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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

COQ3 Gene

protein-coding   GIFtS: 58
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)
About This Section

Aliases
Coenzyme Q3 Methyltransferase1 2     DHHBMT2
Polyprenyldihydroxybenzoate Methyltransferase1 2     DHHBMTASE2
Dihydroxyhexaprenylbenzoate Methyltransferase2 3     UG0215E052
2-Polyprenyl-6-Hydroxyphenyl 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

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Metabolic pathways and Ubiquinol biosynthesis. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for COQ3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: COQ3_HUMAN, Q9NZJ6 (See protein sequence)
Recommended Name: Hexaprenyldihydroxybenzoate methyltransferase, mitochondrial precursor  
Size: 369 amino acids; 41054 Da
Subcellular location: Mitochondrion matrix (Probable)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NZJ6

  • 2 DME Specific Peptides for COQ3 (Q9NZJ6)
     ILDVGCG  LDVGCGGG 

    COQ3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COQ3 Protein Expression
    REFSEQ proteins: NP_059117.3  
    ENSEMBL proteins: 
     ENSP00000254759   ENSP00000358243   ENSP00000358245  
    Reactome Protein details: Q9NZJ6
    Human Recombinant Protein Products for COQ3: 
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    Cloud-Clone Corp. Proteins for COQ3 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    COQ3 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for COQ3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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:
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for COQ3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2Ubiquinone and other terpenoid-quinone biosynthesis
    Ubiquinol biosynthesis0.42
    Ubiquinone and other terpenoid-quinone biosynthesis0.42
    3ubiquinol-10 biosynthesis (eukaryotic)
    ubiquinol-10 biosynthesis (eukaryotic)

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    3        Reactome Pathways for COQ3
        Metabolism
    Ubiquinol biosynthesis
    Metabolism of lipids and lipoproteins


    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COQ3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/29 Interacting proteins for COQ3 (Q9NZJ63 ENSP000002547594) via UniProtKB, MINT, STRING, and/or I2D (see all 29)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000096171P266403I2D: score=1 
    ENSG00000226589P266403I2D: score=1 
    VARSP266403I2D: score=1 
    ADCK3Q8NI603, ENSP000003557394I2D: score=1 STRING: ENSP00000355739
    ATP5BP065763, ENSP000002620304I2D: score=1 STRING: ENSP00000262030
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about COQ3

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for COQ3 gene: 
    NM_017421.3  

    Unigene Cluster for COQ3:

    Coenzyme Q3 homolog, methyltransferase (S. cerevisiae)
    Hs.713623  [show with all ESTs]
    Unigene Representative Sequence: BC063463
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254759(uc003ppk.3) ENST00000369240 ENST00000479163 ENST00000369242

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    Additional mRNA sequence: 

    AF351615.1 AK056955.1 AL136726.1 BC001534.1 BC015634.2 BC063463.1 

    11 DOTS entries:

    DT.100776161  DT.100776162  DT.40251488  DT.100776163  DT.86851900  DT.100673222  DT.100023243  DT.99977902 
    DT.100023242  DT.455111  DT.121316076 

    24/102 AceView cDNA sequences (see all 102):

    CF122890 CR607786 BM928266 CR598978 BC001534 BM785516 BX089903 CD692351 
    CB128192 BE535635 AK056955 CB146018 BG033338 NM_017421 BP338598 BI752416 
    BG574909 CB147548 BU162712 BU683323 BU929029 CB120800 BF725958 BG563457 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/23 selected tissues (see all 23) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             skeletal muscle ; myocytes   
             gastrocnemius muscle   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             ovary ; follicle cells   
             oocyte   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   

    See COQ3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COQ3

    SOURCE GeneReport for Unigene cluster: Hs.713623
        SABiosciences Custom PCR Arrays for COQ3
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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for COQ3 gene from 10/23 species (see all 23)    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 78.63(n)1
    73.42(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) 70.02(n)
    66.19(a)
      421797  XM_419824.3  XP_419824.2 
    lizard
    (Anolis carolinensis)
    Reptilia COQ36
    Uncharacterized protein
    65(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 Protein 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
    Coq3p1
    45.95(n)1
    35.14(a)1
      15(139045-138107)4
    8540571, 4  NP_014545.21, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons COQ31 Hexaprenyldihydroxybenzoate methyltransferase 51.42(n)
    41.3(a)
      817642  NM_128644.3  NP_180649.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g01523001 hypothetical protein 53.28(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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/639 SNPs in COQ3 are shown (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

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing COQ3
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    (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.)
    About This Section
    OMIM gene information: 605196    OMIM disorders: --

    3 diseases for COQ3:    About MalaCards
    spina bifida    intrahepatic cholangiocarcinoma    cholangiocarcinoma


    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)
    About This Section

    PubMed articles for COQ3 gene, integrated from 9 sources (see all 12):
    (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. (2000)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (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. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2001)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    9. 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. (2006)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 51805 HGNC: 18175 AceView: COQ3 Ensembl:ENSG00000132423 euGenes: HUgn51805
    ECgene: COQ3 Kegg: 51805 H-InvDB: COQ3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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