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Aliases for COQ6 Gene

Aliases for COQ6 Gene

  • Coenzyme Q6, Monooxygenase 2 3
  • Coenzyme Q6 Monooxygenase 2 3 5
  • Coenzyme Q10 Monooxygenase 6 3 4
  • Coenzyme Q6 Homolog, Monooxygenase (S. Cerevisiae) 2
  • Coenzyme Q6 Homolog, Monooxygenase (Yeast) 2
  • Coenzyme Q6 Homolog, Monooxygenase 3
  • Coenzyme Q6 Homolog (Yeast) 2
  • EC 1.14.13.- 4
  • EC 1.14.13 63
  • COQ10D6 3
  • CGI-10 3
  • CGI10 3

External Ids for COQ6 Gene

Previous GeneCards Identifiers for COQ6 Gene

  • GC14P068212
  • GC14P072406
  • GC14P073486
  • GC14P074416
  • GC14P054583

Summaries for COQ6 Gene

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 familial steroid-resistant nephrotic syndrome with sensorineural deafness. Among its related pathways are Metabolism and Ubiquinol biosynthesis. GO annotations related to this gene include flavin adenine dinucleotide binding and 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.

UniProtKB/Swiss-Prot for COQ6 Gene

  • FAD-dependent monooxygenase required for the C5-ring hydroxylation during ubiquinone biosynthesis. Catalyzes the hydroxylation of 3-polyprenyl-4-hydroxybenzoic acid to 3-polyprenyl-4,5-dihydroxybenzoic acid. The electrons required for the hydroxylation reaction may be funneled indirectly from NADPH via a ferredoxin/ferredoxin reductase system to COQ6.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COQ6 Gene

Genomics for COQ6 Gene

Regulatory Elements for COQ6 Gene

Promoters for COQ6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COQ6 on UCSC Golden Path with GeneCards custom track

Genomic Location for COQ6 Gene

Chromosome:
14
Start:
73,949,926 bp from pter
End:
73,963,670 bp from pter
Size:
13,745 bases
Orientation:
Plus strand

Genomic View for COQ6 Gene

Genes around COQ6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COQ6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COQ6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COQ6 Gene

Proteins for COQ6 Gene

  • Protein details for COQ6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2Z9-COQ6_HUMAN
    Recommended name:
    Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial
    Protein Accession:
    Q9Y2Z9
    Secondary Accessions:
    • B7Z3K8
    • Q53GG6
    • Q86U30
    • Q96CA1
    • Q96CK2

    Protein attributes for COQ6 Gene

    Size:
    468 amino acids
    Molecular mass:
    50870 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9 (By similarity). Interacts with ADCK4 and COQ7 (PubMed:24270420).

    Alternative splice isoforms for COQ6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COQ6 Gene

Proteomics data for COQ6 Gene at MOPED

Selected DME Specific Peptides for COQ6 Gene

Post-translational modifications for COQ6 Gene

  • Ubiquitination at Lys 78
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for COQ6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2Z9

UniProtKB/Swiss-Prot:

COQ6_HUMAN :
  • Belongs to the UbiH/COQ6 family.
Family:
  • Belongs to the UbiH/COQ6 family.
genes like me logo Genes that share domains with COQ6: view

No data available for Gene Families for COQ6 Gene

Function for COQ6 Gene

Molecular function for COQ6 Gene

UniProtKB/Swiss-Prot Function:
FAD-dependent monooxygenase required for the C5-ring hydroxylation during ubiquinone biosynthesis. Catalyzes the hydroxylation of 3-polyprenyl-4-hydroxybenzoic acid to 3-polyprenyl-4,5-dihydroxybenzoic acid. The electrons required for the hydroxylation reaction may be funneled indirectly from NADPH via a ferredoxin/ferredoxin reductase system to COQ6.

