chr4:76378321..85015448 [GRCh37] Chr4:76597345..85234472 [NCBI36] Chr4:4q21.1-21.23	pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	copy number gain	See cases [RCV000051772]	Chr4:51831622..97505618 [GRCh38] Chr4:52697788..98426769 [GRCh37] Chr4:52392545..98645792 [NCBI36] Chr4:4q12-22.3	pathogenic
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]\|See cases [RCV000053294]	Chr4:67869564..85517308 [GRCh38] Chr4:68735282..86438461 [GRCh37] Chr4:68417877..86657485 [NCBI36] Chr4:4q13.2-21.23	pathogenic
GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]\|See cases [RCV000053296]	Chr4:74031395..90421127 [GRCh38] Chr4:74897112..91342278 [GRCh37] Chr4:75115976..91561301 [NCBI36] Chr4:4q13.3-22.1	pathogenic
GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	copy number loss	See cases [RCV000053297]	Chr4:79575748..92412449 [GRCh38] Chr4:80496902..93333600 [GRCh37] Chr4:80715926..93552623 [NCBI36] Chr4:4q21.21-22.1	pathogenic
GRCh38/hg38 4q21.21-21.23(chr4:81061483-83332595)x1	copy number loss	See cases [RCV000053298]	Chr4:81061483..83332595 [GRCh38] Chr4:81982637..84253748 [GRCh37] Chr4:82201661..84472772 [NCBI36] Chr4:4q21.21-21.23	pathogenic
GRCh38/hg38 4q21.22-21.23(chr4:81733333-83448842)x1	copy number loss	See cases [RCV000053299]	Chr4:81733333..83448842 [GRCh38] Chr4:82654487..84369995 [GRCh37] Chr4:82873511..84589019 [NCBI36] Chr4:4q21.22-21.23	pathogenic
GRCh38/hg38 4q21.22-21.23(chr4:81802008-83437114)x1	copy number loss	See cases [RCV000053300]	Chr4:81802008..83437114 [GRCh38] Chr4:82723161..84358267 [GRCh37] Chr4:82942185..84577291 [NCBI36] Chr4:4q21.22-21.23	pathogenic
GRCh38/hg38 4q21.22-21.3(chr4:82248692-86778340)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053319]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053319]\|See cases [RCV000053319]	Chr4:82248692..86778340 [GRCh38] Chr4:83169845..87699493 [GRCh37] Chr4:83388869..87918517 [NCBI36] Chr4:4q21.22-21.3	pathogenic
NM_001358921.2(COQ2):c.232A>G (p.Met78Val)	single nucleotide variant	Coenzyme Q10 deficiency [RCV000416397]\|Coenzyme Q10 deficiency, primary, 1 [RCV002271394]\|Coenzyme Q10 deficiency, primary, 1 [RCV002490627]\|Multiple system atrophy [RCV000054428]\|not provided [RCV001853076]	Chr4:83284533 [GRCh38] Chr4:84205686 [GRCh37] Chr4:4q21.23	pathogenic\|likely pathogenic\|risk factor\|uncertain significance\|not provided
NM_001358921.2(COQ2):c.878T>C (p.Val293Ala)	single nucleotide variant	Multiple system atrophy [RCV000054429]	Chr4:83267659 [GRCh38] Chr4:84188812 [GRCh37] Chr4:4q21.23	risk factor
NM_001358921.2(COQ2):c.1009C>T (p.Arg337Ter)	single nucleotide variant	Coenzyme Q10 deficiency [RCV000416412]\|Multiple system atrophy [RCV000054430]	Chr4:83264306 [GRCh38] Chr4:84185459 [GRCh37] Chr4:4q21.23	pathogenic\|risk factor\|not provided
NM_001358921.2(COQ2):c.1010G>A (p.Arg337Gln)	single nucleotide variant	Multiple system atrophy [RCV000054431]	Chr4:83264305 [GRCh38] Chr4:84185458 [GRCh37] Chr4:4q21.23	risk factor
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV000613316]\|not provided [RCV000676768]\|not specified [RCV000116807]	Chr4:83284719 [GRCh38] Chr4:84205872 [GRCh37] Chr4:4q21.23	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001358921.2(COQ2):c.744T>C (p.Asp248=)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV000606206]\|not provided [RCV000676766]\|not specified [RCV000116808]	Chr4:83269878 [GRCh38] Chr4:84191031 [GRCh37] Chr4:4q21.23	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001358921.2(COQ2):c.840C>T (p.Ser280=)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV000603582]\|not provided [RCV000676765]\|not specified [RCV000116809]	Chr4:83267697 [GRCh38] Chr4:84188850 [GRCh37] Chr4:4q21.23	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001358921.2(COQ2):c.424A>G (p.Thr142Ala)	single nucleotide variant	not provided [RCV000438954]\|not specified [RCV000124531]	Chr4:83273614 [GRCh38] Chr4:84194767 [GRCh37] Chr4:4q21.23	benign\|likely benign
NM_001358921.2(COQ2):c.437A>G (p.Asn146Ser)	single nucleotide variant	not provided [RCV000429337]\|not specified [RCV000124532]	Chr4:83273601 [GRCh38] Chr4:84194754 [GRCh37] Chr4:4q21.23	benign\|likely benign
NM_001358921.2(COQ2):c.762+14C>A	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002492459]\|not provided [RCV002055509]\|not specified [RCV000124534]	Chr4:83269846 [GRCh38] Chr4:84190999 [GRCh37] Chr4:4q21.23	benign\|likely benign
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002505083]\|not provided [RCV000968033]\|not specified [RCV000124536]	Chr4:83264358 [GRCh38] Chr4:84185511 [GRCh37] Chr4:4q21.23	benign\|likely benign
NM_015697.9(COQ2):c.-23C>T	single nucleotide variant	not specified [RCV000124537]	Chr4:83284937 [GRCh38] Chr4:84206090 [GRCh37] Chr4:4q21.23	benign
NM_015697.9(COQ2):c.64A>C (p.Arg22_Leu23=)	single nucleotide variant	not provided [RCV000757129]\|not specified [RCV000124538]	Chr4:83284851 [GRCh38] Chr4:84206004 [GRCh37] Chr4:4q21.23	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV000721994]\|Coenzyme Q10 deficiency, primary, 1 [RCV002492460]\|Focal segmental glomerulosclerosis [RCV002294039]\|not provided [RCV000676770]\|not specified [RCV000124539]	Chr4:83284851 [GRCh38] Chr4:84206004 [GRCh37] Chr4:4q21.23	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_015697.9(COQ2):c.73T>G (p.Leu25Val)	single nucleotide variant	not provided [RCV000960844]\|not specified [RCV000124540]	Chr4:83284842 [GRCh38] Chr4:84205995 [GRCh37] Chr4:4q21.23	benign
NM_001358921.2(COQ2):c.189G>T (p.Val63=)	single nucleotide variant	Focal segmental glomerulosclerosis [RCV002294040]\|not provided [RCV000961554]\|not specified [RCV000124542]	Chr4:83284576 [GRCh38] Chr4:84205729 [GRCh37] Chr4:4q21.23	benign\|likely benign
GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	copy number loss	See cases [RCV000134977]	Chr4:80879777..94809447 [GRCh38] Chr4:81800931..95730598 [GRCh37] Chr4:82019955..95949621 [NCBI36] Chr4:4q21.21-22.3	pathogenic
GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	copy number loss	See cases [RCV000136865]	Chr4:79786514..85832807 [GRCh38] Chr4:80707668..86753960 [GRCh37] Chr4:80926692..86972984 [NCBI36] Chr4:4q21.21-21.23	pathogenic
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	copy number loss	See cases [RCV000137269]	Chr4:80427023..100855441 [GRCh38] Chr4:81348177..101776598 [GRCh37] Chr4:81567201..101995621 [NCBI36] Chr4:4q21.21-24	pathogenic
GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1	copy number loss	See cases [RCV000137863]	Chr4:80908016..84329610 [GRCh38] Chr4:81829170..85250763 [GRCh37] Chr4:82048194..85469787 [NCBI36] Chr4:4q21.21-21.23	likely pathogenic
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	copy number gain	See cases [RCV000138312]	Chr4:72262258..86002147 [GRCh38] Chr4:73127975..86923300 [GRCh37] Chr4:73346839..87142324 [NCBI36] Chr4:4q13.3-21.3	pathogenic
GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	copy number loss	See cases [RCV000140416]	Chr4:80043949..86948317 [GRCh38] Chr4:80965103..87869469 [GRCh37] Chr4:81184127..88088493 [NCBI36] Chr4:4q21.21-21.3	pathogenic
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala)	single nucleotide variant	Focal segmental glomerulosclerosis [RCV002294077]\|not provided [RCV000515124]\|not specified [RCV000203101]	Chr4:83284571 [GRCh38] Chr4:84205724 [GRCh37] Chr4:4q21.23	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1	copy number loss	See cases [RCV000143321]	Chr4:81675848..83970410 [GRCh38] Chr4:82597002..84891563 [GRCh37] Chr4:82816026..85110587 [NCBI36] Chr4:4q21.22-21.23	likely pathogenic
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	copy number gain	See cases [RCV000143458]	Chr4:68686088..95294456 [GRCh38] Chr4:69551806..96215607 [GRCh37] Chr4:69234401..96434630 [NCBI36] Chr4:4q13.2-22.3	pathogenic
