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COQ6 Gene

protein-coding   GIFtS: 60
GCID: GC14P074416

Coenzyme Q6 Monooxygenase

(Previous names: coenzyme Q6 homolog (yeast), coenzyme Q6 homolog, monooxygenase...)
  See COQ6-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 Q6 Monooxygenase1 2     Coenzyme Q6 Homolog, Monooxygenase (Yeast)1
Coenzyme Q10 Monooxygenase 62 3     Coenzyme Q6 Homolog, Monooxygenase2
CGI102 5     Ubiquinone Biosynthesis Monooxygenase COQ62
COQ10D62 5     EC 1.14.13.-3
Coenzyme Q6 Homolog (Yeast)1     EC 1.14.138
Coenzyme Q6 Homolog, Monooxygenase (S. Cerevisiae)1     

External Ids:    HGNC: 202331   Entrez Gene: 510042   Ensembl: ENSG000001197237   OMIM: 6146475   UniProtKB: Q9Y2Z93   

Export aliases for COQ6 gene to outside databases

Previous GC identifers: GC14P068212 GC14P072406 GC14P073486 GC14P054583


(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 COQ6 Gene:
The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase
required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the
mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the
protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in
decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive
coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness.
Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
(provided by RefSeq, Jun 2012)

GeneCards Summary for COQ6 Gene:
COQ6 (coenzyme Q6 monooxygenase) is a protein-coding gene. Diseases associated with COQ6 include coenzyme q10 deficiency, primary, 6, and nephrotic syndrome. GO annotations related to this gene include oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen and flavin adenine dinucleotide binding.




(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 at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the COQ6 gene promoter:
         C/EBPbeta   Pax-5   IRF-1   Evi-1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): COQ6 promoter sequence
   Search Chromatin IP Primers for COQ6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COQ6


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

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.1

COQ6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COQ6 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P074416:  view genomic region     (about GC identifiers)

Start:
74,416,629 bp from pter      End:
74,430,373 bp from pter
Size:
13,745 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: COQ6_HUMAN, Q9Y2Z9 (See protein sequence)
Recommended Name: Ubiquinone biosynthesis monooxygenase COQ6  
Size: 468 amino acids; 50870 Da
Cofactor: FAD (Potential)
Subunit: Interacts with ADCK4 and COQ7
Secondary accessions: B7Z3K8 Q53GG6 Q86U30 Q96CA1 Q96CK2
Alternative splicing: 3 isoforms:  Q9Y2Z9-1   Q9Y2Z9-2   Q9Y2Z9-3   

Explore the universe of human proteins at neXtProt for COQ6: NX_Q9Y2Z9

Explore proteomics data for COQ6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys78
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for COQ6 (Q9Y2Z9)
     HPLAGQG  LSSLVWST  VAWQRFLP  ALIGDAAH 


    See COQ6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_872282.1  NP_872286.2  

    ENSEMBL proteins: 
     ENSP00000377594   ENSP00000450736   ENSP00000333946   ENSP00000451685   ENSP00000450511  
     ENSP00000451562   ENSP00000451301   ENSP00000451123   ENSP00000238709  
    Reactome Protein details: Q9Y2Z9

    COQ6 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for COQ6

     
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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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    5 InterPro protein domains:
     IPR003042 Rng_hydrolase-like
     IPR000689 UbQ_biosynth_mOase
     IPR002938 mOase_FAD-bd
     IPR010971 Ubi_Hdrxlases
     IPR018168 Ubi_Hdrlase_CS

    Graphical View of Domain Structure for InterPro Entry Q9Y2Z9

    ProtoNet protein and cluster: Q9Y2Z9

    3 Blocks protein domains:
    IPB002938 Monooxygenase
    IPB003042 Aromatic-ring hydroxylase (flavoprotein monooxygenase) signature
    IPB010971 Ubiquinone biosynthesis hydroxylase


    UniProtKB/Swiss-Prot: COQ6_HUMAN, Q9Y2Z9
    Similarity: Belongs to the UbiH/COQ6 family


    Find genes that share domains with COQ6           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Enzyme Numbers (IUBMB): EC 1.14.13.-1 EC 1.14.132

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity ----
    GO:0016709oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen IEA--
    GO:0050660flavin adenine dinucleotide binding IEA--
         
    Find genes that share ontologies with COQ6           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Coq6 (no phenotypes)

    Find genes that share phenotypes with COQ6           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COQ6
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    miRNA
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    miRTarBase miRNAs that target COQ6:
    hsa-mir-423-5p (MIRT038047), hsa-mir-1 (MIRT023583)

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    (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
    COQ6_HUMAN, Q9Y2Z9: Golgi apparatus. Cell projection (By similarity). Note=Localizes to podocyte cell processes
    (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    mitochondrion4
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005794Golgi apparatus IEA--
    GO:0042995cell projection IEA--

    Find genes that share ontologies with COQ6           About GenesLikeMe


    (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 COQ6 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


