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COQ5 Gene

protein-coding   GIFtS: 55
GCID: GC12M120941

Coenzyme Q5 Homolog, Methyltransferase (S. Cerevisiae)

(Previous names: coenzyme Q5 homolog, methyltransferase (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 Q5 Homolog, Methyltransferase (S. Cerevisiae)1 2     Ubiquinone Biosynthesis Methyltransferase COQ5, Mitochondrial2
2-methoxy-6-polyprenyl-11     EC 2.1.1.2013
4-Benzoquinol Methylase1     Ubiquinone Biosynthesis Methyltransferase COQ53
Coenzyme Q5 Homolog, Methyltransferase (Yeast)1     EC 2.1.18
2-Methoxy-6-Polyprenyl-1,4-Benzoquinol Methylase, Mitochondrial2     EC 2.1.1.528

External Ids:    HGNC: 287221   Entrez Gene: 842742   Ensembl: ENSG000001108717   UniProtKB: Q5HYK33   

Export aliases for COQ5 gene to outside databases

Previous GC identifers: GC12M119404 GC12M117950


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for COQ5 Gene:
COQ5 (coenzyme Q5 homolog, methyltransferase (S. cerevisiae)) is a protein-coding gene. Diseases associated with COQ5 include kidney disease, and tuberculosis. GO annotations related to this gene include methyltransferase activity.

UniProtKB/Swiss-Prot: COQ5_HUMAN, Q5HYK3
Function: Methyltransferase required for the conversion of 2-polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to
2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2) (By similarity)




(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_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the COQ5 gene promoter:
         c-Fos   AP-1   NF-YA   NF-YB   CBF-A   CBF-B   c-Jun   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOQ5 promoter sequence
   Search Chromatin IP Primers for COQ5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COQ5


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

Entrez Gene cytogenetic band: 12q24.31   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.31

COQ5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COQ5 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M120941:  view genomic region     (about GC identifiers)

Start:
120,941,077 bp from pter      End:
120,972,237 bp from pter
Size:
31,161 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: COQ5_HUMAN, Q5HYK3 (See protein sequence)
Recommended Name: 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial precursor  
Size: 327 amino acids; 37140 Da
Secondary accessions: B4DEJ4 Q32Q28 Q53HH0 Q96LV1 Q9BSP8
Alternative splicing: 2 isoforms:  Q5HYK3-1   Q5HYK3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COQ5: NX_Q5HYK3

Explore proteomics data for COQ5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys95
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for COQ5 (Q5HYK3) (see all 10)
     MSLGIHR  AGGTGDI  YSFQVIP  LDVAGGT 


    See COQ5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115690.3  
    ENSEMBL proteins: 
     ENSP00000288532   ENSP00000401798   ENSP00000449863   ENSP00000449874   ENSP00000450001  
     ENSP00000449933  
    Reactome Protein details: Q5HYK3

    COQ5 Human Recombinant Protein Products:

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    Novus Biologicals COQ5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for COQ5

    COQ5 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for COQ5
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    ThermoFisher Antibodies for COQ5
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    COQ5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for COQ5
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for COQ5
    Cloud-Clone Corp. CLIAs for COQ5


    (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:
     IPR004033 UbiE/COQ5_MeTrFase
     IPR023576 UbiE/COQ5_MeTrFase_CS

    Graphical View of Domain Structure for InterPro Entry Q5HYK3

    ProtoNet protein and cluster: Q5HYK3

    1 Blocks protein domain: IPB004033 UbiE/COQ5 methyltransferase

    UniProtKB/Swiss-Prot: COQ5_HUMAN, Q5HYK3
    Similarity: Belongs to the class I-like SAM-binding methyltransferase superfamily. UbiE family


    COQ5 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: COQ5_HUMAN, Q5HYK3
    Function: Methyltransferase required for the conversion of 2-polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to
    2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2) (By similarity)
    Catalytic activity: S-adenosyl-L-methionine + 2-methoxy-6-all-trans-polyprenyl-1,4-benzoquinol =
    S-adenosyl-L-homocysteine + 6-methoxy-3-methyl-2-all-trans-polyprenyl-1,4-benzoquinol

         Enzyme Numbers (IUBMB): EC 2.1.1.522 EC 2.1.12 EC 2.1.1.2011

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008168methyltransferase activity IEA--
         
    COQ5 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COQ5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COQ5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COQ5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COQ5

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat COQ5 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate COQ5:
    hsa-miR-607
    SwitchGear 3'UTR luciferase reporter plasmidCOQ5 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for COQ5
    Predesigned siRNA for gene silencing in human, mouse, rat COQ5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for COQ5

    Clone
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    OriGene ORF clones in mouse, rat for COQ5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COQ5 (NM_032314)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COQ5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COQ5

    Cell Line
    Products:
         
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    Browse ESI BIO Cell Lines and PureStem Progenitors for COQ5 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COQ5


    (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
    COQ5_HUMAN, Q5HYK3: Mitochondrion (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion3
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--

    COQ5 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 COQ5 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for COQ5
        Ubiquinol biosynthesis


    2 Kegg Pathways  (Kegg details for COQ5):
        Ubiquinone and other terpenoid-quinone biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: COQ5_HUMAN, Q5HYK3
    Pathway: Cofactor biosynthesis; ubiquinone biosynthesis


    COQ5 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COQ5
    Interactions:

        Search GeneGlobe Interaction Network for COQ5

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

    Selected Interacting proteins for COQ5 (Q5HYK33 ENSP000002885324) via UniProtKB, MINT, STRING, and/or I2D (see all 46)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASKO149363, ENSP000003674084I2D: score=5 STRING: ENSP00000367408
    MOCS3O953963, ENSP000002440514I2D: score=2 STRING: ENSP00000244051
    ADCK3Q8NI603, ENSP000003557394I2D: score=1 STRING: ENSP00000355739
    RHOT1Q8IXI23, ENSP000003511324I2D: score=1 STRING: ENSP00000351132
    ADCK1Q86TW23, ENSP000002385614I2D: score=1 STRING: ENSP00000238561
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006744ubiquinone biosynthetic process TAS--
    GO:0008152metabolic process ----
    GO:0044281small molecule metabolic process TAS--

    COQ5 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 COQ5

    4 HMDB Compounds for COQ5    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Hexaprenyl-3-methyl-6-methoxy-1,4 benzoquinone ----
    2-Hexaprenyl-6-methoxy-1,4-benzoquinone2-polyprenyl-6-methoxy-1,4-benzoquinol (see all 2)----
    DifucosyllactohexaoseDFH (see all 3)115236-57-2--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--



    (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 COQ5 gene: 
    NM_032314.3  

    Unigene Cluster for COQ5:

    Coenzyme Q5 homolog, methyltransferase (S. cerevisiae)
    Hs.17250  [show with all ESTs]
    Unigene Representative Sequence: BX647562
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000288532(uc001tyn.3 uc010szj.2) ENST00000445328 ENST00000552443
    ENST00000546838 ENST00000547943 ENST00000551769 ENST00000547736 ENST00000547448

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat COQ5 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate COQ5:
    hsa-miR-607
    SwitchGear 3'UTR luciferase reporter plasmidCOQ5 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for COQ5
    Predesigned siRNA for gene silencing in human, mouse, rat COQ5
    Clone
    Products:
         
    OriGene clones in human, mouse for COQ5 (see all 7)
    OriGene ORF clones in mouse, rat for COQ5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COQ5 (NM_032314)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COQ5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COQ5
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for COQ5
    OriGene qSTAR qPCR primer pairs in human, mouse for COQ5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COQ5
      QuantiTect SYBR Green Assays in human, mouse, rat COQ5
      QuantiFast Probe-based Assays in human, mouse, rat COQ5

    Additional mRNA sequence: 

    AK057777.1 AK222610.1 AK225242.1 AK293656.1 AK298214.1 AK315681.1 BC004916.2 BC107874.1 
    BX647562.1 EU700459.1 

    11 DOTS entries:

    DT.116695  DT.100729220  DT.95080428  DT.97845829  DT.116696  DT.91749095  DT.91749088  DT.100832850 
    DT.121144763  DT.91749090  DT.100687173 

    Selected AceView cDNA sequences (see all 253):

    BU687352 AA284356 BG620136 CR601281 BI760986 CA429879 AV652171 BQ018651 
    CR619690 CR608167 CR595710 BM693667 W61153 AF062725 AA974811 AA720641 
    BG025217 AW292840 AL547287 AI110617 CB125089 BX395594 CR600322 BM705792 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for COQ5 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10
    SP1:              -     -     -                                                   
    SP2:              -           -                                                   
    SP3:              -     -     -                                                   
    SP4:              -     -     -     -                                             
    SP5:              -                                                               


    ECgene alternative splicing isoforms for COQ5

    (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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    COQ5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAATTGTGT
    COQ5 Expression
    About this image

    COQ5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COQ5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.17250
        Custom PCR Arrays for COQ5
    Primer
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    OriGene qPCR primer pairs and template standards for COQ5
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    QuantiTect SYBR Green Assays in human, mouse, rat COQ5
    QuantiFast Probe-based Assays in human, mouse, rat COQ5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COQ5

    (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 COQ5 gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Coq51 , 5 coenzyme Q5 homolog, methyltransferase (yeast)1, 5 83.69(n)1
    83.79(a)1
      5 (56.03 cM)5
    520641  NM_026504.21  NP_080780.11 
     1152796665 
    chicken
    (Gallus gallus)
    Aves COQ51 coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 71.33(n)
    76.11(a)
      416975  NM_001006194.1  NP_001006194.1 
    lizard
    (Anolis carolinensis)
    Reptilia COQ56
    coenzyme Q5 homolog, methyltransferase (S. cerevis...
    75(a)
    1 ↔ 1
    GL343338.1(92731-96210)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.259972 Xenopus laevis transcribed sequence with weak similarity more 74.31(n)    BJ626741.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:924451 zgc:92445 63.98(n)
    66.25(a)
      447802  NM_001004541.1  NP_001004541.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG24531 CG2453 61.33(n)
    61.2(a)
      32272  NM_132637.1  NP_572865.1 
    worm
    (Caenorhabditis elegans)
    Secernentea coq-51 coq-5 56.78(n)
    54.07(a)
      176099  NM_066303.6  NP_498704.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COQ5(YML110C)4
    COQ51
    2-hexaprenyl-6-methoxy-1,4-benzoquinone methyltransferase, more4
    COQ51
    55.35(n)1
    49.82(a)1
      13(50954-50031)4
    8549301, 4  NP_013597.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G573001 AT5G57300 60.29(n)
    59.93(a)
      835835  NM_001085291.2  NP_001078760.1 
    rice
    (Oryza sativa)
    Liliopsida NM_189505.12   -- 74.1(n)    NM_189505.1 


    ENSEMBL Gene Tree for COQ5 (if available)
    TreeFam Gene Tree for COQ5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COQ5 gene
    Selected SIMAP similar genes for COQ5 using alignment to 6 protein entries:     COQ5_HUMAN (see all proteins) (see all similar genes):
    SIPA1L3    TNNT1    HDGFRP2    IRF5    ARL6IP5    DCAF17
    PPIL6    TM4SF19    UBXN4    EIF3G    NDC80    SNRPF
    TBCB    C12orf76    ETFA    KIAA1651    LINC00999    MAP4K1

    COQ5 for paralogs           About GeneDecksing



    (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 COQ5 (see all 614)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1830959721,2
    --120940612(+) ATCATA/GCCCAG 1 -- int10--------
    rs1881382561,2
    C--120940657(+) CACCAC/TGCTGG 1 -- int10--------
    rs1914754811,2
    --120940786(+) CTGAAA/CGAATG 1 -- int10--------
    rs1821095421,2
    C--120940818(+) CAGGCA/GCGGCC 1 -- int10--------
    rs17101361,2
    C,F--120940864(+) AAAAAT/ATAGCC 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1880848911,2
    --120940865(+) AAAATG/TAGCCG 1 -- int10--------
    rs110651441,2
    C,F,A--120940881(+) GGTGGC/TGCGCA 1 -- int14Minor allele frequency- T:0.50NA 8
    rs1451735091,2
    --120940883(+) TGGCGC/TGCACC 1 -- int10--------
    rs1423141221,2
    C--120940926(+) GAGAAC/TTGCTT 1 -- int10--------
    rs1924854921,2
    --120940967(+) GAGATG/TGCACC 1 -- int10--------

    HapMap Linkage Disequilibrium report for COQ5 (120941077 - 120972237 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for COQ5: --
    Human Gene Mutation Database (HGMD): COQ5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COQ5
    DNA2.0 Custom Variant and Variant Library Synthesis for COQ5

    (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

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    4 diseases for COQ5:    About MalaCards
    kidney disease    tuberculosis    type 1 diabetes    malaria


    COQ5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): COQ5
    Human Genome Epidemiology (HuGE) Navigator: COQ5 (1 document)

    Export disorders for COQ5 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 COQ5 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with COQ5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Detection of suppressed maturation of the human COQ5 protein in the mitochondria following mitochondrial uncoupling by an antibody recognizing both precursor and mature forms of COQ5. (PubMed id 23354120)1 Chen S.W....Yen H.C. (Mitochondrion 2013)
    5. New susceptibility loci associated with kidney disease in type 1 diabetes. (PubMed id 23028342)1 Sandholm N....Maxwell A.P. (PLoS Genet. 2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    9. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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)
    About This Section

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    Entrez Gene: 84274 HGNC: 28722 AceView: MGC4767 Ensembl:ENSG00000110871 euGenes: HUgn84274
    ECgene: COQ5 Kegg: 84274 H-InvDB: COQ5

    (According to HUGE)
    About This Section

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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 COQ5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for COQ5 gene:
    Search GeneIP for patents involving COQ5

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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