NM_015697.8(COQ2):c.*337A>T	single nucleotide variant	Coenzyme Q10 deficiency, primary [RCV000264486]	Chr4:83263862 [GRCh38] Chr4:84185015 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.34G>C (p.Gly12Arg)	single nucleotide variant	not provided [RCV000196472]	Chr4:83284731 [GRCh38] Chr4:84205884 [GRCh37] Chr4:4q21.23	uncertain significance
NM_015697.7(COQ2):c.1157A>C (p.Asn386Thr)	single nucleotide variant	not provided [RCV000196578]	Chr4:83264308 [GRCh38] Chr4:84185461 [GRCh37] Chr4:4q21.23	likely pathogenic
NM_001358921.2(COQ2):c.1100A>G (p.Asn367Ser)	single nucleotide variant	not provided [RCV001853171]\|not specified [RCV000200819]	Chr4:83264215 [GRCh38] Chr4:84185368 [GRCh37] Chr4:4q21.23	likely benign\|uncertain significance
NM_015697.7(COQ2):c.86G>C (p.Gly29Ala)	single nucleotide variant	not specified [RCV000197234]	Chr4:83284829 [GRCh38] Chr4:84205982 [GRCh37] Chr4:4q21.23	likely benign
NM_015697.9(COQ2):c.16C>A (p.Gln6Lys)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV000656337]	Chr4:83284899 [GRCh38] Chr4:84206052 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.227G>A (p.Arg76His)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002485305]\|not provided [RCV000197582]	Chr4:83284538 [GRCh38] Chr4:84205691 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.85T>C (p.Phe29Leu)	single nucleotide variant	not specified [RCV000198036]	Chr4:83284680 [GRCh38] Chr4:84205833 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.1028T>C (p.Val343Ala)	single nucleotide variant	not provided [RCV001511041]\|not specified [RCV000198921]	Chr4:83264287 [GRCh38] Chr4:84185440 [GRCh37] Chr4:4q21.23	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001358921.2(COQ2):c.-23C>G	single nucleotide variant	not provided [RCV001853172]\|not specified [RCV000199029]	Chr4:83284787 [GRCh38] Chr4:84205940 [GRCh37] Chr4:4q21.23	likely benign\|uncertain significance
NM_001358921.2(COQ2):c.-2C>G	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002479519]\|not provided [RCV001934356]	Chr4:83284766 [GRCh38] Chr4:84205919 [GRCh37] Chr4:4q21.23	likely benign\|uncertain significance
NM_001358921.2(COQ2):c.800C>T (p.Thr267Met)	single nucleotide variant	not provided [RCV000195593]	Chr4:83267737 [GRCh38] Chr4:84188890 [GRCh37] Chr4:4q21.23	pathogenic
NM_001358921.2(COQ2):c.137C>T (p.Pro46Leu)	single nucleotide variant	not provided [RCV000886522]\|not specified [RCV000199239]	Chr4:83284628 [GRCh38] Chr4:84205781 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.317T>C (p.Phe106Ser)	single nucleotide variant	not provided [RCV000200040]	Chr4:83279051 [GRCh38] Chr4:84200204 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.132del (p.Gln44fs)	deletion	not provided [RCV000200152]	Chr4:83284633 [GRCh38] Chr4:84205786 [GRCh37] Chr4:4q21.23	pathogenic
NM_001358921.2(COQ2):c.629-1022C>G	single nucleotide variant	not provided [RCV001515191]	Chr4:83271015 [GRCh38] Chr4:84192168 [GRCh37] Chr4:4q21.23	benign\|drug response
NM_015697.9(COQ2):c.48dup (p.Ala17fs)	duplication	Focal segmental glomerulosclerosis [RCV002294084]\|not provided [RCV000224356]	Chr4:83284866..83284867 [GRCh38] Chr4:84206019..84206020 [GRCh37] Chr4:4q21.23	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_015697.9(COQ2):c.30G>A (p.Arg10_Lys11=)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002503944]\|not provided [RCV000676771]\|not specified [RCV000246109]	Chr4:83284885 [GRCh38] Chr4:84206038 [GRCh37] Chr4:4q21.23	benign\|likely benign
NM_001358921.2(COQ2):c.165G>C (p.Gln55His)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002505909]\|not provided [RCV002269463]	Chr4:83284600 [GRCh38] Chr4:84205753 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.*257T>C	single nucleotide variant	Coenzyme Q10 deficiency [RCV000378677]	Chr4:83263942 [GRCh38] Chr4:84185095 [GRCh37] Chr4:4q21.23	uncertain significance
NM_015697.8(COQ2):c.*151A>G	single nucleotide variant	Coenzyme Q10 deficiency, primary [RCV000381944]	Chr4:83264048 [GRCh38] Chr4:84185201 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.*53G>A	single nucleotide variant	not provided [RCV001547500]	Chr4:83264146 [GRCh38] Chr4:84185299 [GRCh37] Chr4:4q21.23	likely benign\|uncertain significance
NM_001358921.2(COQ2):c.*269G>A	single nucleotide variant	not provided [RCV001562584]	Chr4:83263930 [GRCh38] Chr4:84185083 [GRCh37] Chr4:4q21.23	likely benign\|uncertain significance
NM_001358921.2(COQ2):c.*348dup	duplication	Coenzyme Q10 deficiency [RCV000356901]	Chr4:83263850..83263851 [GRCh38] Chr4:84185003..84185004 [GRCh37] Chr4:4q21.23	uncertain significance
NM_015697.8(COQ2):c.*232C>G	single nucleotide variant	Coenzyme Q10 deficiency, primary [RCV000267965]	Chr4:83263967 [GRCh38] Chr4:84185120 [GRCh37] Chr4:4q21.23	uncertain significance
NM_015697.8(COQ2):c.*15C>T	single nucleotide variant	Coenzyme Q10 deficiency, primary [RCV000347069]	Chr4:83264184 [GRCh38] Chr4:84185337 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.808C>T (p.Arg270Trp)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002484883]\|not provided [RCV002007709]	Chr4:83267729 [GRCh38] Chr4:84188882 [GRCh37] Chr4:4q21.23	uncertain significance
NM_015697.8(COQ2):c.*153A>G	single nucleotide variant	Coenzyme Q10 deficiency, primary [RCV000325353]	Chr4:83264046 [GRCh38] Chr4:84185199 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.868C>T (p.Leu290=)	single nucleotide variant	not provided [RCV000730523]	Chr4:83267669 [GRCh38] Chr4:84188822 [GRCh37] Chr4:4q21.23	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	copy number gain	See cases [RCV000446653]	Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
NM_001358921.2(COQ2):c.453T>C (p.Ala151=)	single nucleotide variant	not specified [RCV000437796]	Chr4:83273585 [GRCh38] Chr4:84194738 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.1044C>T (p.Val348=)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002506045]\|not provided [RCV000905365]	Chr4:83264271 [GRCh38] Chr4:84185424 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.651G>A (p.Ala217=)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002488875]\|not provided [RCV000898990]	Chr4:83269971 [GRCh38] Chr4:84191124 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.254-12A>G	single nucleotide variant	not specified [RCV000422358]	Chr4:83279126 [GRCh38] Chr4:84200279 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.625T>C (p.Leu209=)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002488874]\|not provided [RCV000931819]	Chr4:83272090 [GRCh38] Chr4:84193243 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.1047del (p.Asn351fs)	deletion	Coenzyme Q10 deficiency [RCV000416389]\|Coenzyme Q10 deficiency, primary, 1 [RCV000001502]	Chr4:83264268 [GRCh38] Chr4:84185421 [GRCh37] Chr4:4q21.23	pathogenic\|not provided
NM_001358921.2(COQ2):c.395T>G (p.Met132Arg)	single nucleotide variant	Coenzyme Q10 deficiency [RCV000416391]	Chr4:83278973 [GRCh38] Chr4:84200126 [GRCh37] Chr4:4q21.23	pathogenic\|not provided
NM_001358921.2(COQ2):c.755C>T (p.Ala252Val)	single nucleotide variant	Coenzyme Q10 deficiency [RCV000416400]	Chr4:83269867 [GRCh38] Chr4:84191020 [GRCh37] Chr4:4q21.23	pathogenic\|not provided
GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1	copy number loss	See cases [RCV000447691]	Chr4:82283358..90341831 [GRCh37] Chr4:4q21.21-22.1	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	copy number gain	See cases [RCV000510453]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q21.22-21.23(chr4:83954528-85807754)x1	copy number loss	See cases [RCV000510348]	Chr4:83954528..85807754 [GRCh37] Chr4:4q21.22-21.23	uncertain significance