    Find genes that share SuperPaths with COQ6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for COQ6
        Ubiquinol biosynthesis


    2 Kegg Pathways  (Kegg details for COQ6):
        Ubiquinone and other terpenoid-quinone biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: COQ6_HUMAN, Q9Y2Z9
    Pathway: Cofactor biosynthesis; ubiquinone biosynthesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COQ6
    Interactions:

        Search GeneGlobe Interaction Network for COQ6

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

    Selected Interacting proteins for COQ6 (Q9Y2Z93 ENSP000003339464) via UniProtKB, MINT, STRING, and/or I2D (see all 93)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    COQ3Q9NZJ63, ENSP000002547594I2D: score=2 STRING: ENSP00000254759
    HSPD1P108093, ENSP000003400194I2D: score=2 STRING: ENSP00000340019
    ADCK3Q8NI603, ENSP000003557394I2D: score=1 STRING: ENSP00000355739
    IDH3GP515533, ENSP000002179014I2D: score=1 STRING: ENSP00000217901
    ATP6V1B2P212813, ENSP000002763904I2D: score=1 STRING: ENSP00000276390
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006744ubiquinone biosynthetic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0055114oxidation-reduction process ----

    Find genes that share ontologies with COQ6           About GenesLikeMe



    (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 COQ6

    4 HMDB Compounds for COQ6    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Hexaprenyl-6-methoxy-1,4-benzoquinone2-polyprenyl-6-methoxy-1,4-benzoquinol (see all 2)----
    2-Hexaprenyl-6-methoxyphenol ----
    DifucosyllactohexaoseDFH (see all 3)115236-57-2--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for COQ6 gene (2 alternative transcripts): 
    NM_182476.2  NM_182480.2  

    Unigene Cluster for COQ6:

    Coenzyme Q6 homolog, monooxygenase (S. cerevisiae)
    Hs.131555  [show with all ESTs]
    Unigene Representative Sequence: NM_182480
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000394026(uc001xpe.3 uc010tuk.2) ENST00000554341 ENST00000553462
    ENST00000334571(uc001xph.3 uc021rwk.1) ENST00000556300(uc010tum.2)
    ENST00000554153 ENST00000557584(uc010tun.2) ENST00000554920 ENST00000554217
    ENST00000553922 ENST00000554193 ENST00000555552 ENST00000557205(uc010tul.2)
    ENST00000555196 ENST00000554320 ENST00000555392 ENST00000555511 ENST00000556588

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      QuantiTect SYBR Green Assays in human, mouse, rat COQ6
      QuantiFast Probe-based Assays in human, mouse, rat COQ6

    Additional mRNA sequence: 

    AF132944.1 AK130167.1 AK222965.1 AK296040.1 BC014181.2 BC014483.1 BX248000.1 

    23 DOTS entries:

    DT.451753  DT.101984435  DT.112806  DT.102840236  DT.100026082  DT.97844429  DT.100819694  DT.100819690 
    DT.120749751  DT.101979558  DT.102840233  DT.91754472  DT.91754474  DT.97844428  DT.100016252  DT.120749771 
    DT.120749800  DT.120749963  DT.40108135  DT.95224131  DT.120749967  DT.70103907  DT.97791853 

    Selected AceView cDNA sequences (see all 204):

    BX090376 BX342249 BM920523 BC014181 AK130167 BP360131 BM768247 AA828290 
    AW571533 BQ575786 BU193104 BI821826 CR626826 BX384499 AA740575 AL552392 
    BQ057738 BI752998 BM796996 AA429112 BX386728 CA425061 CR610307 BM919869 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for COQ6 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14a ·
    SP1:                          -           -           -           -     -     -           -                             -                                       
    SP2:                                                                                                                    -                 -     -     -         
    SP3:                          -           -           -           -                                                                                             
    SP4:                                      -           -           -                                                                                             
    SP5:                                                                                                                                                            

    ExUns: 14b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for COQ6

    (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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    COQ6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    COQ6 Expression
    About this image


    COQ6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Adipose (Muscoskeletal System)
             Thoracic Perivascular Adipose
    COQ6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COQ6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.131555

