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] See more...

Aliases for COQ9 Gene

Aliases for COQ9 Gene

  • Coenzyme Q9 2 3 5
  • Ubiquinone Biosynthesis Protein COQ9, Mitochondrial 3 4
  • 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 Coenzyme Q10 Deficiency, Primary, 4. Among its related pathways are Metabolism and Ubiquinol biosynthesis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and lipid binding.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for COQ9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COQ9 Gene

Genomics for COQ9 Gene

GeneHancer (GH) Regulatory Elements for COQ9 Gene

Promoters and enhancers for COQ9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J057446 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 0.0 -24 2.8 SP1 ZBTB40 SIX5 MLX RBPJ POLR2A NR2F1 ATF1 CREB1 HCFC1 CIAPIN1 COQ9 FAM192A NUDT21 ENSG00000261302 CFAP20 BBS2 CSNK2A2 ENSG00000260927 POLR2C
GH16J057482 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 20.3 +37.4 37396 5.3 ZNF24 ZBTB40 LCORL MLX RBPJ POLR2A TCF7L2 NR2F1 NR2F6 L3MBTL2 DOK4 CIAPIN1 COQ9 ENSG00000261302 POLR2C CX3CL1 CCL22 USB1 lnc-CIAPIN1-2
GH16J057477 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 14.1 +32.3 32348 4.2 ZBTB6 MLX RBPJ NR2F6 ELF1 L3MBTL2 POLR2A ZNF652 SP1 ELF3 DOK4 CCDC102A COQ9 CIAPIN1 ENSG00000261270 NLRC5 lnc-CIAPIN1-2
GH16J057298 Promoter/Enhancer 1.8 ENCODE CraniofacialAtlas dbSUPER 10.9 -147.3 -147346 2.8 FOXK2 GTF3C2 SIN3A ZNF24 SP1 ZBTB40 CTCF ZBTB6 FOXA1 RBPJ TRL-CAG2-1 TRL-CAG2-2 RSPRY1 NUDT21 POLR2C CSNK2A2 NLRC5 MT3 FAM192A CCL22
GH16J057506 Enhancer 0.9 FANTOM5 ENCODE CraniofacialAtlas 11.3 +61.5 61543 4.3 SP7 ZIC2 RCOR1 NR2F2 GLIS1 NR2F6 DOK4 POLR2C CIAPIN1 COQ9 ADGRG1 CCDC102A ADGRG5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COQ9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COQ9 gene promoter:
  • AML1a
  • HOXA9
  • HOXA9B
  • Ik-2
  • Meis-1
  • Meis-1a
  • MIF-1
  • MyoD
  • SRY
  • Zic3

Genomic Locations for COQ9 Gene

Genomic Locations for COQ9 Gene
chr16:57,447,425-57,461,275
(GRCh38/hg38)
Size:
13,851 bases
Orientation:
Plus strand
chr16:57,481,337-57,495,187
(GRCh37/hg19)
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

Post-translational modifications for COQ9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for COQ9

No data available for DME Specific Peptides for COQ9 Gene

Domains & Families for COQ9 Gene

Gene Families for COQ9 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for COQ9 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COQ9 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquinone biosynthesis protein COQ9, mitochondrial (COQ9_HUMAN)

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

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.

Phenotypes From GWAS Catalog for COQ9 Gene

Gene Ontology (GO) - Molecular Function for COQ9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25339443
GO:0008289 lipid binding IEA,IDA 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 Coq9<tm1.1Lcl>

Animal Model Products

CRISPR Products

miRNA for COQ9 Gene

miRTarBase miRNAs that target COQ9

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COQ9

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COQ9 gene
Compartment Confidence
mitochondrion 4
cytosol 2
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COQ9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,HDA 20833797
GO:0005743 mitochondrial inner membrane IEA,IBA 21873635
genes like me logo Genes that share ontologies with COQ9: view

Pathways & Interactions for COQ9 Gene

PathCards logo

SuperPathways for COQ9 Gene

genes like me logo Genes that share pathways with COQ9: view

Pathways by source for COQ9 Gene

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:0006120 mitochondrial electron transport, NADH to ubiquinone IEA --
GO:0006744 ubiquinone biosynthetic process IEA,ISS --
genes like me logo Genes that share ontologies with COQ9: view

No data available for 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

mRNA/cDNA for COQ9 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COQ9

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for COQ9 Gene



Protein tissue co-expression partners for COQ9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COQ9 Gene:

COQ9

SOURCE GeneReport for Unigene cluster for COQ9 Gene:

Hs.513632

Evidence on tissue expression from TISSUES for COQ9 Gene

  • Heart(4.7)
  • Liver(4.6)
  • Blood(4.3)
  • Nervous system(4.3)
  • Lung(4.2)
  • Skin(4.2)
  • Muscle(3.4)
  • Kidney(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COQ9 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • head
  • larynx
  • neck
  • vocal cord
Thorax:
  • heart
  • heart valve
  • lung
General:
  • spinal cord
genes like me logo Genes that share expression patterns with COQ9: view

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 33 32
  • 98.84 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COQ9 33 32
  • 90.73 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Coq9 17 33 32
  • 89.6 (n)
rat
(Rattus norvegicus)
Mammalia Coq9 32
  • 89.14 (n)
cow
(Bos Taurus)
Mammalia COQ9 33 32
  • 88.01 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COQ9 33
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COQ9 33
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves COQ9 33 32
  • 71.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COQ9 33
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia coq9 32
  • 65.92 (n)
zebrafish
(Danio rerio)
Actinopterygii coq9 33 32
  • 64.33 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG30493 33 32
  • 48.39 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004842 32
  • 47.33 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL147W 32
  • 44.8 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D12320g 32
  • 40.42 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ9 33 32
  • 38.41 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G19140 32
  • 44.64 (n)
rice
(Oryza sativa)
Liliopsida Os03g0405100 32
  • 48.74 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes coq9 32
  • 45.6 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02403 32
  • 43.58 (n)
Species where no ortholog for COQ9 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for COQ9: view image

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 Variation AA Info Type
rs11547480 uncertain-significance, not provided, Coenzyme Q10 deficiency, primary 57,452,881(+) T/G coding_sequence_variant, missense_variant
rs115677652 benign, uncertain-significance, not specified, Coenzyme Q10 deficiency, primary 57,460,117(+) C/T intron_variant
rs140264612 uncertain-significance, benign, Coenzyme Q10 deficiency, primary, not provided 57,451,045(+) C/G/T coding_sequence_variant, missense_variant
rs181356497 benign, uncertain-significance, not specified, Coenzyme Q10 deficiency, primary 57,451,027(+) G/A intron_variant
rs201238241 uncertain-significance, likely-benign, Coenzyme Q10 deficiency, primary, not specified 57,452,873(+) G/A coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
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)

Additional Variant Information for COQ9 Gene

Human Gene Mutation Database (HGMD)
COQ9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COQ9

SNP Genotyping and Copy Number Assay Products

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

Disorders for COQ9 Gene

MalaCards: The human disease database

(5) MalaCards diseases for COQ9 Gene - From: HGMD, OMIM, ClinVar, GTR, 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.

Additional Disease Information for COQ9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 AJ … Rahman S (American journal of human genetics 2009) 2 3 4 56
  2. Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis. (PMID: 25339443) Lohman DC … Pagliarini DJ (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 56
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  4. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

Products for COQ9 Gene

Sources for COQ9 Gene