NM_001358921.2(COQ2):c.310G>A (p.Gly104Ser)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002476014]\|not provided [RCV000508587]	Chr4:83279058 [GRCh38] Chr4:84200211 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.585C>G (p.Tyr195Ter)	single nucleotide variant	not provided [RCV000578697]	Chr4:83272130 [GRCh38] Chr4:84193283 [GRCh37] Chr4:4q21.23	likely pathogenic
NM_001358921.2(COQ2):c.130C>T (p.Gln44Ter)	single nucleotide variant	not provided [RCV000578943]	Chr4:83284635 [GRCh38] Chr4:84205788 [GRCh37] Chr4:4q21.23	likely pathogenic
NM_001358921.2(COQ2):c.704C>G (p.Pro235Arg)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV000625563]	Chr4:83269918 [GRCh38] Chr4:84191071 [GRCh37] Chr4:4q21.23	likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	copy number gain	See cases [RCV000512241]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV001542536]\|not provided [RCV000676767]	Chr4:83284595 [GRCh38] Chr4:84205748 [GRCh37] Chr4:4q21.23	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001358921.2(COQ2):c.18C>G (p.Ala6=)	single nucleotide variant	not provided [RCV000676769]	Chr4:83284747 [GRCh38] Chr4:84205900 [GRCh37] Chr4:4q21.23	likely benign
GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	copy number loss	not provided [RCV000682426]	Chr4:81314915..96636651 [GRCh37] Chr4:4q21.21-22.3	pathogenic
NM_001358921.2(COQ2):c.1067AGA[1] (p.Lys357del)	microsatellite	Coenzyme Q10 deficiency, primary, 1 [RCV000721993]\|Coenzyme Q10 deficiency, primary, 1 [RCV002477670]	Chr4:83264243..83264245 [GRCh38] Chr4:84185396..84185398 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.253+4A>T	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV001004880]	Chr4:83284508 [GRCh38] Chr4:84205661 [GRCh37] Chr4:4q21.23	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3	copy number gain	not provided [RCV000743155]	Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3	copy number gain	not provided [RCV000743156]	Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3	copy number gain	not provided [RCV000743147]	Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
NM_001358921.2(COQ2):c.543-41G>A	single nucleotide variant	not provided [RCV001691477]	Chr4:83272213 [GRCh38] Chr4:84193366 [GRCh37] Chr4:4q21.23	benign
GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1	copy number loss	See cases [RCV000790579]	Chr4:80482400..92572499 [GRCh37] Chr4:4q21.21-22.1	pathogenic
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002488477]\|not provided [RCV001727983]\|not specified [RCV001702313]	Chr4:83284629 [GRCh38] Chr4:84205782 [GRCh37] Chr4:4q21.23	benign\|likely benign\|uncertain significance
NM_001358921.2(COQ2):c.220T>A (p.Tyr74Asn)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV000995527]	Chr4:83284545 [GRCh38] Chr4:84205698 [GRCh37] Chr4:4q21.23	likely pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228)	copy number loss	not provided [RCV000767792]	Chr4:82043901..88334228 [GRCh37] Chr4:4q21.21-22.1	pathogenic
NM_001358921.2(COQ2):c.138dup (p.Ala47fs)	duplication	Coenzyme Q10 deficiency [RCV000778744]\|Coenzyme Q10 deficiency, primary, 1 [RCV001535863]\|not provided [RCV000930683]	Chr4:83284626..83284627 [GRCh38] Chr4:84205779..84205780 [GRCh37] Chr4:4q21.23	pathogenic\|likely pathogenic\|likely benign\|uncertain significance
NM_001358921.2(COQ2):c.891T>C (p.Ser297=)	single nucleotide variant	not provided [RCV000915861]	Chr4:83267646 [GRCh38] Chr4:84188799 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.763-307G>C	single nucleotide variant	not provided [RCV000832383]	Chr4:83268081 [GRCh38] Chr4:84189234 [GRCh37] Chr4:4q21.23	benign
NM_001358921.2(COQ2):c.543-247T>C	single nucleotide variant	not provided [RCV000843724]	Chr4:83272419 [GRCh38] Chr4:84193572 [GRCh37] Chr4:4q21.23	benign
NM_001358921.2(COQ2):c.762+264T>C	single nucleotide variant	not provided [RCV000843725]	Chr4:83269596 [GRCh38] Chr4:84190749 [GRCh37] Chr4:4q21.23	benign
NM_001358921.2(COQ2):c.254-50A>T	single nucleotide variant	not provided [RCV000833435]	Chr4:83279164 [GRCh38] Chr4:84200317 [GRCh37] Chr4:4q21.23	likely benign
NM_015697.9(COQ2):c.-90A>G	single nucleotide variant	not provided [RCV000837252]	Chr4:83285004 [GRCh38] Chr4:84206157 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.762+49A>G	single nucleotide variant	not provided [RCV000835231]	Chr4:83269811 [GRCh38] Chr4:84190964 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.951+153C>T	single nucleotide variant	not provided [RCV000830500]	Chr4:83267433 [GRCh38] Chr4:84188586 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.542+320_542+321insTATG	insertion	not provided [RCV000843719]	Chr4:83273175..83273176 [GRCh38] Chr4:84194328..84194329 [GRCh37] Chr4:4q21.23	benign
NM_001358921.2(COQ2):c.951+215T>G	single nucleotide variant	not provided [RCV000843728]	Chr4:83267371 [GRCh38] Chr4:84188524 [GRCh37] Chr4:4q21.23	benign
NM_001358921.2(COQ2):c.951+217C>T	single nucleotide variant	not provided [RCV000843729]	Chr4:83267369 [GRCh38] Chr4:84188522 [GRCh37] Chr4:4q21.23	benign
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	copy number loss	not provided [RCV001005556]	Chr4:72680879..86426232 [GRCh37] Chr4:4q13.3-21.23	pathogenic
NM_001358921.2(COQ2):c.-30del	deletion	not provided [RCV001008832]	Chr4:83284794 [GRCh38] Chr4:84205947 [GRCh37] Chr4:4q21.23	likely pathogenic
GRCh37/hg19 4q21.22-21.23(chr4:82593140-85651685)x1	copy number loss	not provided [RCV001005566]	Chr4:82593140..85651685 [GRCh37] Chr4:4q21.22-21.23	pathogenic
GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1	copy number loss	not provided [RCV000846933]	Chr4:78769297..84968832 [GRCh37] Chr4:4q21.1-21.23	pathogenic
NM_001358921.2(COQ2):c.-20del	deletion	not provided [RCV001574033]	Chr4:83284784 [GRCh38] Chr4:84205937 [GRCh37] Chr4:4q21.23	uncertain significance
NM_015697.9(COQ2):c.115A>T (p.Thr39Ser)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV001542537]\|not provided [RCV001882611]	Chr4:83284800 [GRCh38] Chr4:84205953 [GRCh37] Chr4:4q21.23	likely pathogenic\|uncertain significance
NM_001358921.2(COQ2):c.254-220_254-219dup	duplication	not provided [RCV001655508]	Chr4:83279332..83279333 [GRCh38] Chr4:84200485..84200486 [GRCh37] Chr4:4q21.23	benign
NM_001358921.2(COQ2):c.762+35T>C	single nucleotide variant	not provided [RCV001608488]	Chr4:83269825 [GRCh38] Chr4:84190978 [GRCh37] Chr4:4q21.23	benign
NM_001358921.2(COQ2):c.763-92_763-91dup	duplication	not provided [RCV001598563]	Chr4:83267859..83267860 [GRCh38] Chr4:84189012..84189013 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.1A>G (p.Met1Val)	single nucleotide variant	not provided [RCV001570181]	Chr4:83284764 [GRCh38] Chr4:84205917 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.253+203G>A	single nucleotide variant	not provided [RCV001552562]	Chr4:83284309 [GRCh38] Chr4:84205462 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.542+335T>C	single nucleotide variant	not provided [RCV001559497]	Chr4:83273161 [GRCh38] Chr4:84194314 [GRCh37] Chr4:4q21.23	likely benign
GRCh37/hg19 4q21.23(chr4:84142481-84840424)x3	copy number gain	not provided [RCV002473659]	Chr4:84142481..84840424 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.508G>A (p.Ala170Thr)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV001030009]	Chr4:83273530 [GRCh38] Chr4:84194683 [GRCh37] Chr4:4q21.23	uncertain significance
NM_015697.9(COQ2):c.-131A>G	single nucleotide variant	not provided [RCV001581922]	Chr4:83285045 [GRCh38] Chr4:84206198 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.763-92dup	duplication	not provided [RCV001688980]	Chr4:83267859..83267860 [GRCh38] Chr4:84189012..84189013 [GRCh37] Chr4:4q21.23	benign