Enzyme Numbers (IUBMB) for COQ6 Gene

Gene Ontology (GO) - Molecular Function for COQ6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IBA --
GO:0071949 FAD binding IEA --
genes like me logo Genes that share ontologies with COQ6: view

Phenotypes for COQ6 Gene

GenomeRNAi human phenotypes for COQ6:
MGI mutant phenotypes for COQ6:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with COQ6: view

Human Phenotype Ontology for COQ6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COQ6 Gene

MGI Knock Outs for COQ6:
  • Coq6 tm1b(EUCOMM)Hmgu

Animal Model Products

miRNA for COQ6 Gene

miRTarBase miRNAs that target COQ6

No data available for Transcription Factor Targets and HOMER Transcription for COQ6 Gene

Localization for COQ6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COQ6 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side. Golgi apparatus. Cell projection. Note=Localizes to cell processes and Golgi apparatus in podocytes. {ECO:0000255 HAMAP-Rule:MF_03193}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COQ6 Gene COMPARTMENTS Subcellular localization image for COQ6 gene
Compartment Confidence
mitochondrion 5
golgi apparatus 3

No data available for Gene Ontology (GO) - Cellular Components for COQ6 Gene

Pathways & Interactions for COQ6 Gene

genes like me logo Genes that share pathways with COQ6: view

Pathways by source for COQ6 Gene

UniProtKB/Swiss-Prot Q9Y2Z9-COQ6_HUMAN

  • Pathway: Cofactor biosynthesis; ubiquinone biosynthesis.

Gene Ontology (GO) - Biological Process for COQ6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006744 ubiquinone biosynthetic process IEA --
GO:0044550 secondary metabolite biosynthetic process IBA --
genes like me logo Genes that share ontologies with COQ6: view

No data available for SIGNOR curated interactions for COQ6 Gene

Drugs & Compounds for COQ6 Gene

(1) Drugs for COQ6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0

(7) Additional Compounds for COQ6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Hexaprenyl-6-methoxy-1,4-benzoquinone
  • 2-Polyprenyl-6-methoxy-1,4-benzoquinol
  • DDMQH2
2-Hexaprenyl-6-methoxyphenol
2-Polyprenyl-6-methoxy-1,4-benzoquinone
2-Polyprenyl-6-methoxyphenol
Difucosyllactohexaose
  • DFH
  • O-6-Deoxy-alpha-L-galactopyranosyl-(1->3)-O-[beta-D-galactopyranosyl-(1->4)]-O-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->3)-O-[O-6-deoxy-alpha-L-galactopyranosyl-(1->3)-O-[beta-D-galactopyranosyl-(1->4)]-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->6)]-O-beta-D-galactopyranosyl-(1->4)- D-Glucose
  • O-6-Deoxy-alpha-L-galactopyranosyl-(1->3)-O-[beta-delta-galactopyranosyl-(1->4)]-O-2-(acetylamino)-2-deoxy-beta-delta-glucopyranosyl-(1->3)-O-[O-6-deoxy-alpha-L-galactopyranosyl-(1->3)-O-[beta-delta-galactopyranosyl-(1->4)]-2-(acetylamino)-2-deoxy-beta-delta-glucopyranosyl-(1->6)]-O-beta-delta-galactopyranosyl-(1->4)- D-Glucose
115236-57-2
genes like me logo Genes that share compounds with COQ6: view

Transcripts for COQ6 Gene

Unigene Clusters for COQ6 Gene

Coenzyme Q6 homolog, monooxygenase (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COQ6 Gene

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:
SP6: - - -
SP7: - - - - - - -
SP8: -
SP9: - -
SP10:
SP11: -

ExUns: 14b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for COQ6 Gene

GeneLoc Exon Structure for
COQ6
ECgene alternative splicing isoforms for
COQ6

Expression for COQ6 Gene

mRNA expression in normal human tissues for COQ6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COQ6 Gene

This gene is overexpressed in CD4 Tcells (42.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for COQ6 Gene



SOURCE GeneReport for Unigene cluster for COQ6 Gene Hs.131555

mRNA Expression by UniProt/SwissProt for COQ6 Gene

Q9Y2Z9-COQ6_HUMAN
Tissue specificity: Widely epressed.
genes like me logo Genes that share expression patterns with COQ6: view

Protein tissue co-expression partners for COQ6 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for COQ6 Gene

