Human Gene COQ2 (ENST00000647002.2)
  Description: Homo sapiens coenzyme Q2, polyprenyltransferase (COQ2), transcript variant 2, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001358921)
RefSeq Summary (NM_001358921): This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009].
Gencode Transcript: ENST00000647002.2
Gencode Gene: ENSG00000173085.15
Transcript (Including UTRs)
   Position: hg38 chr4:83,263,824-83,284,798 Size: 20,975 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr4:83,264,199-83,284,764 Size: 20,566 Coding Exon Count: 7 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsPathwaysOther NamesGeneReviews
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr4:83,263,824-83,284,798)mRNA (may differ from genome)Protein (371 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC

-  MalaCards Disease Associations
  MalaCards Gene Search: COQ2
Diseases sorted by gene-association score: coenzyme q10 deficiency, primary, 1* (1231), multiple system atrophy* (924), coq2-related coenzyme q10 deficiency* (500), coenzyme q10 deficiency disease* (454), aptx-related coenzyme q10 deficiency* (400), leigh syndrome with nephrotic syndrome* (247), multiple system atrophy, cerebellar type* (25), multiple system atrophy, parkinsonian type* (25), retinitis pigmentosa 41 (10), babesiosis (7), mitochondrial encephalomyopathy (5), cerebellar ataxia (4), glutaric acidemia iic (4), leigh syndrome (2), mitochondrial complex i deficiency (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.81 RPKM in Adrenal Gland
Total median expression: 136.04 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -3.3034-0.097 Picture PostScript Text
3' UTR -75.40375-0.201 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Descriptions from all associated GenBank mRNAs
  AK300972 - Homo sapiens cDNA FLJ61421 complete cds, highly similar to Para-hydroxybenzoate--polyprenyltransferase, mitochondrial precursor (EC 2.5.1.-).
BC116454 - Homo sapiens coenzyme Q2 homolog, prenyltransferase (yeast), mRNA (cDNA clone IMAGE:6016926), partial cds.
AF091086 - Homo sapiens clone 640 unknown mRNA, complete sequence.
BC008804 - Homo sapiens coenzyme Q2 homolog, prenyltransferase (yeast), mRNA (cDNA clone MGC:10413 IMAGE:3954787), complete cds.
KU877220 - Homo sapiens coenzyme Q2 mRNA, complete cds.
AK129583 - Homo sapiens cDNA FLJ26072 fis, clone RCT01281.
BC020728 - Homo sapiens coenzyme Q2 homolog, prenyltransferase (yeast), mRNA (cDNA clone MGC:22534 IMAGE:4696019), complete cds.
AJ621061 - Homo sapiens mRNA for para-hydroxybenzoate--polyprenyltransferase, mitochondrial precursor (COQ2 gene).
JD389660 - Sequence 370684 from Patent EP1572962.
JD184699 - Sequence 165723 from Patent EP1572962.
EU176380 - Synthetic construct Homo sapiens clone IMAGE:100006477; FLH188861.01X; RZPDo839F12251D coenzyme Q2 homolog, prenyltransferase (yeast) (COQ2) gene, encodes complete protein.
DQ895928 - Synthetic construct Homo sapiens clone IMAGE:100010388; FLH188854.01L; RZPDo839G1063D coenzyme Q2 homolog, prenyltransferase (yeast) (COQ2) gene, encodes complete protein.
CR456860 - Homo sapiens full open reading frame cDNA clone RZPDo834F0515D for gene CL640, hypothetical protein CL640; complete cds, incl. stopcodon.
AK023076 - Homo sapiens cDNA FLJ13014 fis, clone NT2RP3000592.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00130 - Ubiquinone and other terpenoid-quinone biosynthesis
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-5872 - ubiquinol-10 biosynthesis

-  Other Names for This Gene
  Alternate Gene Symbols: A0A1D8H0A6, ENST00000647002.1, NM_001358921, uc003hog.1, uc003hog.2, uc003hog.3, uc003hog.4, uc003hog.5
UCSC ID: ENST00000647002.2
RefSeq Accession: NM_001358921

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene COQ2:
coq10-def (Primary Coenzyme Q10 Deficiency)
ataxias (Hereditary Ataxia Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.