NM_001358921.2(COQ2):c.763-75G>C	single nucleotide variant	not provided [RCV001686323]	Chr4:83267849 [GRCh38] Chr4:84189002 [GRCh37] Chr4:4q21.23	benign
NM_001358921.2(COQ2):c.421-135T>C	single nucleotide variant	not provided [RCV001586907]	Chr4:83273752 [GRCh38] Chr4:84194905 [GRCh37] Chr4:4q21.23	likely benign
NM_015697.9(COQ2):c.85G>T (p.Gly29Cys)	single nucleotide variant	not provided [RCV001638295]	Chr4:83284830 [GRCh38] Chr4:84205983 [GRCh37] Chr4:4q21.23	benign
GRCh37/hg19 4q21.22-21.23(chr4:84053945-85081980)x3	copy number gain	See cases [RCV001194563]	Chr4:84053945..85081980 [GRCh37] Chr4:4q21.22-21.23	uncertain significance
Single allele	deletion	Chromosome 4q21 deletion syndrome [RCV001172266]	Chr4:83196931..85540706 [GRCh37] Chr4:4q21.22-21.23	pathogenic
NM_001358921.2(COQ2):c.254-186_254-183del	microsatellite	not provided [RCV001650082]	Chr4:83279297..83279300 [GRCh38] Chr4:84200450..84200453 [GRCh37] Chr4:4q21.23	benign
NM_001358921.2(COQ2):c.628+277G>C	single nucleotide variant	not provided [RCV001691193]	Chr4:83271810 [GRCh38] Chr4:84192963 [GRCh37] Chr4:4q21.23	benign
NM_001358921.2(COQ2):c.542+285G>A	single nucleotide variant	not provided [RCV001566190]	Chr4:83273211 [GRCh38] Chr4:84194364 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.253+43del	deletion	not provided [RCV001574866]	Chr4:83284469 [GRCh38] Chr4:84205622 [GRCh37] Chr4:4q21.23	likely benign
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	copy number loss	See cases [RCV001263040]	Chr4:71412409..87920784 [GRCh37] Chr4:4q13.3-21.3	pathogenic
NM_001358921.2(COQ2):c.246G>A (p.Lys82=)	single nucleotide variant	not provided [RCV001312042]	Chr4:83284519 [GRCh38] Chr4:84205672 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV001333879]\|Coenzyme Q10 deficiency, primary, 1 [RCV002493730]	Chr4:83267648 [GRCh38] Chr4:84188801 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.663G>A (p.Trp221Ter)	single nucleotide variant	Multiple system atrophy [RCV001333884]	Chr4:83269959 [GRCh38] Chr4:84191112 [GRCh37] Chr4:4q21.23	pathogenic
NM_001358921.2(COQ2):c.967del (p.Ile323fs)	deletion	Coenzyme Q10 deficiency, primary 1 [RCV001333881]	Chr4:83264348 [GRCh38] Chr4:84185501 [GRCh37] Chr4:4q21.23	pathogenic
NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV001333880]\|Coenzyme Q10 deficiency, primary, 1 [RCV002499655]\|not provided [RCV001871853]	Chr4:83267612 [GRCh38] Chr4:84188765 [GRCh37] Chr4:4q21.23	uncertain significance
NM_015697.9(COQ2):c.97C>T (p.His33Tyr)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV001328922]	Chr4:83284818 [GRCh38] Chr4:84205971 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.44C>G (p.Ala15Gly)	single nucleotide variant	not provided [RCV001354746]	Chr4:83284721 [GRCh38] Chr4:84205874 [GRCh37] Chr4:4q21.23	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001358921.2(COQ2):c.762+112A>G	single nucleotide variant	not provided [RCV001616793]	Chr4:83269748 [GRCh38] Chr4:84190901 [GRCh37] Chr4:4q21.23	benign
NM_001358921.2(COQ2):c.254-97T>C	single nucleotide variant	not provided [RCV001590694]	Chr4:83279211 [GRCh38] Chr4:84200364 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.253+47T>G	single nucleotide variant	not provided [RCV001717118]	Chr4:83284465 [GRCh38] Chr4:84205618 [GRCh37] Chr4:4q21.23	benign
NM_001358921.2(COQ2):c.57G>A (p.Ala19=)	single nucleotide variant	not provided [RCV001503571]	Chr4:83284708 [GRCh38] Chr4:84205861 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.809G>A (p.Arg270Gln)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002502054]\|not provided [RCV002244468]	Chr4:83267728 [GRCh38] Chr4:84188881 [GRCh37] Chr4:4q21.23	uncertain significance
NM_015697.9(COQ2):c.103T>G (p.Cys35Gly)	single nucleotide variant	Multiple system atrophy [RCV001771729]	Chr4:83284812 [GRCh38] Chr4:84205965 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.762+1G>T	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV001780862]	Chr4:83269859 [GRCh38] Chr4:84191012 [GRCh37] Chr4:4q21.23	likely pathogenic
NM_001358921.2(COQ2):c.420+2T>A	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV001780861]	Chr4:83278946 [GRCh38] Chr4:84200099 [GRCh37] Chr4:4q21.23	likely pathogenic
NM_001358921.2(COQ2):c.676G>T (p.Gly226Cys)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002506934]\|not provided [RCV001875007]	Chr4:83269946 [GRCh38] Chr4:84191099 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.368G>A (p.Arg123His)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002506861]\|not provided [RCV001837084]	Chr4:83279000 [GRCh38] Chr4:84200153 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.1038G>T (p.Gly346=)	single nucleotide variant	not provided [RCV001930137]	Chr4:83264277 [GRCh38] Chr4:84185430 [GRCh37] Chr4:4q21.23	uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	copy number gain	not provided [RCV001827738]	Chr4:52866944..143582507 [GRCh37] Chr4:4q12-31.21	pathogenic
NM_001358921.2(COQ2):c.182C>T (p.Ala61Val)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002486528]\|not provided [RCV002008332]	Chr4:83284583 [GRCh38] Chr4:84205736 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.89C>T (p.Ala30Val)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002498044]\|not provided [RCV002043124]	Chr4:83284676 [GRCh38] Chr4:84205829 [GRCh37] Chr4:4q21.23	uncertain significance
NM_015697.9(COQ2):c.83C>A (p.Ala28Glu)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002503400]\|not provided [RCV001864084]	Chr4:83284832 [GRCh38] Chr4:84205985 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.491G>A (p.Gly164Glu)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV001333883]	Chr4:83273547 [GRCh38] Chr4:84194700 [GRCh37] Chr4:4q21.23	uncertain significance
GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	copy number gain	not specified [RCV002053429]	Chr4:75737340..91131156 [GRCh37] Chr4:4q13.3-22.1	pathogenic
NM_001358921.2(COQ2):c.188T>C (p.Val63Ala)	single nucleotide variant	not provided [RCV001889578]	Chr4:83284577 [GRCh38] Chr4:84205730 [GRCh37] Chr4:4q21.23	uncertain significance
GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	copy number loss	not specified [RCV002053432]	Chr4:79780152..94873225 [GRCh37] Chr4:4q21.21-22.2	pathogenic
NM_001358921.2(COQ2):c.451G>A (p.Ala151Thr)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002497855]\|not provided [RCV002004606]	Chr4:83273587 [GRCh38] Chr4:84194740 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.26dup (p.Ala10fs)	duplication	Nephrotic syndrome [RCV001849671]	Chr4:83284738..83284739 [GRCh38] Chr4:84205891..84205892 [GRCh37] Chr4:4q21.23	likely pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	copy number loss	not specified [RCV002053435]	Chr4:81054789..90667421 [GRCh37] Chr4:4q21.21-22.1	pathogenic
NM_001358921.2(COQ2):c.11C>G (p.Ser4Trp)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002507798]\|not provided [RCV002043355]	Chr4:83284754 [GRCh38] Chr4:84205907 [GRCh37] Chr4:4q21.23	uncertain significance
GRCh37/hg19 4q21.23(chr4:84134525-84984297)	copy number loss	not specified [RCV002053438]	Chr4:84134525..84984297 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.254-5C>G	single nucleotide variant	not provided [RCV001910413]	Chr4:83279119 [GRCh38] Chr4:84200272 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.962T>A (p.Leu321Gln)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV001824233]	Chr4:83264353 [GRCh38] Chr4:84185506 [GRCh37] Chr4:4q21.23	likely pathogenic
