Human Gene COQ2 (uc011ccp.2)
  Description: Homo sapiens coenzyme Q2 4-hydroxybenzoate polyprenyltransferase (COQ2), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_015697): 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].
Transcript (Including UTRs)
   Position: hg19 chr4:84,182,689-84,206,067 Size: 23,379 Total Exon Count: 7 Strand: -


Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionOther SpeciesmRNA DescriptionsPathwaysOther Names
GeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:84,182,689-84,206,067)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSEnsemblExonPrimerGeneNetworkH-INVHGNC
LynxMalacardsPubMedWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): COQ2
CDC HuGE Published Literature: COQ2

-  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.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  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).
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

-  Other Names for This Gene
  Alternate Gene Symbols: AK300972
UCSC ID: uc011ccp.2
RefSeq Accession: NM_015697

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

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: yes RNA accession: AK300972.1
exon count: 7CDS single in 3' UTR: no RNA size: 1304
ORF size: 0CDS single in intron: no Alignment % ID: 99.85
txCdsPredict score: 1323.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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