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

COQ6 Gene

protein-coding   GIFtS: 54
GCID: GC14P074416

coenzyme Q6 homolog, monooxygenase (S. cerevisiae)

(Previous names: coenzyme Q6 homolog (yeast), coenzyme Q6 homolog, monooxygenase...)
 Explore 2 diseases affiliated with
COQ6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for COQ6    

Aliases
for COQ6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Coenzyme Q6 Homolog, Monooxygenase (S. Cerevisiae)1 2     CGI102
Coenzyme Q10 Monooxygenase 62 3     COQ10D62
CGI-101     Ubiquinone Biosynthesis Monooxygenase COQ62
Coenzyme Q6 Homolog (Yeast)1     EC 1.14.13.-3
Coenzyme Q6 Homolog, Monooxygenase (Yeast)1     EC 1.14.138

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


Summaries
for COQ6 gene

(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 COQ6:
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)




Genomic Views
for COQ6 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for COQ6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for COQ6 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: COQ6_HUMAN, Q9Y2Z9 (See protein sequence)
Recommended Name: Ubiquinone biosynthesis monooxygenase COQ6  
Size: 468 amino acids; 50870 Da
Cofactor: FAD (Potential)
Subcellular location: Golgi apparatus. Cell projection (By similarity). Note=Localizes to podocyte cell processes (By
similarity)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y2Z9

    • 4 DME Specific Peptides for COQ6 (Q9Y2Z9)
     HPLAGQG  LSSLVWST  VAWQRFLP  ALIGDAAH 

    COQ6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000377594   ENSP00000450736   ENSP00000333946   ENSP00000451685   ENSP00000450511  
     ENSP00000451562   ENSP00000450907   ENSP00000451301   ENSP00000451123   ENSP00000238709  
    Reactome Protein details: Q9Y2Z9
    Human Recombinant Protein Products: 
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    Novus Biologicals COQ6 Protein
    Novus Biologicals COQ6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for COQ6

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

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


    COQ6 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for COQ6

    Protein Domains /
    Families
    for COQ6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    COQ6 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 families:
    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


    Function
    for COQ6 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Enzyme Numbers (IUBMB): EC 1.14.13.-1 EC 1.14.132

    miRNA
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    Inhib. RNA
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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--


    COQ6 for ontologies           About GeneDecksing



    Pathways & Interactions
    for COQ6 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    2Ubiquinone and other terpenoid-quinone biosynthesis
    		Ubiquinone and other terpenoid-quinone biosynthesis1.00
    		Ubiquinol biosynthesis0.56

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for COQ6
        Metabolism
    Ubiquinol biosynthesis
    Metabolism of lipids and lipoproteins


    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


    COQ6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COQ6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/34 Interacting proteins for COQ6 (Q9Y2Z93 ENSP000003339464) via UniProtKB, MINT, STRING, and/or I2D (see all 34)

    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
    SARS2Q9NP813, ENSP000002214314I2D: score=1 STRING: ENSP00000221431
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006744ubiquinone biosynthetic process IEA--


    COQ6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for COQ6 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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--
    Search CenterWatch for drugs/clinical trials and news about COQ6 

    Transcripts
    for COQ6 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    18/22 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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    Inhib. RNA
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    Browse OriGene siRNA
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    Clone
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    Additional cDNA sequence: 

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

    22 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.97844428  DT.100016252  DT.120749771  DT.120749800 
    DT.120749963  DT.40108135  DT.91754474  DT.95224131  DT.70103907  DT.97791853 

    24/204 AceView cDNA sequences (see all 204):

    BX379344 CR609198 BI752998 BM796996 BI754406 AL120685 AI310814 AA828290 
    BX444452 AU106324 BX385614 BE157239 BX248000 AL523155 NM_182476 AA740575 
    AA516380 BM681211 AW571533 CR610307 BI911103 BM920523 BM726557 NM_182480 

    GeneLoc Exon Structure

    5/11 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

    Expression
    for COQ6 gene

    (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

    COQ6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See COQ6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COQ6