NM_001358921.2(COQ2):c.542G>T (p.Ser181Ile)	single nucleotide variant	not provided [RCV001943985]	Chr4:83273496 [GRCh38] Chr4:84194649 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.133C>T (p.Pro45Ser)	single nucleotide variant	not provided [RCV001886389]	Chr4:83284632 [GRCh38] Chr4:84205785 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.17C>T (p.Ala6Val)	single nucleotide variant	not provided [RCV001888230]	Chr4:83284748 [GRCh38] Chr4:84205901 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.-17C>T	single nucleotide variant	not provided [RCV001961869]	Chr4:83284781 [GRCh38] Chr4:84205934 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.284G>A (p.Trp95Ter)	single nucleotide variant	not provided [RCV001941569]	Chr4:83279084 [GRCh38] Chr4:84200237 [GRCh37] Chr4:4q21.23	pathogenic
NM_015697.9(COQ2):c.34G>A (p.Gly12Ser)	single nucleotide variant	not provided [RCV001901024]	Chr4:83284881 [GRCh38] Chr4:84206034 [GRCh37] Chr4:4q21.23	uncertain significance
NM_015697.9(COQ2):c.65G>A (p.Arg22Lys)	single nucleotide variant	not provided [RCV001987428]	Chr4:83284850 [GRCh38] Chr4:84206003 [GRCh37] Chr4:4q21.23	uncertain significance
NM_015697.9(COQ2):c.57G>T (p.Gln19His)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002489979]\|not provided [RCV001903950]	Chr4:83284858 [GRCh38] Chr4:84206011 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.1007A>G (p.Asn336Ser)	single nucleotide variant	not provided [RCV001867678]	Chr4:83264308 [GRCh38] Chr4:84185461 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.830C>T (p.Pro277Leu)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002482674]\|not provided [RCV001881390]	Chr4:83267707 [GRCh38] Chr4:84188860 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.86T>G (p.Phe29Cys)	single nucleotide variant	not provided [RCV002017075]	Chr4:83284679 [GRCh38] Chr4:84205832 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.1012A>G (p.Thr338Ala)	single nucleotide variant	not provided [RCV001977243]	Chr4:83264303 [GRCh38] Chr4:84185456 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.730A>T (p.Thr244Ser)	single nucleotide variant	not provided [RCV002018735]	Chr4:83269892 [GRCh38] Chr4:84191045 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.20C>T (p.Ala7Val)	single nucleotide variant	not provided [RCV001925747]	Chr4:83284745 [GRCh38] Chr4:84205898 [GRCh37] Chr4:4q21.23	uncertain significance
NM_015697.9(COQ2):c.61G>A (p.Gly21Ser)	single nucleotide variant	not provided [RCV001944579]	Chr4:83284854 [GRCh38] Chr4:84206007 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.917C>T (p.Ala306Val)	single nucleotide variant	not provided [RCV001979312]	Chr4:83267620 [GRCh38] Chr4:84188773 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.813C>T (p.Phe271=)	single nucleotide variant	not provided [RCV002105299]	Chr4:83267724 [GRCh38] Chr4:84188877 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.339C>G (p.Ser113=)	single nucleotide variant	not provided [RCV002090709]	Chr4:83279029 [GRCh38] Chr4:84200182 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.831G>A (p.Pro277=)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002507995]\|not provided [RCV002109831]	Chr4:83267706 [GRCh38] Chr4:84188859 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.918C>A (p.Ala306=)	single nucleotide variant	not provided [RCV002110215]	Chr4:83267619 [GRCh38] Chr4:84188772 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.798A>C (p.Ser266=)	single nucleotide variant	not provided [RCV002074902]	Chr4:83267739 [GRCh38] Chr4:84188892 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.723T>C (p.Val241=)	single nucleotide variant	not provided [RCV002110792]	Chr4:83269899 [GRCh38] Chr4:84191052 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.543-12T>C	single nucleotide variant	not provided [RCV002166355]	Chr4:83272184 [GRCh38] Chr4:84193337 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.885G>A (p.Val295=)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002507991]\|not provided [RCV002115536]	Chr4:83267652 [GRCh38] Chr4:84188805 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.966C>T (p.Asp322=)	single nucleotide variant	not provided [RCV002090936]	Chr4:83264349 [GRCh38] Chr4:84185502 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.542+12G>A	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002505798]\|not provided [RCV002153176]	Chr4:83273484 [GRCh38] Chr4:84194637 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.912C>T (p.Tyr304=)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002494502]\|not provided [RCV002175695]	Chr4:83267625 [GRCh38] Chr4:84188778 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.629-19T>C	single nucleotide variant	not provided [RCV002084035]	Chr4:83270012 [GRCh38] Chr4:84191165 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.238T>C (p.Leu80=)	single nucleotide variant	not provided [RCV002141914]	Chr4:83284527 [GRCh38] Chr4:84205680 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.222C>T (p.Tyr74=)	single nucleotide variant	not provided [RCV002163391]	Chr4:83284543 [GRCh38] Chr4:84205696 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.629-11G>T	single nucleotide variant	not provided [RCV002142340]	Chr4:83270004 [GRCh38] Chr4:84191157 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.336C>G (p.Leu112=)	single nucleotide variant	not provided [RCV002216600]	Chr4:83279032 [GRCh38] Chr4:84200185 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.628+9_628+10insAA	insertion	not provided [RCV002156011]	Chr4:83272077..83272078 [GRCh38] Chr4:84193230..84193231 [GRCh37] Chr4:4q21.23	likely benign
NM_001358921.2(COQ2):c.71G>A (p.Trp24Ter)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002505910]\|not provided [RCV002269778]	Chr4:83284694 [GRCh38] Chr4:84205847 [GRCh37] Chr4:4q21.23	likely pathogenic
NM_015697.9(COQ2):c.34G>C (p.Gly12Arg)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002502082]\|not provided [RCV002265138]	Chr4:83284881 [GRCh38] Chr4:84206034 [GRCh37] Chr4:4q21.23	uncertain significance
GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	copy number loss	not provided [RCV001829208]	Chr4:80467886..93362064 [GRCh37] Chr4:4q21.21-22.1	pathogenic
NM_015697.9(COQ2):c.94G>A (p.Ala32Thr)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV002482643]\|not provided [RCV001897275]	Chr4:83284821 [GRCh38] Chr4:84205974 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.541A>C (p.Ser181Arg)	single nucleotide variant	not provided [RCV001917364]	Chr4:83273497 [GRCh38] Chr4:84194650 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.171T>C (p.Ser57=)	single nucleotide variant	not provided [RCV002076989]	Chr4:83284594 [GRCh38] Chr4:84205747 [GRCh37] Chr4:4q21.23	likely benign
GRCh37/hg19 4q21.22-21.23(chr4:84048377-84744105)x1	copy number loss	See cases [RCV002287566]	Chr4:84048377..84744105 [GRCh37] Chr4:4q21.22-21.23	pathogenic
NM_001358921.2(COQ2):c.739T>C (p.Tyr247His)	single nucleotide variant	Kidney disease [RCV002294609]	Chr4:83269883 [GRCh38] Chr4:84191036 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.951+8C>G	single nucleotide variant	Kidney disease [RCV002294678]	Chr4:83267578 [GRCh38] Chr4:84188731 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.706C>T (p.Leu236Phe)	single nucleotide variant	not provided [RCV002505961]	Chr4:83269916 [GRCh38] Chr4:84191069 [GRCh37]	uncertain significance
NM_001358921.2(COQ2):c.1109A>G (p.Glu370Gly)	single nucleotide variant	not provided [RCV002304753]	Chr4:83264206 [GRCh38] Chr4:84185359 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.744T>A (p.Asp248Glu)	single nucleotide variant	not provided [RCV002304908]	Chr4:83269878 [GRCh38] Chr4:84191031 [GRCh37] Chr4:4q21.23	uncertain significance
NM_001358921.2(COQ2):c.731C>T (p.Thr244Ile)	single nucleotide variant	not provided [RCV002505962]	Chr4:83269891 [GRCh38] Chr4:84191044 [GRCh37]	uncertain significance

