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

COQ4 Gene

protein-coding   GIFtS: 50
GCID: GC09P131084

coenzyme Q4 homolog (S. cerevisiae)

(Previous name: coenzyme Q4 homolog (yeast) )
 Explore 1 disease affiliated with
COQ4 via our new
 Human Malady Compendium 
Biological research products
for COQ4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Coenzyme Q4 Homolog (S. Cerevisiae)1 2
CGI-921 2
Coenzyme Q Biosynthesis Protein 4 Homolog2 3
Coenzyme Q4 Homolog (Yeast)1
Ubiquinone Biosynthesis Protein COQ4 Homolog, Mitochondrial2

External Ids:    HGNC: 196931   Entrez Gene: 511172   Ensembl: ENSG000001671137   OMIM: 6128985   UniProtKB: Q9Y3A03   

Export aliases for COQ4 gene to outside databases

Previous GC identifers: GC09P122199 GC09P122731 GC09P124538 GC09P126460 GC09P128164 GC09P130124 GC09P100697


(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 COQ4:
Coenzyme Q (CoQ) is a small lipophilic molecule that transports electrons between mitochondrial respiratory chain
complexes and functions as a cofactor for mitochondrial enzymes. COQ4 is an enzyme involved in CoQ biosynthesis
(Casarin et al., 2008 (PubMed 18474229)).(supplied by OMIM, Aug 2009)

UniProtKB/Swiss-Prot: COQ4_HUMAN, Q9Y3A0
Function: Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme
complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides

Gene Wiki entry for COQ4


(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_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COQ4 gene promoter:
         NF-1   NF-1/L   AML1a   GCNF   Olf-1   POU2F1   GCNF-1   POU2F1a   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOQ4 promoter sequence
   Search SABiosciences Chromatin IP Primers for COQ4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COQ4


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

Entrez Gene cytogenetic band: 9q34.11   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.2

COQ4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COQ4 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P131084:  view genomic region     (about GC identifiers)

Start:
131,084,791 bp from pter      End:
131,096,351 bp from pter
Size:
11,561 bases      Orientation:
plus strand

(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: COQ4_HUMAN, Q9Y3A0 (See protein sequence)
Recommended Name: Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial precursor  
Size: 265 amino acids; 29657 Da
Subunit: Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9
(By similarity)
Subcellular location: Isoform 1: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
Secondary accessions: A8WBK8 B2R958 Q5T4B8 Q96EW4
Alternative splicing: 2 isoforms:  Q9Y3A0-1   Q9Y3A0-2   

Explore the universe of human proteins at neXtProt for COQ4: NX_Q9Y3A0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y3A0

  • COQ4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_057119.2  
    ENSEMBL proteins: 
     ENSP00000300452   ENSP00000361966  

    Human Recombinant Protein Products: 
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    Novus Biologicals COQ4 Protein
    Novus Biologicals COQ4 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for COQ4

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IEA--


    COQ4 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for COQ4


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

    COQ4 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007715 CoenzQ_biosynthesis_Coq4

    Graphical View of Domain Structure for InterPro Entry Q9Y3A0

    ProtoNet protein and cluster: Q9Y3A0

    1 Blocks protein family: IPB007715 Coenzyme Q biosynthesis Coq4

    UniProtKB/Swiss-Prot: COQ4_HUMAN, Q9Y3A0
    Similarity: Belongs to the COQ4 family


    (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

    Function Summary:

         UniProtKB/Swiss-Prot: COQ4_HUMAN, Q9Y3A0
    Function: Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme
    complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate COQ4:
    hsa-miR-548m
    SwitchGear 3'UTR luciferase reporter plasmidCOQ4 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COQ4 (see all 7)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COQ4

    1 GenomeRNAi human phenotype for COQ4:
     Increased S DNA content 


    (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



    UniProtKB/Swiss-Prot: COQ4_HUMAN, Q9Y3A0
    Pathway: Cofactor biosynthesis; ubiquinone biosynthesis

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COQ4

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

    5/44 Interacting proteins for COQ4 (Q9Y3A03 ENSP000003004524) via UniProtKB, MINT, STRING, and/or I2D (see all 44)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    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--


    COQ4 for ontologies           About GeneDecksing



    (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 COQ4
    Search CenterWatch for drugs/clinical trials and news about COQ4 

    (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 COQ4 gene: 
    NM_016035.3  

    Unigene Cluster for COQ4:

    Coenzyme Q4 homolog (S. cerevisiae)
    Hs.98541  [show with all ESTs]
    Unigene Representative Sequence: AK128853
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000300452(uc004bur.4 uc010mxy.3) ENST00000372875(uc011max.1)
    ENST00000461102

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COQ4
    1 QIAGEN miScript miRNA Assays for microRNA that regulate COQ4:
    hsa-miR-548m
    SwitchGear 3'UTR luciferase reporter plasmidCOQ4 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COQ4 (see all 7)
    OriGene shRNA RFP: COQ4
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COQ4
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COQ4
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    Additional cDNA sequence: 