Orthologs for COQ6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COQ6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COQ6 36
  • 99 (a)
OneToOne
COQ6 35
  • 99.57 (n)
  • 99.15 (a)
cow
(Bos Taurus)
Mammalia COQ6 35
  • 89.03 (n)
  • 89.53 (a)
COQ6 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COQ6 36
  • 92 (a)
OneToOne
COQ6 35
  • 90.24 (n)
  • 92.31 (a)
mouse
(Mus musculus)
Mammalia Coq6 16
Coq6 36
  • 86 (a)
OneToOne
Coq6 35
  • 85.33 (n)
  • 87.61 (a)
oppossum
(Monodelphis domestica)
Mammalia COQ6 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Coq6 35
  • 85.61 (n)
  • 86.75 (a)
chicken
(Gallus gallus)
Aves COQ6 35
  • 71.03 (n)
  • 72.32 (a)
COQ6 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COQ6 36
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24462 35
tropical clawed frog
(Silurana tropicalis)
Amphibia coq6 35
  • 68.74 (n)
  • 71.43 (a)
Str.3621 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3589 35
zebrafish
(Danio rerio)
Actinopterygii coq6 36
  • 62 (a)
OneToOne
coq6 35
  • 66.59 (n)
  • 66.89 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000106 35
  • 50.91 (n)
  • 47.73 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7277 35
  • 51.49 (n)
  • 44.8 (a)
CG7277 36
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea coq-6 35
  • 47.55 (n)
  • 42.18 (a)
coq-6 36
  • 39 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR648W 35
  • 44.77 (n)
  • 37.23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ6 35
  • 44.56 (n)
  • 36.03 (a)
COQ6 36
  • 30 (a)
OneToOne
COQ6 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C02761g 35
  • 46.05 (n)
  • 39.36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G24200 35
  • 48.51 (n)
  • 37.63 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.9662 35
rice
(Oryza sativa)
Liliopsida Os03g0839100 35
  • 47.67 (n)
  • 37.68 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02536 35
  • 48.09 (n)
  • 40.89 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes coq6 35
  • 43.25 (n)
  • 36.73 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToOne
Species with no ortholog for COQ6:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COQ6 Gene

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

Paralogs for COQ6 Gene

Pseudogenes.org Pseudogenes for COQ6 Gene

genes like me logo Genes that share paralogs with COQ6: view

No data available for Paralogs for COQ6 Gene

Variants for COQ6 Gene

Sequence variations from dbSNP and Humsavar for COQ6 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_014953 -
VAR_033813 -
VAR_033814 -
VAR_052691 -
VAR_068216 Coenzyme Q10 deficiency, primary, 6 (COQ10D6)

Structural Variations from Database of Genomic Variants (DGV) for COQ6 Gene

Variant ID Type Subtype PubMed ID
nsv1352 CNV Loss 18451855
nsv456339 CNV Loss 19166990
nsv524396 CNV Gain 19592680

Variation tolerance for COQ6 Gene

Residual Variation Intolerance Score: 87.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.64; 95.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COQ6 Gene

HapMap Linkage Disequilibrium report
COQ6
Human Gene Mutation Database (HGMD)
COQ6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COQ6 Gene

Disorders for COQ6 Gene

MalaCards: The human disease database

(10) MalaCards diseases for COQ6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
coenzyme q10 deficiency, primary, 6
  • srns with sensorineural deafness
familial steroid-resistant nephrotic syndrome with sensorineural deafness
coq6-related coenzyme q10 deficiency
  • coenzyme q10 deficiency, primary, 6, coq10d6
focal segmental glomerulosclerosis 9
  • glomerulosclerosis, focal segmental, 9
schwannomatosis
  • schwannomatosis-1
- elite association - COSMIC cancer census association via MalaCards
Search COQ6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COQ6_HUMAN
  • 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. {ECO:0000269 PubMed:21540551}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Mutations in COQ6 may play a role in susceptibility to Schwannomatosis, a cancer predisposition syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves. {ECO:0000269 PubMed:24763291}.

Relevant External Links for COQ6

Genetic Association Database (GAD)
COQ6
Human Genome Epidemiology (HuGE) Navigator
COQ6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COQ6
genes like me logo Genes that share disorders with COQ6: view

No data available for Genatlas for COQ6 Gene

Publications for COQ6 Gene

  1. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. (PMID: 21540551) Heeringa S.F. … Hildebrandt F. (J. Clin. Invest. 2011) 2 3 4 67
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  3. A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis. (PMID: 24763291) Zhang K. … Yen Y. (Genet. Med. 2014) 3
  4. An important role for CDK2 in G1 to S checkpoint activation and DNA damage response in human embryonic stem cells. (PMID: 21319273) Neganova I. … Lako M. (Stem Cells 2011) 3
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3

Products for COQ6 Gene

Sources for COQ6 Gene

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