    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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    Orthologs
    for COQ6 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for COQ6 gene from 11/35 species (see all 35)    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) 71.2(n)
    72.57(a)    		   423342  XM_421257.2  XP_421257.2 
    lizard
    (Anolis carolinensis)    		 Reptilia COQ66
    		 --
    		 69(a)
    		 1 ↔ 1
    		 1(23781176-23798095)
    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 51.64(n)
    45.07(a)    		   33777  NM_135090.3  NP_608934.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea coq-61 Protein COQ-6 47.23(n)
    41.69(a)    		   179316  NM_073014.3  NP_505415.2 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes COQ6(YGR255C)4
    COQ61    		 Putative flavin-dependent monooxygenase; involved in more4
    Coq6p1    		 44(n)1
    35.05(a)1    		   7(1003962-1002523)4
    8531701, 4  NP_011771.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G242001 ubiquinone biosynthesis monooxygenase Coq6 47.45(n)
    35.65(a)    		   822006  NM_001035681.1  NP_001030758.1 
    rice
    (Oryza sativa)    		 Liliopsida Os03g08391001 hypothetical protein 48.2(n)
    38.5(a)    		   4334721  NM_001058375.1  NP_001051840.1 


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

    Paralogs
    for COQ6 gene

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

    COQ6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for COQ6
    PGOHUM00000249279


    Genomic Variants
    for COQ6 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/371 NCBI SNPs in COQ6 are shown (see all 371)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs128966941,2
    		--54582635(+) gactaT/Caggcg 2 -- us2k11Minor allele frequency- C:0.00NA 2
    rs74009181,2
    		C,H,--54583112(+) tttttT/Aaattt 2 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs118488151,2
    		C,F,H--54583257(+) ttcttA/Catctc 2 -- us2k15Minor allele frequency- C:0.13NS NA 522
    rs2006327691,2
    		C--54583281(-) TAGAAA/GAGAAA 2 -- us2k10--------
    rs116217431,2
    		C,F,H,--54583473(+) TGCTGT/CCTGTC 2 -- us2k1 tfbs312Minor allele frequency- C:0.23NA EA MN 958
    rs775587871,2
    		C,F,--54583476(+) TGTCTG/CTCTCC 2 -- us2k11Minor allele frequency- C:0.07WA 118
    rs1908813821,2
    		C,--54583655(+) AGCGGG/TGGCAG 2 -- ut51 us2k10--------
    rs1118335211,2
    		C,F,--54583705(+) TTGGCG/TTCTGG 3 V F us2k1 mis13Minor allele frequency- T:0.07CSA WA 124
    rs170941611,2
    		C,F,H,--54583709(+) CGTCTG/AGTTGG 3 /* /W stg1 us2k1 ese319Minor allele frequency- A:0.03NA NS EA WA 1870
    rs733014131,2
    		C,--54583730(+) AGCCTC/TCGATC 3 S F us2k1 mis11Minor allele frequency- T:0.50WA 2

    HapMap Linkage Disequilibrium report for COQ6 (74416629 - 74430373 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for COQ6: --
    Human Gene Mutation Database (HGMD): COQ6

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COQ6
    DNA2.0 Custom Variant and Variant Library Synthesis for COQ6

    Disorders / Diseases
    for COQ6 gene

    (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.)
    About This Section
    COQ6 for disorders           About GeneDecksing

    OMIM gene information: 614647    OMIM disorders: --

    UniProtKB/Swiss-Prot: COQ6_HUMAN, Q9Y2Z9
  • Defects in COQ6 are the cause of coenzyme Q10 deficiency, primary, type 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

    2 diseases for COQ6:    About MalaCards
    nephrotic syndrome    steroid-resistant nephrotic syndrome

    Human Genome Epidemiology (HuGE) Navigator: COQ6 (1 document)

    Export disorders for COQ6 gene to outside databases

    Publications
    for COQ6 gene

    (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 COQ6 gene, integrated from 9 sources (see all 16):
    (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 sy ndrome with sensorineural deafness. (PubMed id 21540551)1, 2 Heeringa S.F....Hildebrandt F. (2011)
    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. (2004)
    3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.H....Lin W. (2000)
    4. 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. (2011)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. Identification of SUMOylated proteins in neuroblastoma cells after treatment with hydrogen peroxide or ascorbate. (PubMed id 21110914)1 Grant M.M. (2010)
    9. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    10. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)

    External Searches for COQ6 gene

    (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)

    Genome Databases showing COQ6 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51004 HGNC: 20233 AceView: COQ6 Ensembl:ENSG00000119723 euGenes: HUgn51004
    ECgene: COQ6 Kegg: 51004 H-InvDB: COQ6

    Other Databases showing COQ6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing COQ6 gene

    (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 COQ6 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for COQ6 gene

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



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