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COQ3 Gene

protein-coding   GIFtS: 55
GCID: GC06M099817

Coenzyme Q3 Methyltransferase

(Previous names: coenzyme Q3 homolog, methyltransferase (yeast), coenzyme...)
  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 Q3 Methyltransferase1 2     DHHBMT2
Polyprenyldihydroxybenzoate Methyltransferase1 2     DHHBMTASE2
Dihydroxyhexaprenylbenzoate Methyltransferase2 3     UG0215E052
2-Polyprenyl-6-Hydroxyphenol Methylase2 3     bA9819.12
3,4-Dihydroxy-5-Hexaprenylbenzoate Methyltransferase2 3     Coenzyme Q3 Homolog, Methyltransferase2
3-Demethylubiquinone-10 3-Methyltransferase2 3     Hexaprenyldihydroxybenzoate Methyltransferase, Mitochondrial2
DHHB-MT2 3     Methyltransferase COQ32
DHHB-MTase2 3     EC 2.1.1.1143
DHHB Methyltransferase2 3     EC 2.1.1.2223
Coenzyme Q3 Homolog, Methyltransferase (S. Cerevisiae)1     EC 2.1.1.643
Coenzyme Q3 Homolog, Methyltransferase (Yeast)1     EC 2.1.18
2-Polyprenyl-6-Hydroxyphenyl Methylase2     

External Ids:    HGNC: 181751   Entrez Gene: 518052   Ensembl: ENSG000001324237   OMIM: 6051965   UniProtKB: Q9NZJ63   

Export aliases for COQ3 gene to outside databases

Previous GC identifers: GC06M099685 GC06M099833 GC06M099862 GC06M099923 GC06M097257


(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 COQ3 Gene:
Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both
eukaryotes and prokaryotes (Jonassen and Clarke, 2000 (PubMed 10777520)). This lipid consists of a hydrophobic
isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is
to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the
respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the
biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate,
3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting
demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic
early intermediate 2-hydroxy-6-polyprenyl phenol.(supplied by OMIM, Mar 2008)

GeneCards Summary for COQ3 Gene:
COQ3 (coenzyme Q3 methyltransferase) is a protein-coding gene. Diseases associated with COQ3 include spina bifida, and intrahepatic cholangiocarcinoma. GO annotations related to this gene include 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity and O-methyltransferase activity.




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the COQ3 gene promoter:
         E2F-3a   E2F-4   E2F-5   E2F-2   CBF-C   CBF-A   E2F   E2F-1   CBF-B   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOQ3 promoter sequence
   Search Chromatin IP Primers for COQ3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COQ3


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

Entrez Gene cytogenetic band: 6q16.2   Ensembl cytogenetic band:  6q16.2   HGNC cytogenetic band: 6q21

COQ3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COQ3 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M099817:  view genomic region     (about GC identifiers)

Start:
99,817,276 bp from pter      End:
99,842,082 bp from pter
Size:
24,807 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: COQ3_HUMAN, Q9NZJ6 (See protein sequence)
Recommended Name: Hexaprenyldihydroxybenzoate methyltransferase, mitochondrial precursor  
Size: 369 amino acids; 41054 Da
Sequence caution: Sequence=AAF66826.1; Type=Frameshift; Positions=16, 18, 22, 26, 44, 49, 60, 363, 364;
Secondary accessions: B3KPX0 Q5T061 Q6P4F0 Q8IXG6 Q96BG1 Q9H0N1

Explore the universe of human proteins at neXtProt for COQ3: NX_Q9NZJ6

Explore proteomics data for COQ3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for COQ3 (Q9NZJ6)
     ILDVGCG  LDVGCGGG 


    See COQ3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_059117.3  
    ENSEMBL proteins: 
     ENSP00000254759   ENSP00000358243   ENSP00000358245  
    Reactome Protein details: Q9NZJ6

    COQ3 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:
     IPR013216 Methyltransf_11
     IPR010233 UbiG_MeTrfase

    Graphical View of Domain Structure for InterPro Entry Q9NZJ6

    ProtoNet protein and cluster: Q9NZJ6

    UniProtKB/Swiss-Prot: COQ3_HUMAN, Q9NZJ6
    Similarity: Belongs to the methyltransferase superfamily. UbiG/COQ3 family


    COQ3 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: COQ3_HUMAN, Q9NZJ6
    Catalytic activity: S-adenosyl-L-methionine + 3,4-dihydroxy-5-all-trans-polyprenylbenzoate =
    S-adenosyl-L-homocysteine + 3-methoxy-4-hydroxy-5-all-trans-polyprenylbenzoate
    Catalytic activity: S-adenosyl-L-methionine + 3-demethylubiquinone-n = S-adenosyl-L-homocysteine + ubiquinone-n
    Catalytic activity: S-adenosyl-L-methionine + 3-(all-trans-polyprenyl)benzene-1,2-diol = S-adenosyl-L-homocysteine
    + 2-methoxy-6-(all-trans-polyprenyl)phenol

