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COQ9 Gene

protein-coding   GIFtS: 54
GCID: GC16P057481

Coenzyme Q9

(Previous names: chromosome 16 open reading frame 49, coenzyme Q9 homolog...)
(Previous symbol: C16orf49)
  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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Coenzyme Q91 2     Coenzyme Q9 Homolog (S. Cerevisiae)1
C16orf491 2 3 5     Coenzyme Q9 Homolog (Yeast)1
COQ10D52 5     Coenzyme Q9 Homolog2
Chromosome 16 Open Reading Frame 491     Ubiquinone Biosynthesis Protein COQ9, Mitochondrial2

External Ids:    HGNC: 253021   Entrez Gene: 570172   Ensembl: ENSG000000886827   OMIM: 6128375   UniProtKB: O752083   
ORGUL members:         

Export aliases for COQ9 gene to outside databases

Previous GC identifers: GC16P056040 GC16P043348


(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 COQ9 Gene:
This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for
biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive
neonatal-onset primary coenzyme Q10 deficiency.(provided by RefSeq, Sep 2010)

GeneCards Summary for COQ9 Gene:
COQ9 (coenzyme Q9) is a protein-coding gene. Diseases associated with COQ9 include coenzyme q10 deficiency, primary, 5, and coq9-related coenzyme q10 deficiency.

UniProtKB/Swiss-Prot: COQ9_HUMAN, O75208
Function: Involved in the biosynthesis of coenzyme Q (By similarity)

Gene Wiki entry for COQ9 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_000016.10  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the COQ9 gene promoter:
         HOXA9   HOXA9B   AML1a   MyoD   MIF-1   SRY   Ik-2   Meis-1a   Zic3   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOQ9 promoter sequence
   Search Chromatin IP Primers for COQ9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COQ9


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

Entrez Gene cytogenetic band: 16q21   Ensembl cytogenetic band:  16q21   HGNC cytogenetic band: 16q13

COQ9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COQ9 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P057481:  view genomic region     (about GC identifiers)

Start:
57,481,337 bp from pter      End:
57,495,187 bp from pter
Size:
13,851 bases      Orientation:
plus 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: COQ9_HUMAN, O75208 (See protein sequence)
Recommended Name: Ubiquinone biosynthesis protein COQ9, mitochondrial precursor  
Size: 318 amino acids; 35509 Da
Sequence caution: Sequence=AAF29004.1; Type=Frameshift; Positions=26, 133, 138, 141;
Secondary accessions: A8K3L2 Q7L5V7 Q7Z5T6 Q8NBL4 Q9NTJ2 Q9P056
Alternative splicing: 2 isoforms:  O75208-1   O75208-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COQ9: NX_O75208

Explore proteomics data for COQ9 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See COQ9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_064708.1  
    ENSEMBL proteins: 
     ENSP00000262507   ENSP00000458023   ENSP00000454992   ENSP00000455256   ENSP00000456728  
     ENSP00000456174   ENSP00000455495   ENSP00000455516  

    COQ9 Human Recombinant Protein Products:

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    Novus Biologicals COQ9 Lysate
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    Cloud-Clone Corp. Proteins for COQ9

    COQ9 Antibody 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:
     IPR012762 Ubiq_biosynth_COQ9
     IPR013718 COQ9

    Graphical View of Domain Structure for InterPro Entry O75208

    ProtoNet protein and cluster: O75208

    1 Blocks protein domain: IPB013718 COQ9

    UniProtKB/Swiss-Prot: COQ9_HUMAN, O75208
    Similarity: Belongs to the COQ9 family


    COQ9 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: COQ9_HUMAN, O75208
    Function: Involved in the biosynthesis of coenzyme Q (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
         
    COQ9 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Coq9):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  homeostasis/metabolism 
     integument  mortality/aging  muscle  nervous system 

    COQ9 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COQ9
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COQ9
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COQ9

    miRNA
    Products:
        
    miRTarBase miRNAs that target COQ9:
    hsa-mir-26b-5p (MIRT029756)

    Block miRNA regulation of human, mouse, rat COQ9 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate COQ9:
    hsa-miR-3910 hsa-miR-125a-3p hsa-miR-641 hsa-miR-3185 hsa-miR-1827 hsa-miR-3617
    SwitchGear 3'UTR luciferase reporter plasmidCOQ9 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat COQ9

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    GenScript: all cDNA clones in your preferred vector: COQ9 (NM_020312)
    Sino Biological Human cDNA Clone for COQ9
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COQ9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COQ9

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COQ9


    (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
    COQ9_HUMAN, O75208: Mitochondrion (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion3
    cytosol1
    extracellular1

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

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

    COQ9 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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    UniProtKB/Swiss-Prot: COQ9_HUMAN, O75208
    Pathway: Cofactor biosynthesis; ubiquinone biosynthesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COQ9
    Interactions:

        Search GeneGlobe Interaction Network for COQ9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for COQ9 (O752082, 3 ENSP000002625074) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTL6BO948052, 3, ENSP000001603824MINT-65665 I2D: score=4 STRING: ENSP00000160382
    ANO8Q9HCE93, ENSP000001590874I2D: score=3 STRING: ENSP00000159087
    COQ4ENSP000003004524STRING: ENSP00000300452
    COQ5ENSP000002885324STRING: ENSP00000288532
    COQ7ENSP000003223164STRING: ENSP00000322316
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone IEA--
    GO:0006744ubiquinone biosynthetic process IEA--

    COQ9 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 COQ9

    4 Novoseek inferred chemical compound relationships for COQ9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    coq9 94.8 6 15479130 (1), 16583456 (1), 17405953 (1), 15866432 (1) (see all 5)
    coq10 83.2 9 10548281 (1), 16583456 (1), 15866432 (1), 14695930 (1)
    vitamin-e 33.8 2 15037988 (2)
    lipid 0 1 15479130 (1)



    COQ9 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,
    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 COQ9 gene: 
    NM_020312.3  

    Unigene Cluster for COQ9:

    Coenzyme Q9 homolog (S. cerevisiae)
    Hs.513632  [show with all ESTs]
    Unigene Representative Sequence: NM_020312
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000566388(uc002elp.2) ENST00000262507(uc002elq.3) ENST00000565964
    ENST00000562734(uc010vhn.2) ENST00000568790(uc010vho.2 uc010vhp.2)
    ENST00000564655 ENST00000564115 ENST00000567072 ENST00000567933 ENST00000562426
    ENST00000563166 ENST00000563391 ENST00000567384 ENST00000567480 ENST00000567576
    ENST00000569980(uc002els.3)
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate COQ9:
    hsa-miR-3910 hsa-miR-125a-3p hsa-miR-641 hsa-miR-3185 hsa-miR-1827 hsa-miR-3617
    SwitchGear 3'UTR luciferase reporter plasmidCOQ9 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for COQ9
    Predesigned siRNA for gene silencing in human, mouse, rat COQ9
    Clone
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    OriGene clones in human, mouse for COQ9 (see all 8)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COQ9 (NM_020312)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COQ9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COQ9
    Primer
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    OriGene qPCR primer pairs and template standards for COQ9
    OriGene qSTAR qPCR primer pairs in human, mouse for COQ9
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COQ9
      QuantiTect SYBR Green Assays in human, mouse, rat COQ9
      QuantiFast Probe-based Assays in human, mouse, rat COQ9

    Additional mRNA sequence: 

    AF161444.1 AK290627.1 AK295793.1 AK303527.1 BC001478.2 BC029341.1 BC054340.1 BC064946.1 

    22 DOTS entries:

    DT.92438807  DT.99954358  DT.95112880  DT.120657475  DT.92438805  DT.86838873  DT.101959120  DT.95183851 
    DT.105610  DT.100029089  DT.100825239  DT.100734386  DT.80101904  DT.95112884  DT.100667589  DT.100765430 
    DT.100825242  DT.120657445  DT.91713274  DT.95112877  DT.95112879  DT.120657437 

    Selected AceView cDNA sequences (see all 351):

    BM752917 BG747410 AA307471 CR604814 BQ648920 BC064946 CR626697 CB146108 
    BC029341 BQ653568 BC001478 BF981721 BI756556 BQ067170 AA635054 BE407449 
    CR613497 BX363493 BQ921290 BM554044 CB160576 BM772630 R94994 CR612234 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for COQ9 (see all 11)    About this scheme

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


    ECgene alternative splicing isoforms for COQ9

    (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 Genevestigator, and/or 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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    COQ9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTGCAGGA
    COQ9 Expression
    About this image

    COQ9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COQ9 Protein Expression

    Genevestigator expression for COQ9

    SOURCE GeneReport for Unigene cluster: Hs.513632
        Custom PCR Arrays for COQ9
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat COQ9
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COQ9

    (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 COQ9 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Coq91 , 5 coenzyme Q9 homolog (yeast)1, 5 89.6(n)1
    92.6(a)1
      8 (46.89 cM)5
    679141  NM_026452.21  NP_080728.11 
     948383215 
    chicken
    (Gallus gallus)
    Aves COQ91 coenzyme Q9 homolog (S. cerevisiae) 71.34(n)
    71.34(a)
      415636  NM_001198605.1  NP_001185534.1 
    lizard
    (Anolis carolinensis)
    Reptilia COQ96
    coenzyme Q9
    64(a)
    1 ↔ 1
    GL343677.1(7627-17823)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia coq91 coenzyme Q9 65.92(n)
    67.41(a)
      496601  NM_001011181.2  NP_001011181.1 
    zebrafish
    (Danio rerio)
    Actinopterygii coq91 coenzyme Q9 homolog (S. cerevisiae) 64.33(n)
    62.46(a)
      567716  NM_001098746.1  NP_001092216.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG304931 CG30493 48.39(n)
    37.79(a)
      246650  NM_165550.2  NP_724594.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COQ91 COQ9 38.41(n)
    27.17(a)
      850898   NP_013302.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G191401 AT1G19140 44.64(n)
    32.16(a)
      838497  NM_202132.2  NP_973861.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g04051001 Os03g0405100 48.74(n)
    38.19(a)
      4333072  NM_001056863.1  NP_001050328.1 


    ENSEMBL Gene Tree for COQ9 (if available)
    TreeFam Gene Tree for COQ9 (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 COQ9 (see all 372)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1512135401,2
    C--43346999(+) GAGGCG/TGACGT 1 -- us2k10--------
    rs1909099481,2
    --43347266(+) AATTAA/CAACCT 1 -- us2k10--------
    rs1391923081,2
    --43347277(+) GCAAAC/TGAGAC 1 -- us2k10--------
    rs1452610241,2
    C--43347295(+) ACCTAC/GTATGT 1 -- us2k10--------
    rs1179834011,2
    C,F--43347314(+) CTACAC/TGGGAG 1 -- us2k11Minor allele frequency- T:0.04EA 120
    rs1476141671,2
    --43347446(+) GTTGCC/TCAGGC 1 -- us2k10--------
    rs1416900791,2
    --43347458(+) GGAGTG/TCAATG 1 -- us2k10--------
    rs1727801,2
    C,F,A--43347461(+) GTGCAA/GTGGCA 1 -- us2k13Minor allele frequency- G:0.33NA WA 6
    rs1727811,2
    C,F--43347476(+) cttggC/Ttcact 1 -- us2k12Minor allele frequency- T:0.50NA 4
    rs1491289771,2
    C--43347517(+) CTCCCA/GCCTCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for COQ9 (57481337 - 57495187 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for COQ9:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv906724CNV Loss21882294
    nsv833245CNV Loss17160897

    Human Gene Mutation Database (HGMD): COQ9
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COQ9
    DNA2.0 Custom Variant and Variant Library Synthesis for COQ9

    (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: 612837   
    OMIM disorders: 614654  
    UniProtKB/Swiss-Prot: COQ9_HUMAN, O75208
  • Coenzyme Q10 deficiency, primary, 5 (COQ10D5) [MIM:614654]: A form of coenzyme Q10 deficiency, 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

  • 9 diseases for COQ9:    About MalaCards
    coenzyme q10 deficiency, primary, 5    coq9-related coenzyme q10 deficiency    coenzyme q10 deficiency disease    encephalomyopathy
    hypertrophic cardiomyopathy    ataxia    malaria    multiple myeloma
    myeloma


    COQ9 for disorders           About GeneDecksing

    Genetic Association Database (GAD): COQ9
    Human Genome Epidemiology (HuGE) Navigator: COQ9 (1 document)

    Export disorders for COQ9 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 COQ9 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with COQ9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. (PubMed id 19375058)1, 2, 3 Duncan A.J.... Rahman S. (Am. J. Hum. Genet. 2009)
    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. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    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. 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)
    6. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    7. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PubMed id 10493829)1, 2 Loftus B.J.... Adams M.D. (Genomics 1999)
    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. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)

    (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: 57017 HGNC: 25302 AceView: DKFZP434K046 Ensembl:ENSG00000088682 euGenes: HUgn57017
    ECgene: COQ9 H-InvDB: COQ9

    (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 COQ9 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 COQ9 gene:
    Search GeneIP for patents involving COQ9

    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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