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Aliases for COQ9 Gene

Aliases for COQ9 Gene

  • Coenzyme Q9 2 3 5
  • C16orf49 3 4
  • Chromosome 16 Open Reading Frame 49 2
  • Coenzyme Q9 Homolog (S. Cerevisiae) 2
  • Coenzyme Q9 Homolog (Yeast) 2
  • Coenzyme Q9 Homolog 3
  • COQ10D5 3

External Ids for COQ9 Gene

Previous HGNC Symbols for COQ9 Gene

  • C16orf49

Previous GeneCards Identifiers for COQ9 Gene

  • GC16P056040
  • GC16P057481
  • GC16P043348

Summaries for COQ9 Gene

Entrez Gene Summary for COQ9 Gene

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

GeneCards Summary for COQ9 Gene

COQ9 (Coenzyme Q9) is a Protein Coding gene. Diseases associated with COQ9 include coenzyme q10 deficiency, primary, 5 and encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome. GO annotations related to this gene include protein homodimerization activity and lipid binding.

UniProtKB/Swiss-Prot for COQ9 Gene

  • Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Binds a phospholipid of at least 10 carbons in each acyl group. May be required to present its bound-lipid to COQ7.

Gene Wiki entry for COQ9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COQ9 Gene

Genomics for COQ9 Gene

Regulatory Elements for COQ9 Gene

Promoters for COQ9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COQ9 on UCSC Golden Path with GeneCards custom track

Genomic Location for COQ9 Gene

Chromosome:
16
Start:
57,447,425 bp from pter
End:
57,461,275 bp from pter
Size:
13,851 bases
Orientation:
Plus strand

Genomic View for COQ9 Gene

Genes around COQ9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COQ9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COQ9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COQ9 Gene

Proteins for COQ9 Gene

  • Protein details for COQ9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75208-COQ9_HUMAN
    Recommended name:
    Ubiquinone biosynthesis protein COQ9, mitochondrial
    Protein Accession:
    O75208
    Secondary Accessions:
    • A8K3L2
    • Q7L5V7
    • Q7Z5T6
    • Q8NBL4
    • Q9NTJ2
    • Q9P056

    Protein attributes for COQ9 Gene

    Size:
    318 amino acids
    Molecular mass:
    35509 Da
    Quaternary structure:
    • Homodimer. Interacts with COQ7.
    SequenceCaution:
    • Sequence=AAF29004.1; Type=Frameshift; Positions=26, 133, 138, 141; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COQ9 Gene

    Alternative splice isoforms for COQ9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COQ9 Gene

Proteomics data for COQ9 Gene at MOPED

Post-translational modifications for COQ9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for COQ9 Gene

Domains & Families for COQ9 Gene

Protein Domains for COQ9 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for COQ9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75208

UniProtKB/Swiss-Prot:

COQ9_HUMAN :
  • Structurally similar to the bacterial FadR protein (fatty acid metabolism regulator protein).
  • Belongs to the COQ9 family.
Domain:
  • Structurally similar to the bacterial FadR protein (fatty acid metabolism regulator protein).
Family:
  • Belongs to the COQ9 family.
genes like me logo Genes that share domains with COQ9: view

No data available for Gene Families for COQ9 Gene

Function for COQ9 Gene

Molecular function for COQ9 Gene

UniProtKB/Swiss-Prot Function:
Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Binds a phospholipid of at least 10 carbons in each acyl group. May be required to present its bound-lipid to COQ7.

Gene Ontology (GO) - Molecular Function for COQ9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25339443
GO:0042803 protein homodimerization activity IDA 25339443
genes like me logo Genes that share ontologies with COQ9: view
genes like me logo Genes that share phenotypes with COQ9: view

Human Phenotype Ontology for COQ9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COQ9 Gene

MGI Knock Outs for COQ9:
  • Coq9 tm1a(KOMP)Wtsi

Animal Model Products

miRNA for COQ9 Gene

miRTarBase miRNAs that target COQ9

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COQ9 Gene

Localization for COQ9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COQ9 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COQ9 Gene COMPARTMENTS Subcellular localization image for COQ9 gene
Compartment Confidence
mitochondrion 5
cytosol 3
chloroplast 1
extracellular 1

Gene Ontology (GO) - Cellular Components for COQ9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IBA --
genes like me logo Genes that share ontologies with COQ9: view

Pathways & Interactions for COQ9 Gene

SuperPathways for COQ9 Gene

No Data Available

UniProtKB/Swiss-Prot O75208-COQ9_HUMAN

  • Pathway: Cofactor biosynthesis; ubiquinone biosynthesis.