         Enzyme Numbers (IUBMB): EC 2.1.12 EC 2.1.1.641 EC 2.1.1.1141 EC 2.1.1.2221

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004395hexaprenyldihydroxybenzoate methyltransferase activity IEA--
    GO:0008168methyltransferase activity ----
    GO:0008171O-methyltransferase activity TAS10777520
    GO:0008276protein methyltransferase activity ----
    GO:00084252-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity IEA--
         
    COQ3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for COQ3:
     Increased gamma-H2AX phosphory  Synthetic lethal with c-Myc af 

         1 MGI phenotypic allele for Coq3 (no phenotypes)

    COQ3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COQ3
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    miRNA
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    miRTarBase miRNAs that target COQ3:
    hsa-mir-16-5p (MIRT051270), hsa-mir-215-5p (MIRT024878), hsa-mir-192-5p (MIRT026203)

    Block miRNA regulation of human, mouse, rat COQ3 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate COQ3:
    hsa-miR-433
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COQ3

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COQ3


    (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
    COQ3_HUMAN, Q9NZJ6: Mitochondrion matrix (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    nucleus2
    peroxisome2
    cytosol1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion RCA10777520
    GO:0005759mitochondrial matrix TAS--

    COQ3 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 COQ3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ubiquinol biosynthesis
    Ubiquinol biosynthesis0.42
    ubiquinol-10 biosynthesis (eukaryotic)0.00
    Ubiquinone and other terpenoid-quinone biosynthesis0.42
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for COQ3
        ubiquinol-10 biosynthesis (eukaryotic)

    1 Reactome Pathway for COQ3
        Ubiquinol biosynthesis


    2 Kegg Pathways  (Kegg details for COQ3):
        Ubiquinone and other terpenoid-quinone biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: COQ3_HUMAN, Q9NZJ6
    Pathway: Cofactor biosynthesis; ubiquinone biosynthesis


    COQ3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COQ3
    Interactions:

        Search GeneGlobe Interaction Network for COQ3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for COQ3 (Q9NZJ63 ENSP000002547594) via UniProtKB, MINT, STRING, and/or I2D (see all 41)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000096171P266403I2D: score=1 
    ENSG00000224264P266403I2D: score=1 
    ENSG00000226589P266403I2D: score=1 
    ENSG00000231116P266403I2D: score=1 
    VARSP266403I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006071glycerol metabolic process IGI10777520
    GO:0006479protein methylation ----
    GO:0006744ubiquinone biosynthetic process TAS--
    GO:0008152metabolic process ----
    GO:0008610lipid biosynthetic process ----

    COQ3 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 COQ3

    8 HMDB Compounds for COQ3    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Hexaprenyl-3-methyl-5-hydroxy-6-methoxy-1,4-benzoquinolDemethyl-ubiquinol-6 ----
    2-Hexaprenyl-3-methyl-5-hydroxy-6-methoxy-1,4-benzoquinone ----
    3-Hexaprenyl-4,5-Dihydroxybenzoic acid3,4-Dihydroxy-5-hexaprenylbenzoate (see all 5)63975-40-6--
    3-Hexaprenyl-4-hydroxy-5-methoxybenzoic acid3-Mhhb (see all 7)66551-60-8--
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--
    Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
    Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--



    (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,
    Conferences by KenesGroup, 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 COQ3 gene: 
    NM_017421.3  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254759(uc003ppk.3) ENST00000369240 ENST00000479163 ENST00000369242

    miRNA
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    Block miRNA regulation of human, mouse, rat COQ3 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate COQ3:
    hsa-miR-433
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat COQ3

    Selected AceView cDNA sequences (see all 102):

    CF122890 BC001534 BM928266 CR607786 CR598978 AL526037 BX089903 CA311870 
    BP338598 BU162712 BE535635 CB120800 BG563457 AK056955 CB147548 BM791496 
    BF725958 BI752416 BU568086 BG033338 CB128192 Z24884 BU683323 BC063463 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for COQ3    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
    SP1:                                -                                                   
    SP2:                                                                                    
    SP3:                                -           -                                       
    SP4:                          -     -                                                   
    SP5:                          -     -     -     -     -     -     -                     


    ECgene alternative splicing isoforms for COQ3

    (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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    COQ3 expression in normal human tissues (normalized intensities)      COQ3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGAAAAGAA
    COQ3 Expression
    About this image