    AF151850.1 AK025376.1 AK095083.1 AK126646.1 AK128853.1 AK301333.1 AK313650.1 BC011895.2 
    BC036603.1 EU216419.1 EU216420.1 EU216421.1 EU216422.1 EU216423.1 

    15 DOTS entries:

    DT.447450  DT.100823076  DT.91766403  DT.100823077  DT.99952460  DT.87046211  DT.99958266  DT.95150420 
    DT.97768658  DT.121166364  DT.91766402  DT.97855891  DT.100789460  DT.314672  DT.95263226 

    24/258 AceView cDNA sequences (see all 258):

    BG680957 BP871280 AA937091 BF436365 AI283627 CA306121 BM784038 AI199125 
    BQ575020 AW300806 CB137036 CD678629 CR607746 BC011895 AI679444 CR601285 
    CR616941 AI334189 BM766876 AA279332 BF431886 AI658532 AI424398 AA421811 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for COQ4 (see all 12)    About this scheme

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


    ECgene alternative splicing isoforms for COQ4

    (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

    COQ4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGGGATGTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See COQ4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COQ4

    SOURCE GeneReport for Unigene cluster: Hs.98541

    UniProtKB/Swiss-Prot: COQ4_HUMAN, Q9Y3A0
    Tissue specificity: Expressed ubiquitously, but at high levels in liver, lung and pancreas

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for COQ4 gene from 10/34 species (see all 34)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Coq41 , 5 coenzyme Q4 homolog (yeast)1, 5 81.64(n)1
    81.89(a)1
      2 (20.62 cM)5
    2276831  NM_178693.41  NP_848808.11 
     297874935 
    chicken
    (Gallus gallus)
    Aves COQ41 coenzyme Q4 homolog (S. cerevisiae) 69.14(n)
    69.92(a)
      417219  XM_415503.2  XP_415503.2 
    lizard
    (Anolis carolinensis)
    Reptilia COQ46
    --
    68(a)
    1 ↔ 1
    GL343763.1(1067-4816)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.159212 Xenopus laevis transcribed sequence with moderate similarity more 74.33(n)    BJ040057.1 
    zebrafish
    (Danio rerio)
    Actinopterygii coq41 coenzyme Q4 homolog (S. cerevisiae) 61.63(n)
    69.33(a)
      100137123  NM_001114720.1  NP_001108192.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG321741 CG32174 53.59(n)
    46.84(a)
      261607  NM_168732.3  NP_730270.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T03F1.23
    coq-41
    Protein COQ-41 43(a)3
    48.2(n)1
    43.69(a)1
      I(3869223-3870888)3
    1719661  NM_058845.41  NP_491246.41 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COQ4(YDR204W)4
    COQ41
    Protein with a role in ubiquinone (Coenzyme Q) biosynthesis, more4
    Coq4p1
    47.23(n)1
    39.46(a)1
      4(858137-859144)4
    8517851, 4  NP_010490.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G036901 ubiquinone biosynthesis protein COQ4-like protein 46.54(n)
    41.01(a)
      814897  NM_126417.2  NP_178465.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g06742001 hypothetical protein 48.96(n)
    38.28(a)
      4337378  NM_001060772.1  NP_001054237.1 


    ENSEMBL Gene Tree for COQ4 (if available)
    TreeFam Gene Tree for COQ4 (if available) 

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

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

    2 NCBI SNPs in COQ4 are shown     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs340741891,2
    ----100698171(+) AAATG-/CCCCTC 2 P fra10--------
    rs1136041391,2
    ----100698180(+) TCCGGG/CCTAGG 2 /P /A mis11Minor allele frequency- C:0.50CSA 2

    HapMap Linkage Disequilibrium report for COQ4 (131084791 - 131096351 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for COQ4: --
    Human Gene Mutation Database (HGMD): COQ4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COQ4
    DNA2.0 Custom Variant and Variant Library Synthesis for COQ4

    (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

    COQ4 for disorders           About GeneDecksing

    OMIM gene information: 612898    OMIM disorders: --

    1 disease for COQ4:    About MalaCards
    malaria

    Human Genome Epidemiology (HuGE) Navigator: COQ4 (1 document)

    Export disorders for COQ4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for COQ4 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with COQ4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional characterization of human COQ4, a gene required for coenzyme Q10 biosynthesis. (PubMed id 18474229)1, 2 Casarin A.... Salviati L. (2008)
    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. Yeast COQ4 encodes a mitochondrial protein required for coenzyme Q synthesis. (PubMed id 11469793)1, 3 Belogrudov G.I....Clarke C.F. (2001)
    4. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.H....Lin W. (2000)
    5. Haploinsufficiency of COQ4 causes coenzyme Q10 deficie ncy. (PubMed id 22368301)1 Salviati L....Navas P. (2012)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    8. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (2004)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51117 HGNC: 19693 AceView: COQ4 Ensembl:ENSG00000167113 euGenes: HUgn51117
    ECgene: COQ4 H-InvDB: COQ4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COQ4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COQ4 gene:
    Search GeneIP for patents involving COQ4

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