Gene Ontology (GO) - Biological Process for COQ9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006744 ubiquinone biosynthetic process IEA,ISS --
genes like me logo Genes that share ontologies with COQ9: view

No data available for Pathways by source and SIGNOR curated interactions for COQ9 Gene

Drugs & Compounds for COQ9 Gene

(4) Additional Compounds for COQ9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COQ9: view

Transcripts for COQ9 Gene

Unigene Clusters for COQ9 Gene

Coenzyme Q9 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COQ9 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b · 10c
SP1: - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7: - - - - - -
SP8: - - - - -
SP9: - - -
SP10: -
SP11: -

Relevant External Links for COQ9 Gene

GeneLoc Exon Structure for
COQ9
ECgene alternative splicing isoforms for
COQ9

Expression for COQ9 Gene

mRNA expression in normal human tissues for COQ9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COQ9 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.0).

Protein differential expression in normal tissues from HIPED for COQ9 Gene

This gene is overexpressed in Tonsil (11.0), Heart (9.2), and Serum (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for COQ9 Gene



SOURCE GeneReport for Unigene cluster for COQ9 Gene Hs.513632

genes like me logo Genes that share expression patterns with COQ9: view

Protein tissue co-expression partners for COQ9 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for COQ9 Gene

Orthologs for COQ9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COQ9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COQ9 36
  • 98 (a)
OneToOne
COQ9 35
  • 98.84 (n)
  • 98.42 (a)
cow
(Bos Taurus)
Mammalia COQ9 36
  • 88 (a)
OneToOne
COQ9 35
  • 88.01 (n)
  • 88.33 (a)
dog
(Canis familiaris)
Mammalia COQ9 35
  • 90.73 (n)
  • 91.69 (a)
COQ9 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Coq9 16
Coq9 35
  • 89.6 (n)
  • 92.6 (a)
Coq9 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COQ9 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COQ9 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Coq9 35
  • 89.14 (n)
  • 90.32 (a)
chicken
(Gallus gallus)
Aves COQ9 35
  • 71.34 (n)
  • 71.34 (a)
COQ9 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COQ9 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia coq9 35
  • 65.92 (n)
  • 67.41 (a)
zebrafish
(Danio rerio)
Actinopterygii coq9 36
  • 53 (a)
OneToOne
coq9 35
  • 64.33 (n)
  • 62.46 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004842 35
  • 47.33 (n)
  • 44.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG30493 35
  • 48.39 (n)
  • 37.79 (a)
CG30493 36
  • 31 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL147W 35
  • 44.8 (n)
  • 31.18 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ9 35
  • 38.41 (n)
  • 27.17 (a)
COQ9 36
  • 24 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D12320g 35
  • 40.42 (n)
  • 34.48 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G19140 35
  • 44.64 (n)
  • 32.16 (a)
rice
(Oryza sativa)
Liliopsida Os03g0405100 35
  • 48.74 (n)
  • 38.19 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02403 35
  • 43.58 (n)
  • 34.37 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes coq9 35
  • 45.6 (n)
  • 38.65 (a)
Species with no ortholog for COQ9:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for COQ9 Gene

ENSEMBL:
Gene Tree for COQ9 (if available)
TreeFam:
Gene Tree for COQ9 (if available)

Paralogs for COQ9 Gene

No data available for Paralogs for COQ9 Gene

Variants for COQ9 Gene

Sequence variations from dbSNP and Humsavar for COQ9 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs223866 -- 57,457,613(+) CTACT(A/G)AGCAC intron-variant
rs223867 -- 57,458,084(+) GTCAG(C/T)ATTGC intron-variant
rs223868 -- 57,460,266(+) AAACC(C/T)CACTT intron-variant
rs183421 -- 57,454,297(+) taagt(A/G)catca intron-variant
rs686402 -- 57,452,701(+) CTTCC(C/T)AGCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COQ9 Gene

Variant ID Type Subtype PubMed ID
nsv906724 CNV Loss 21882294
nsv833245 CNV Loss 17160897

Variation tolerance for COQ9 Gene

Residual Variation Intolerance Score: 86.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.37; 53.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COQ9 Gene

HapMap Linkage Disequilibrium report
COQ9
Human Gene Mutation Database (HGMD)
COQ9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COQ9 Gene

Disorders for COQ9 Gene

MalaCards: The human disease database

(10) MalaCards diseases for COQ9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search COQ9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COQ9_HUMAN
  • Coenzyme Q10 deficiency, primary, 5 (COQ10D5) [MIM:614654]: A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. {ECO:0000269 PubMed:19375058}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COQ9

Genetic Association Database (GAD)
COQ9
Human Genome Epidemiology (HuGE) Navigator
COQ9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COQ9
genes like me logo Genes that share disorders with COQ9: view

No data available for Genatlas for COQ9 Gene

Publications for COQ9 Gene

  1. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. (PMID: 19375058) Duncan A.J. … Rahman S. (Am. J. Hum. Genet. 2009) 2 3 4 67
  2. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  3. Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis. (PMID: 25339443) Lohman D.C. … Pagliarini D.J. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  4. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3
  5. Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes. (PMID: 20833797) Zhao X. … Jensen O.N. (Mol. Cell Proteomics 2011) 3

Products for COQ9 Gene

Sources for COQ9 Gene

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