    COQ3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Brain (Nervous System)
             Cerebellum
    COQ3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COQ3 Protein Expression
        Custom PCR Arrays for COQ3
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat COQ3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COQ3

    (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 COQ3 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Coq31 , 5 coenzyme Q3 homolog, methyltransferase (yeast)1, 5 78.56(n)1
    73.02(a)1
      4 (9.11 cM)5
    2300271  NM_172687.11  NP_766275.11 
     218796735 
    chicken
    (Gallus gallus)
    Aves COQ31 coenzyme Q3 homolog, methyltransferase (S. cerevisiae) 70.14(n)
    66.19(a)
      421797  XM_004940359.1  XP_004940416.1 
    lizard
    (Anolis carolinensis)
    Reptilia COQ36
    coenzyme Q3 methyltransferase
    64(a)
    1 ↔ 1
    1(171857651-171863506)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.225482 Xenopus laevis transcribed sequence with weak similarity more 75.27(n)    BX854994.1 
    zebrafish
    (Danio rerio)
    Actinopterygii coq31 coenzyme Q3 homolog, methyltransferase (yeast) 61.15(n)
    61.02(a)
      436893  NM_001002620.2  NP_001002620.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG92491 , 3 ubiquinone metabolism
    hexaprenyldihydroxybenzoate
    more3
    CG92491
    40(a)3
    49.47(n)1
    42.06(a)1
      39A63
    353831  NM_001169558.11  NP_001163029.11 
    worm
    (Caenorhabditis elegans)
    Secernentea coq-31 coq-3 47.68(n)
    43.03(a)
      178403  NM_001047580.2  NP_001041045.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COQ3(YOL096C)4
    COQ31
    O-methyltransferase, catalyzes two different O-methylation more4
    COQ31
    45.49(n)1
    34.76(a)1
      15(139045-138107)4
    8540571, 4  NP_014545.21, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons COQ31 COQ3 51.42(n)
    41.3(a)
      817642  NM_128644.3  NP_180649.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g01523001 Os06g0152300 53.14(n)
    46.03(a)
      4340157  NM_001063370.1  NP_001056835.1 


    ENSEMBL Gene Tree for COQ3 (if available)
    TreeFam Gene Tree for COQ3 (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 COQ3 (see all 639)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1442264691,2
    --99816881(+) GTTTCA/TGTGAG 1 -- ds50010--------
    rs765803271,2
    C--99816922(+) AGCTCA/GGGGAC 1 -- ds50010--------
    rs1930339501,2
    --99817086(+) GATCAC/TGCCAC 1 -- ds50010--------
    rs1487254011,2
    --99817169(+) TATGTA/GTACAT 1 -- ds50010--------
    rs1407054791,2
    C--99817179(+) GCAGA-/ATATATA 1 -- ds50010--------
    rs3688311501,2
    C--99817180(+) TGCAG-/ATTATAT 1 -- ds50010--------
    rs11323631,2
    C--99817347(-) TTGGAA/CAAAAG 1 -- ds5001 ese30--------
    rs2003697521,2
    C--99817419(+) ACATTC/TTTGTA 1 -- ut310--------
    rs716856251,2
    C--99817420(+) ATTTT-/CTGTAT 1 -- ut310--------
    rs791182511,2
    C--99817420(+) CATTTC/TTGTAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for COQ3 (99817276 - 99842082 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for COQ3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv527517CNV Loss19592680
    nsv886439CNV Loss21882294
    nsv886438CNV Gain21882294
    nsv886436CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COQ3
    DNA2.0 Custom Variant and Variant Library Synthesis for COQ3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605196    OMIM disorders: --

    6 diseases for COQ3:    About MalaCards
    spina bifida    intrahepatic cholangiocarcinoma    cholangiocarcinoma    malaria
    thyroiditis    neuronitis


    COQ3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): COQ3
    Human Genome Epidemiology (HuGE) Navigator: COQ3 (2 documents)

    Export disorders for COQ3 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 COQ3 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with COQ3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and functional expression of human COQ3, a gene encoding a methyltransferase required for ubiquinone biosynthesis. (PubMed id 10777520)1, 2, 3, 9 Jonassen T. and Clarke C.F. (J. Biol. Chem. 2000)
    2. 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)
    3. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PubMed id 19161160)1, 4 Franke B....Blom H.J. (Birth Defects Res. Part A Clin. Mol. Teratol. 2009)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    10. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (Biochem. Biophys. Res. Commun. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 51805 HGNC: 18175 AceView: COQ3 Ensembl:ENSG00000132423 euGenes: HUgn51805
    ECgene: COQ3 Kegg: 51805 H-InvDB: COQ3

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for COQ3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COQ3 gene:
    Search GeneIP for patents involving COQ3

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



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