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR99A	hsa-miR-99a-5p	Tarbase	external_info	Sequencing	POSITIVE

Predicted Target Of

	Summary Value
Count of predictions:	1016
Count of miRNA genes:	525
Interacting mature miRNAs:	569
Transcripts:	ENST00000311461, ENST00000311469, ENST00000439031, ENST00000503391, ENST00000503915, ENST00000514935
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

STS-N34312

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	84,185,048 - 84,185,179	UniSTS	GRCh37
Build 36	4	84,404,072 - 84,404,203	RGD	NCBI36
Celera	4	81,475,494 - 81,475,625	RGD
Cytogenetic Map	4	q21.23	UniSTS
HuRef	4	79,928,047 - 79,928,178	UniSTS
TNG Radiation Hybrid Map	4	49938.0	UniSTS
GeneMap99-GB4 RH Map	4	444.68	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

241

147

376

713

1111

366

146

135

409

403

643

Low

2198

2825

1349

537

1232

391

3246

1817

3554

283

1051

1210

148

1184

2145

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_015825	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001358921	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_015697	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA825250	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC073840	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC114781	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF091086	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ621061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK023076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK129583	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300972	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008804	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC020728	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC116454	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG699931	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM126596	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ363759	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456860	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU877220	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000311461 ⟹ ENSP00000311835

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	4	83,266,697 - 83,284,765 (-)	Ensembl

RefSeq Acc Id:

ENST00000311469 ⟹ ENSP00000310873

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	4	83,263,826 - 83,284,914 (-)	Ensembl

RefSeq Acc Id:

ENST00000503391 ⟹ ENSP00000426242

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	4	83,261,536 - 83,284,795 (-)	Ensembl

RefSeq Acc Id:

ENST00000503915 ⟹ ENSP00000427146

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	4	83,263,824 - 83,279,058 (-)	Ensembl

RefSeq Acc Id:

ENST00000514935

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	4	83,273,543 - 83,281,596 (-)	Ensembl

RefSeq Acc Id:

ENST00000647002 ⟹ ENSP00000495761

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	4	83,263,824 - 83,284,798 (-)	Ensembl

RefSeq Acc Id:

NM_001358921 ⟹ NP_001345850

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	83,263,824 - 83,284,798 (-)	NCBI
T2T-CHM13v2.0	4	86,593,916 - 86,614,894 (-)	NCBI

Sequence:

show sequence

GTCAATCCGAGCTCGTCCCGGCCTCACCAGCGCCATGCTGGGCTCGCGAGCCGCGGGGTTCGCG
CGGGGCCTGCGGGCTGTGGCACTGGCGTGGCTGCCGGGCTGGCGGGGCCGCTCCTTCGCCCTGG
CGCGTGCGGCAGGCGCGCCCCACGGTGGTGACTTGCAGCCCCCCGCCTGTCCCGAGCCGCGCGG
GCGCCAGCTCAGTTTGTCCGCGGCGGCGGTGGTGGACTCTGCGCCCCGCCCCCTGCAGCCGTAC
TTGCGCCTCATGCGGTTGGACAAGCCCATTGGAACCTGGCTTCTGTATTTACCATGTACCTGGA
GCATTGGTTTGGCAGCTGAACCAGGTTGTTTTCCAGATTGGTACATGCTCTCCCTCTTTGGCAC
TGGAGCTATTCTGATGCGTGGAGCAGGCTGTACTATTAATGACATGTGGGACCAGGACTATGAT
AAAAAGGTTACAAGAACAGCCAATCGTCCAATAGCCGCTGGAGACATTTCAACTTTTCAGTCCT
TTGTTTTTCTTGGGGGACAGCTAACCCTGGCACTGGGTGTTCTTCTGTGTCTAAATTACTACAG
TATAGCTCTGGGAGCAGGATCCTTACTTCTTGTCATCACCTACCCACTAATGAAAAGAATTTCA
TACTGGCCTCAACTAGCCTTGGGCTTGACATTTAATTGGGGAGCGTTACTTGGATGGTCTGCTA
TCAAGGGTTCCTGTGATCCATCTGTTTGCCTGCCTCTTTATTTTTCTGGAGTTATGTGGACACT
AATATATGATACTATTTATGCCCATCAGGACAAAAGAGATGATGTTTTGATTGGTCTTAAGTCA
ACGGCTCTGCGGTTCGGAGAAAATACCAAGCCGTGGCTCAGCGGCTTCAGTGTTGCAATGCTGG
GGGCACTGAGCCTAGTGGGTGTGAACAGTGGACAGACTGCTCCCTACTACGCTGCCCTGGGTGC
TGTAGGAGCCCATCTGACTCACCAGATTTACACTCTAGACATCCACAGACCTGAGGATTGTTGG
AATAAATTTATCTCCAACCGAACACTGGGACTAATAGTTTTTTTAGGGATTGTCCTTGGGAATT
TGTGGAAAGAAAAGAAGACAGACAAAACAAAGAAGGGTATAGAGAATAAAATAGAAAATTAATG
AATGAAATTTATCTAGGAATTTTTAAAACATTTTTTACAAAATATAATTAGATTTGAATACAAA
ATCTGATACAATATGTTAAAGAATTAAGAACCTGAAGATGAAGATTTAGAGCATATTTACCTGG
ATTTTACTTATTTGCTAGCAAAATTCCCCCTTGTCACAGAAACCAGGGACTCTTCAGGATTTGA
GATGGCCTTGAGTATTTTAGTTGATACATTCTTCTGCCCATTATAATTCTCACCTGAAGTTATG
GGGATTGCACGGGTTTTGGCACTTTAGAAAAAGCCTGATGTGGGTCTTACATAAATGAATGTCT
GTATAAGAAAATGGACTCTTTTTTTTAGGGAAAAATAAAAGCAACTATGGGAA

hide sequence

RefSeq Acc Id:

NM_015697 ⟹ NP_056512

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	83,263,824 - 83,285,134 (-)	NCBI
GRCh37	4	84,184,972 - 84,206,067 (-)	NCBI
Build 36	4	84,404,001 - 84,424,988 (-)	NCBI Archive
HuRef	4	79,927,976 - 79,949,127 (-)	ENTREZGENE
CHM1_1	4	84,161,731 - 84,182,795 (-)	NCBI
T2T-CHM13v2.0	4	86,593,916 - 86,615,230 (-)	NCBI

Sequence:

show sequence

GGAACACTTATTCTATTTTACAGAATAAGGTGTTGCCCGATTCTATTTTTTGTTTGTTTCCTCA
GAGACCCCGTTCTGAGTGTTGCCCGATAATGGAACCACAAAGTCAATCAAGATCGAGTTGTAAA
AAATTACAACTAAATTTATTGTAATTTTTTTGCCTTTTGCCAATAGAAATCCCTTTTTCATTAA
GTATTCCTCCCTAGAGTAAGCGACCACGATGACCCCAATTTCACAAGTAAGGATGAGGAAAGGT
TCTGCCCACACCGCCGCCCAGCCTGGCAGACTAGGATTGCATCCTGCGGGTGCCACTGCGCATG
CCTGCCGGGGAATGACGTCAATCCGAGCTCGTCCCGGCCTCACCAGCGCCATGCTGGGCTCGCG
AGCCGCGGGGTTCGCGCGGGGCCTGCGGGCTGTGGCACTGGCGTGGCTGCCGGGCTGGCGGGGC
CGCTCCTTCGCCCTGGCGCGTGCGGCAGGCGCGCCCCACGGTGGTGACTTGCAGCCCCCCGCCT
GTCCCGAGCCGCGCGGGCGCCAGCTCAGTTTGTCCGCGGCGGCGGTGGTGGACTCTGCGCCCCG
CCCCCTGCAGCCGTACTTGCGCCTCATGCGGTTGGACAAGCCCATTGGAACCTGGCTTCTGTAT
TTACCATGTACCTGGAGCATTGGTTTGGCAGCTGAACCAGGTTGTTTTCCAGATTGGTACATGC
TCTCCCTCTTTGGCACTGGAGCTATTCTGATGCGTGGAGCAGGCTGTACTATTAATGACATGTG
GGACCAGGACTATGATAAAAAGGTTACAAGAACAGCCAATCGTCCAATAGCCGCTGGAGACATT
TCAACTTTTCAGTCCTTTGTTTTTCTTGGGGGACAGCTAACCCTGGCACTGGGTGTTCTTCTGT
GTCTAAATTACTACAGTATAGCTCTGGGAGCAGGATCCTTACTTCTTGTCATCACCTACCCACT
AATGAAAAGAATTTCATACTGGCCTCAACTAGCCTTGGGCTTGACATTTAATTGGGGAGCGTTA
CTTGGATGGTCTGCTATCAAGGGTTCCTGTGATCCATCTGTTTGCCTGCCTCTTTATTTTTCTG
GAGTTATGTGGACACTAATATATGATACTATTTATGCCCATCAGGACAAAAGAGATGATGTTTT
GATTGGTCTTAAGTCAACGGCTCTGCGGTTCGGAGAAAATACCAAGCCGTGGCTCAGCGGCTTC
AGTGTTGCAATGCTGGGGGCACTGAGCCTAGTGGGTGTGAACAGTGGACAGACTGCTCCCTACT
ACGCTGCCCTGGGTGCTGTAGGAGCCCATCTGACTCACCAGATTTACACTCTAGACATCCACAG
ACCTGAGGATTGTTGGAATAAATTTATCTCCAACCGAACACTGGGACTAATAGTTTTTTTAGGG
ATTGTCCTTGGGAATTTGTGGAAAGAAAAGAAGACAGACAAAACAAAGAAGGGTATAGAGAATA
AAATAGAAAATTAATGAATGAAATTTATCTAGGAATTTTTAAAACATTTTTTACAAAATATAAT
TAGATTTGAATACAAAATCTGATACAATATGTTAAAGAATTAAGAACCTGAAGATGAAGATTTA
GAGCATATTTACCTGGATTTTACTTATTTGCTAGCAAAATTCCCCCTTGTCACAGAAACCAGGG
ACTCTTCAGGATTTGAGATGGCCTTGAGTATTTTAGTTGATACATTCTTCTGCCCATTATAATT
CTCACCTGAAGTTATGGGGATTGCACGGGTTTTGGCACTTTAGAAAAAGCCTGATGTGGGTCTT
ACATAAATGAATGTCTGTATAAGAAAATGGACTCTTTTTTTTAGGGAAAAATAAAAGCAACTAT
GGGAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001345850	(Get FASTA)	NCBI Sequence Viewer
	NP_056512	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC72955	(Get FASTA)	NCBI Sequence Viewer
	AAH08804	(Get FASTA)	NCBI Sequence Viewer
	AAH20728	(Get FASTA)	NCBI Sequence Viewer
	AAI16455	(Get FASTA)	NCBI Sequence Viewer
	AOT85942	(Get FASTA)	NCBI Sequence Viewer
	BAG62595	(Get FASTA)	NCBI Sequence Viewer
	CAF18241	(Get FASTA)	NCBI Sequence Viewer
	CAG33141	(Get FASTA)	NCBI Sequence Viewer
	EAX05927	(Get FASTA)	NCBI Sequence Viewer
	EAX05928	(Get FASTA)	NCBI Sequence Viewer
	EAX05929	(Get FASTA)	NCBI Sequence Viewer
	EAX05930	(Get FASTA)	NCBI Sequence Viewer
	Q96H96	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_056512 ⟸ NM_015697
- Peptide Label:	isoform 1
- UniProtKB:	Q96H96 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MTPISQVRMRKGSAHTAAQPGRLGLHPAGATAHACRGMTSIRARPGLTSAMLGSRAAGFARGLR AVALAWLPGWRGRSFALARAAGAPHGGDLQPPACPEPRGRQLSLSAAAVVDSAPRPLQPYLRLM RLDKPIGTWLLYLPCTWSIGLAAEPGCFPDWYMLSLFGTGAILMRGAGCTINDMWDQDYDKKVT RTANRPIAAGDISTFQSFVFLGGQLTLALGVLLCLNYYSIALGAGSLLLVITYPLMKRISYWPQ LALGLTFNWGALLGWSAIKGSCDPSVCLPLYFSGVMWTLIYDTIYAHQDKRDDVLIGLKSTALR FGENTKPWLSGFSVAMLGALSLVGVNSGQTAPYYAALGAVGAHLTHQIYTLDIHRPEDCWNKFI SNRTLGLIVFLGIVLGNLWKEKKTDKTKKGIENKIEN hide sequence

RefSeq Acc Id:	NP_001345850 ⟸ NM_001358921
- Peptide Label:	isoform 2
- UniProtKB:	Q684R2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLGSRAAGFARGLRAVALAWLPGWRGRSFALARAAGAPHGGDLQPPACPEPRGRQLSLSAAAVV DSAPRPLQPYLRLMRLDKPIGTWLLYLPCTWSIGLAAEPGCFPDWYMLSLFGTGAILMRGAGCT INDMWDQDYDKKVTRTANRPIAAGDISTFQSFVFLGGQLTLALGVLLCLNYYSIALGAGSLLLV ITYPLMKRISYWPQLALGLTFNWGALLGWSAIKGSCDPSVCLPLYFSGVMWTLIYDTIYAHQDK RDDVLIGLKSTALRFGENTKPWLSGFSVAMLGALSLVGVNSGQTAPYYAALGAVGAHLTHQIYT LDIHRPEDCWNKFISNRTLGLIVFLGIVLGNLWKEKKTDKTKKGIENKIEN hide sequence

RefSeq Acc Id:

ENSP00000426242 ⟸ ENST00000503391

RefSeq Acc Id:

ENSP00000427146 ⟸ ENST00000503915

RefSeq Acc Id:

ENSP00000310873 ⟸ ENST00000311469

RefSeq Acc Id:

ENSP00000311835 ⟸ ENST00000311461

RefSeq Acc Id:

ENSP00000495761 ⟸ ENST00000647002

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96H96-F1-model_v2	AlphaFold	Q96H96	1-371	view protein structure

Promoters

RGD ID:

6867884

Promoter ID:

EPDNEW_H7107

Type:

multiple initiation site

Name:

COQ2_1

Description:

coenzyme Q2, polyprenyltransferase

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	83,285,134 - 83,285,194	EPDNEW

RGD ID:

6802133

Promoter ID:

HG_KWN:48628

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

UC003HOG.1, UC003HOH.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	84,424,679 - 84,425,179 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25223	AgrOrtholog
COSMIC	COQ2	COSMIC
Ensembl Genes	ENSG00000173085	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000310873	ENTREZGENE
	ENSP00000310873.4	UniProtKB/Swiss-Prot
	ENSP00000311835.7	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSP00000426242.1	UniProtKB/TrEMBL
	ENSP00000427146.1	UniProtKB/TrEMBL
	ENSP00000495761	ENTREZGENE
	ENSP00000495761.2	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000311461.7	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENST00000311469	ENTREZGENE
	ENST00000311469.9	UniProtKB/Swiss-Prot
	ENST00000503391.5	UniProtKB/TrEMBL
	ENST00000503915.5	UniProtKB/TrEMBL
	ENST00000647002	ENTREZGENE
	ENST00000647002.2	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.357.140	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000173085	GTEx
HGNC ID	HGNC:25223	ENTREZGENE
Human Proteome Map	COQ2	Human Proteome Map
InterPro	HB_polyprenyltransferase-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Prenyltransferase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UbiA_prenyltransferase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UbiA_prenylTrfase_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UbiA_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	27235	ENTREZGENE
OMIM	146500	OMIM
	607426	OMIM
	609825	OMIM
PANTHER	PTHR11048	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	UbiA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA142672084	PharmGKB
PROSITE	UBIA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs	ubiA_proteo	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	COQ2_HUMAN	UniProtKB/Swiss-Prot
	E2QRG7_HUMAN	UniProtKB/TrEMBL
	E7EPM7_HUMAN	UniProtKB/TrEMBL
	H0YAI0_HUMAN	UniProtKB/TrEMBL
	Q684R2	ENTREZGENE
	Q96H96	ENTREZGENE
UniProt Secondary	A0A1D8H0A6	UniProtKB/Swiss-Prot
	O95331	UniProtKB/Swiss-Prot
	Q1JQ78	UniProtKB/Swiss-Prot
	Q684R2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-03-28	COQ2	coenzyme Q2, polyprenyltransferase		coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	Symbol and/or name change	5135510	APPROVED
2013-06-04	COQ2	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase		coenzyme Q2 homolog, prenyltransferase (yeast)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar