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COQ2 Gene

protein-coding   GIFtS: 62
GCID: GC04M084184

Coenzyme Q2 4-Hydroxybenzoate Polyprenyltransferase

(Previous names: coenzyme Q2 homolog, prenyltransferase (yeast))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Coenzyme Q2 4-Hydroxybenzoate Polyprenyltransferase1 2     Coenzyme Q2 Homolog, Prenyltransferase2
CL6402 3     Para-Hydroxybenzoate-Polyprenyltransferase, Mitochondrial2
PHB:polyprenyltransferase2 3     EC 2.5.1.393
COQ10D12 5     Para-hydroxybenzoate--polyprenyltransferase3
MSA12 5     COQ2 Homolog3
4-Hydroxybenzoate Polyprenyltransferase1     hCOQ23
Coenzyme Q2 Homolog, Prenyltransferase (Yeast)1     EC 2.5.18
4-Hydroxybenzoate Polyprenyltransferase, Mitochondrial2     

External Ids:    HGNC: 252231   Entrez Gene: 272352   Ensembl: ENSG000001730857   OMIM: 6098255   UniProtKB: Q96H963   

Export aliases for COQ2 gene to outside databases

Previous GC identifers: GC04M084543 GC04M084404 GC04M079927


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for COQ2 Gene:
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)

GeneCards Summary for COQ2 Gene:
COQ2 (coenzyme Q2 4-hydroxybenzoate polyprenyltransferase) is a protein-coding gene. Diseases associated with COQ2 include coenzyme q10 deficiency disease, and coenzyme q10 deficiency, primary, 1. GO annotations related to this gene include 4-hydroxybenzoate nonaprenyltransferase activity and 4-hydroxybenzoate decaprenyltransferase activity.

UniProtKB/Swiss-Prot: COQ2_HUMAN, Q96H96
Function: Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the
second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the
polyisoprenoid side chain with PHB

Gene Wiki entry for COQ2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the COQ2 gene promoter:
         Nkx3-1   Pax-6   Nkx3-1 v1   Tal-1beta   E47   N-Myc   FOXO4   FOXO1a   Msx-1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOQ2 promoter sequence
   Search Chromatin IP Primers for COQ2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COQ2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q21.23   Ensembl cytogenetic band:  4q21.23   HGNC cytogenetic band: 4q21.23

COQ2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COQ2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M084184:  view genomic region     (about GC identifiers)

Start:
84,182,689 bp from pter      End:
84,206,067 bp from pter
Size:
23,379 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: COQ2_HUMAN, Q96H96 (See protein sequence)
Recommended Name: 4-hydroxybenzoate polyprenyltransferase, mitochondrial precursor  
Size: 371 amino acids; 40489 Da
Sequence caution: Sequence=AAC72955.1; Type=Frameshift; Positions=172; Sequence=AAH20728.2; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=CAF18241.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened;
Secondary accessions: O95331 Q1JQ78 Q684R2
Alternative splicing: 2 isoforms:  Q96H96-1   Q96H96-3   

Explore the universe of human proteins at neXtProt for COQ2: NX_Q96H96

Explore proteomics data for COQ2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys265
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for COQ2 (Q96H96) (see all 9)
     RTANRPI  PIGTWLL  FLGIVLG  RLDKPIG 


    See COQ2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056512.5  
    ENSEMBL proteins: 
     ENSP00000426242   ENSP00000427146   ENSP00000310873   ENSP00000311835   ENSP00000409275  
    Reactome Protein details: Q96H96

    COQ2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR006370 HB_polyprenyl-transferase
     IPR000537 UbiA_prenyltransferase

    Graphical View of Domain Structure for InterPro Entry Q96H96

    ProtoNet protein and cluster: Q96H96

    1 Blocks protein domain: IPB000537 UbiA prenyltransferase

    UniProtKB/Swiss-Prot: COQ2_HUMAN, Q96H96
    Similarity: Belongs to the UbiA prenyltransferase family


    COQ2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COQ2_HUMAN, Q96H96
    Function: Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the
    second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the
    polyisoprenoid side chain with PHB
    Catalytic activity: A polyprenyl diphosphate + 4-hydroxybenzoate = diphosphate + a 4-hydroxy-3-polyprenylbenzoate

         Enzyme Numbers (IUBMB): EC 2.5.1.391 EC 2.5.12

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00020834-hydroxybenzoate decaprenyltransferase activity IEA--
    GO:0004659prenyltransferase activity ----
    GO:00472934-hydroxybenzoate nonaprenyltransferase activity IEA--
         
    COQ2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COQ2
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    miRNA
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    miRTarBase miRNAs that target COQ2:
    hsa-mir-93-5p (MIRT027979), hsa-mir-26b-5p (MIRT028814), hsa-mir-99a-5p (MIRT027397)

    Block miRNA regulation of human, mouse, rat COQ2 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate COQ2:
    hsa-miR-519d hsa-miR-20a hsa-miR-106a hsa-miR-106b hsa-miR-93 hsa-miR-20b hsa-miR-17 hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidCOQ2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat COQ2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COQ2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COQ2_HUMAN, Q96H96: Mitochondrion membrane; Multi-pass membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane3
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion RCA15153069
    GO:0005743mitochondrial inner membrane TAS--
    GO:0016021integral component of membrane RCA15153069

    COQ2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for COQ2 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2Ubiquinol biosynthesis
    Ubiquinol biosynthesis0.42
    Ubiquinone and other terpenoid-quinone biosynthesis0.42
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    4Mitochondrial Protein Import
    Mitochondrial Protein Import

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for COQ2
        Mitochondrial protein import
    Ubiquinol biosynthesis


    2 Kegg Pathways  (Kegg details for COQ2):
        Ubiquinone and other terpenoid-quinone biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: COQ2_HUMAN, Q96H96
    Pathway: Cofactor biosynthesis; ubiquinone biosynthesis


    COQ2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COQ2
    Interactions:

        Search GeneGlobe Interaction Network for COQ2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for COQ2 (Q96H963 ENSP000004092754) via UniProtKB, MINT, STRING, and/or I2D (see all 70)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MMS19Q96T763, ENSP000003598184I2D: score=1 STRING: ENSP00000359818
    IKBKAPO951633, ENSP000003637794I2D: score=1 STRING: ENSP00000363779
    ACO2Q997983, ENSP000002162544I2D: score=1 STRING: ENSP00000216254
    SACM1LQ9NTJ53, ENSP000003737134I2D: score=1 STRING: ENSP00000373713
    IP6K3Q96PC23, ENSP000002937564I2D: score=1 STRING: ENSP00000293756
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006071glycerol metabolic process IGI15153069
    GO:0006744ubiquinone biosynthetic process TAS--
    GO:0008219cell death IEA--
    GO:0008299isoprenoid biosynthetic process IEA--
    GO:0009058biosynthetic process ----

    COQ2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for COQ2

    2 HMDB Compounds for COQ2    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-hexaprenyl-4-hydroxybenzoic acid3-Hexaprenyl-4-hydroxybenzoate (see all 4)65848-03-5--
    4-Hydroxybenzoic acid4-Carboxyphenol (see all 14)99-96-7--

    3 Novoseek inferred chemical compound relationships for COQ2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    coq1 93.1 2 8405427 (1), 16863505 (1)
    coq10 89.4 4 19096106 (1), 17485248 (1)
    ubiquinone 80.5 4 19096106 (1), 17332895 (1), 15153069 (1)

    3 PharmGKB related drug/compound annotations for COQ2 gene    About this table
    Drug/compound PharmGKB Annotation
    atorvastatinCA  
    hmg coa reductase inhibitorsCA  
    rosuvastatinCA  



    COQ2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for COQ2 gene: 
    NM_015697.7  

    Unigene Cluster for COQ2:

    Coenzyme Q2 homolog, prenyltransferase (yeast)
    Hs.144304  [show with all ESTs]
    Unigene Representative Sequence: AK023076
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000503391(uc011ccp.2) ENST00000503915(uc003hof.3) ENST00000311469(uc003hog.3)
    ENST00000311461 ENST00000514935 ENST00000439031
    miRNA
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    8 qRT-PCR Assays for microRNAs that regulate COQ2:
    hsa-miR-519d hsa-miR-20a hsa-miR-106a hsa-miR-106b hsa-miR-93 hsa-miR-20b hsa-miR-17 hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidCOQ2 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat COQ2

    Additional mRNA sequence: AK023076.1 

    1 DOTS entry:

    DT.70101912 

    Selected AceView cDNA sequences (see all 113):

    CR597797 AI141143 CB528537 BX092802 CD674223 N62617 AA027943 CB152084 
    AA825250 CR598020 AW074420 AI300528 AW103157 CR604430 BM126596 BU784581 
    AA761131 BF026793 BX387830 CK906069 BC008804 BU617720 BE735833 BI836783 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for COQ2    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
    SP1:                                                  -               
    SP2:                                                                  
    SP3:                                                                  


    ECgene alternative splicing isoforms for COQ2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    COQ2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTGGTTCT
    COQ2 Expression
    About this image

    COQ2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COQ2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.144304

    UniProtKB/Swiss-Prot: COQ2_HUMAN, Q96H96
    Tissue specificity: Widely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal
    muscle, adrenal glands and the heart

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    QuantiFast Probe-based Assays in human, mouse, rat COQ2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COQ2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for COQ2 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Coq21 , 5 coenzyme Q2 homolog, prenyltransferase (yeast)1, 5 80.44(n)1
    83.24(a)1
      5 (48.50 cM)5
    718831  NM_027978.21  NP_082254.21 
     1006547235 
    chicken
    (Gallus gallus)
    Aves COQ21 coenzyme Q2 homolog, prenyltransferase (yeast) 68.53(n)
    72.27(a)
      422605  XM_420564.4  XP_420564.3 
    lizard
    (Anolis carolinensis)
    Reptilia COQ26
    coenzyme Q2 4-hydroxybenzoate polyprenyltransferas...
    65(a)
    1 ↔ 1
    5(43273674-43291199)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.165652 Xenopus laevis transcribed sequence with weak similarity more 76.33(n)    BJ059744.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.99052 Transcribed sequence with weak similarity to protein more 75.35(n)    BI326122.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Coq21 Coenzyme Q biosynthesis protein 2 58.6(n)
    66.55(a)
      40988  NM_141532.2  NP_649789.1 
    worm
    (Caenorhabditis elegans)
    Secernentea coq-21 coq-2 55.33(n)
    54.08(a)
      175969  NM_181955.4  NP_871684.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COQ2(YNR041C)4
    COQ21
    Para hydroxybenzoate: polyprenyl transferase, catalyzes more4
    COQ21
    50.31(n)1
    47.6(a)1
      14(701659-700541)4
    8557781, 4  NP_014439.31  NP_014439.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PPT11 PPT1 55.81(n)
    58.47(a)
      828466  NM_001203886.1  NP_001190815.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g03226001 Os08g0322600 55.56(n)
    58.25(a)
      4345268  NM_001068074.1  NP_001061539.1 


    ENSEMBL Gene Tree for COQ2 (if available)
    TreeFam Gene Tree for COQ2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for COQ2 (see all 508)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0681624
    Coenzyme Q10 deficiency, primary, 1 (COQ10D1)4--see VAR_0681622 R H mis40--------
    VAR_0702414
    Multiple system atrophy 1 (MSA1)4--see VAR_0702412 S T mis40--------
    VAR_0257014
    Coenzyme Q10 deficiency, primary, 1 (COQ10D1)4--see VAR_0257012 Y C mis40--------
    VAR_0702474
    Multiple system atrophy 1 (MSA1)4--see VAR_0702472 T A mis40--------
    VAR_0702404
    Multiple system atrophy 1 (MSA1)4--see VAR_0702402 P H mis40--------
    VAR_0702394
    Multiple system atrophy 1 (MSA1)4--see VAR_0702392 F L mis40--------
    VAR_0702444
    Multiple system atrophy 1 (MSA1)4--see VAR_0702442 I T mis40--------
    VAR_0702484
    Multiple system atrophy 1 (MSA1)4--see VAR_0702482 S C mis40--------
    VAR_0702434
    Multiple system atrophy 1 (MSA1)4--see VAR_0702432 M V mis40--------
    VAR_0702504
    Multiple system atrophy 1 (MSA1)4--see VAR_0702502 R Q mis40--------

    HapMap Linkage Disequilibrium report for COQ2 (84182689 - 84206067 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for COQ2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829991CNV Loss17160897
    nsv829992CNV Loss17160897
    nsv526041CNV Loss19592680

    Human Gene Mutation Database (HGMD): COQ2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COQ2
    DNA2.0 Custom Variant and Variant Library Synthesis for COQ2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609825   
    OMIM disorders: 607426  146500  
    UniProtKB/Swiss-Prot: COQ2_HUMAN, Q96H96
  • Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]: An autosomal recessive disorder with variable
    manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with
    seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a
    predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an
    isolated myopathic form. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Multiple system atrophy 1 (MSA1) [MIM:146500]: A progressive neurodegenerative disorder clinically
    characterized by parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various
    combinations. Pathologically, it is characterized by degeneration of striatonigral and olivopontocerebellar
    structures, and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein or tau.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • 14 diseases for COQ2:    
    About MalaCards
    coenzyme q10 deficiency disease    coenzyme q10 deficiency, primary, 1    coq2-related coenzyme q10 deficiency    multiple system atrophy, cerebellar type
    encephalomyopathy    multiple system atrophy    multiple system atrophy, parkinsonian type    mitochondrial encephalomyopathy
    cerebellar ataxia    nephrotic syndrome    ataxia    malaria
    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for COQ2:
    Cerebellar ataxia

    COQ2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for COQ2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    coenzyme q10 deficiency 91.6 1 16400613 (1)

    Genetic Association Database (GAD): COQ2
    Human Genome Epidemiology (HuGE) Navigator: COQ2 (2 documents)

    Export disorders for COQ2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for COQ2 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with COQ2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ2. (PubMed id 15153069)1, 2, 3, 9 Forsgren M.... Climent I. (Biochem. J. 2004)
    2. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. (PubMed id 16400613)1, 2, 9 Quinzii C....Hirano M. (Am. J. Hum. Genet. 2006)
    3. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. (PubMed id 17332895)1, 3, 9 Mollet J.... Rotig A. (J. Clin. Invest. 2007)
    4. Mutations in COQ2 in familial and sporadic multiple-system atrophy. (PubMed id 23758206)1, 2 (N. Engl. J. Med. 2013)
    5. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. (PubMed id 20507940)1, 4 Machuca E....Antignac C. (J. Am. Soc. Nephrol. 2010)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. (PubMed id 17855635)1, 2 Diomedi-Camassei F.... Emma F. (J. Am. Soc. Nephrol. 2007)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency. (PubMed id 18230681)1, 9 Quinzii C.M....Hirano M. (FASEB J. 2008)
    10. Human CoQ10 deficiencies. (PubMed id 19096106)1, 9 Quinzii C.M....Hirano M. (Biofactors 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 27235 HGNC: 25223 AceView: CL640 Ensembl:ENSG00000173085 euGenes: HUgn27235
    ECgene: COQ2 Kegg: 27235 H-InvDB: COQ2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for COQ2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COQ2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=COQ2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COQ2 gene:
    Search GeneIP for patents involving COQ2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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