    UniProtKB/Swiss-Prot: COQ6_HUMAN, Q9Y2Z9
    Tissue specificity: Widely epressed

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COQ6

    (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 COQ6 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Coq61 , 5 coenzyme Q6 homolog (yeast)1, 5 85.33(n)1
    87.61(a)1
      12 (39.18 cM)5
    2177071  NM_172582.31  NP_766170.21 
     843616575 
    chicken
    (Gallus gallus)
    Aves COQ61 coenzyme Q6 homolog, monooxygenase (S. cerevisiae) 71.03(n)
    72.32(a)
      423342  XM_421257.3  XP_421257.3 
    lizard
    (Anolis carolinensis)
    Reptilia COQ66
    coenzyme Q6 monooxygenase
    68(a)
    1 ↔ 1
    1(23781176-23798424)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.244622 Xenopus laevis transcribed sequence with weak similarity more 75.21(n)    CA974520.1 
    zebrafish
    (Danio rerio)
    Actinopterygii coq61 coenzyme Q6 homolog, monooxygenase (S. cerevisiae) 66.59(n)
    66.89(a)
      751691  NM_001045404.1  NP_001038869.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG72771 CG7277 51.49(n)
    44.8(a)
      33777  NM_135090.4  NP_608934.1 
    worm
    (Caenorhabditis elegans)
    Secernentea coq-61 coq-6 47.55(n)
    42.18(a)
      179316  NM_073014.4  NP_505415.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COQ6(YGR255C)4
    COQ61
    Putative flavin-dependent monooxygenase; involved in more4
    COQ61
    44.56(n)1
    36.03(a)1
      7(1003962-1002523)4
    8531701, 4  NP_011771.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G242001 AT3G24200 48.51(n)
    37.63(a)
      822006  NM_113325.3  NP_189062.3 
    rice
    (Oryza sativa)
    Liliopsida Os03g08391001 Os03g0839100 47.67(n)
    37.68(a)
      4334721  NM_001058375.1  NP_001051840.1 


    ENSEMBL Gene Tree for COQ6 (if available)
    TreeFam Gene Tree for COQ6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COQ6 gene

    Find genes that share paralogs with COQ6           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for COQ6
    PGOHUM00000249279


    (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)
    About This Section

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    Selected SNPs for COQ6 (see all 473)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0682164
    Coenzyme Q10 deficiency, primary, 6 (COQ10D6)4--see VAR_0682162 G R mis40--------
    VAR_0682184
    Coenzyme Q10 deficiency, primary, 6 (COQ10D6)4--see VAR_0682182 A D mis40--------
    rs37597501,2
    C--54581666(-) AAAAAC/TTAGCC 1 -- us2k15Minor allele frequency- T:0.31WA CSA NA EA 361
    rs1459700771,2
    C--54581697(+) GTTTCA/GCCATG 1 -- us2k10--------
    rs1397900121,2
    --54581743(+) GATCCA/GCCTGC 1 -- us2k10--------
    rs358972911,2
    C,F--54581905(+) CTATGT/CTATGG 2 -- us2k17Minor allele frequency- C:0.12NA WA EA 366
    rs1431828981,2
    --54581930(+) CTGTTG/TCCTGA 2 -- us2k10--------
    rs116245781,2
    C,F,H--54581946(+) TTGCCG/ATTGGC 2 -- us2k18Minor allele frequency- A:0.19NS EA NA 544
    rs1848250241,2
    --54582190(+) CTATAC/GAATAT 2 -- us2k10--------
    rs1160358821,2
    C,F--54582290(+) CCCTTA/CAAAGA 2 -- us2k11Minor allele frequency- C:0.04WA 118

    HapMap Linkage Disequilibrium report for COQ6 (74416629 - 74430373 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for COQ6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1352CNV Loss18451855
    nsv456339CNV Loss19166990
    nsv524396CNV Gain19592680

    Human Gene Mutation Database (HGMD): COQ6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COQ6
    DNA2.0 Custom Variant and Variant Library Synthesis for COQ6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614647   
    OMIM disorders: 614650  
    UniProtKB/Swiss-Prot: COQ6_HUMAN, Q9Y2Z9
  • Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650]: An autosomal recessive disorder characterized
    by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and
    sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 3 diseases for COQ6:    
    About MalaCards
    coenzyme q10 deficiency, primary, 6    nephrotic syndrome    steroid-resistant nephrotic syndrome


    Find genes that share disorders with COQ6           About GenesLikeMe

    Genetic Association Database (GAD): COQ6
    Human Genome Epidemiology (HuGE) Navigator: COQ6 (1 document)

    Export disorders for COQ6 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 COQ6 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with COQ6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. (PubMed id 21540551)1, 2, 3 Heeringa S.F.... Hildebrandt F. (J. Clin. Invest. 2011)
    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. 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)
    4. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.-H.... Lin W.-C. (Genome Res. 2000)
    5. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. (PubMed id 24270420)2 Ashraf S....Hildebrandt F. (J. Clin. Invest. 2013)
    6. An important role for CDK2 in G1 to S checkpoint activation and DNA damage response in human embryonic stem cells. (PubMed id 21319273)1 Neganova I....Lako M. (Stem Cells 2011)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. 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)
    9. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    10. Identification of SUMOylated proteins in neuroblastoma cells after treatment with hydrogen peroxide or ascorbate. (PubMed id 21110914)1 Grant M.M. (BMB Rep 2010)

    (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: 51004 HGNC: 20233 AceView: COQ6 Ensembl:ENSG00000119723 euGenes: HUgn51004
    ECgene: COQ6 Kegg: 51004 H-InvDB: COQ6

    (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 COQ6 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 COQ6 gene:
    Search GeneIP for patents involving COQ6

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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