COQ3 Gene (Protein Coding)

Coenzyme Q3, Methyltransferase

GC06M099369
GIFtS:
41
Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The qu... See more...

Aliases for COQ3 Gene

Aliases for COQ3 Gene

  • Coenzyme Q3, Methyltransferase 2 3 5
  • Polyprenyldihydroxybenzoate Methyltransferase 2 3 4
  • Ubiquinone Biosynthesis O-Methyltransferase, Mitochondrial 3 4
  • 3-Demethylubiquinol 3-O-Methyltransferase 3 4
  • BA9819.1 2 3
  • Hexaprenyldihydroxybenzoate Methyltransferase, Mitochondrial 3
  • Coenzyme Q3 Homolog, Methyltransferase (S. Cerevisiae) 2
  • 3,4-Dihydroxy-5-Hexaprenylbenzoate Methyltransferase 3
  • Coenzyme Q3 Homolog, Methyltransferase (Yeast) 2
  • Dihydroxyhexaprenylbenzoate Methyltransferase 3
  • 3-Demethylubiquinone-10 3-Methyltransferase 3
  • 2-Polyprenyl-6-Hydroxyphenol Methylase 3
  • 2-Polyprenyl-6-Hydroxyphenyl Methylase 3
  • Coenzyme Q3 Homolog, Methyltransferase 3
  • DHHB Methyltransferase 3
  • Methyltransferase COQ3 3
  • EC 2.1.1.114 4
  • EC 2.1.1.64 4
  • DHHB-MTase 3
  • DHHBMTASE 3
  • UG0215E05 3
  • EC 2.1.1 50
  • DHHBMT 3
  • COQ3 5

External Ids for COQ3 Gene

Previous GeneCards Identifiers for COQ3 Gene

  • GC06M099685
  • GC06M099833
  • GC06M099862
  • GC06M099923
  • GC06M099817
  • GC06M097257

Summaries for COQ3 Gene

Entrez Gene Summary for COQ3 Gene

  • Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.[supplied by OMIM, Mar 2008]

GeneCards Summary for COQ3 Gene

COQ3 (Coenzyme Q3, Methyltransferase) is a Protein Coding gene. Diseases associated with COQ3 include Coenzyme Q10 Deficiency, Primary, 4 and Interstitial Nephritis, Karyomegalic. Among its related pathways are Ubiquinol biosynthesis and Biosynthesis of cofactors. Gene Ontology (GO) annotations related to this gene include methyltransferase activity and S-adenosylmethionine-dependent methyltransferase activity.

UniProtKB/Swiss-Prot Summary for COQ3 Gene

  • O-methyltransferase that catalyzes the 2 O-methylation steps in the ubiquinone biosynthetic pathway.

Additional gene information for COQ3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COQ3 Gene

Genomics for COQ3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for COQ3 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
GH06J099393 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.2 223 2 BCLAF1 ZNF207 ZNF600 SIX5 ZNF580 POLR2A BRCA1 YY1 KLF11 SMAD5 COQ3 lnc-PNISR-1 ENSG00000228506 RPS3P5 HSALNG0052180 FAXC
GH06J099349 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 11.2 +44.6 44622 2.8 ZNF600 ZNF580 POLR2A ZIC2 SIN3A ZNF513 GABPB1 KLF16 CTCF ZNF2 FAXC ENSG00000228506 RPS3P5 PNISR COQ3 piR-43107-263 FBXL4
GH06J099329 Enhancer 0.9 FANTOM5 Ensembl 11.4 +64.0 63997 0.7 ZNF654 REST TRIM22 CTCF NR2C1 ZNF217 RAD21 SMC3 BATF NR2F1 COQ3 FAXC POU3F2 piR-43107-263 FBXL4
GH06J099417 Enhancer 0.6 ENCODE 12.2 -23.2 -23208 0.7 PRDM6 BHLHE40 BATF IKZF1 JUNB BACH1 IKZF2 MTA2 DPF2 RELB COQ3 ENSG00000228506 lnc-COQ3-1 LOC101927365 TSTD3 lnc-USP45-2 PNISR
GH06J099331 Enhancer 0.4 Ensembl 11.4 +62.5 62522 0.2 RAD51 MEIS2 PKNOX1 COQ3 FAXC piR-43107-263 FBXL4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COQ3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COQ3

Top Transcription factor binding sites by QIAGEN in the COQ3 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5

Genomic Locations for COQ3 Gene

Latest Assembly
chr6:99,369,401-99,394,223
(GRCh38/hg38)
Size:
24,823 bases
Orientation:
Minus strand

Previous Assembly
chr6:99,817,277-99,842,071
(GRCh37/hg19 by Entrez Gene)
Size:
24,795 bases
Orientation:
Minus strand

chr6:99,817,276-99,842,080
(GRCh37/hg19 by Ensembl)
Size:
24,805 bases
Orientation:
Minus strand

Genomic View for COQ3 Gene

Genes around COQ3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COQ3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COQ3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for COQ3 Gene

Proteins for COQ3 Gene

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  1. Antibodies for research
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  3. Assay products for research

  • Protein details for COQ3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZJ6-COQ3_HUMAN
    Recommended name:
    Ubiquinone biosynthesis O-methyltransferase, mitochondrial
    Protein Accession:
    Q9NZJ6
    Secondary Accessions:
    • B3KPX0
    • Q5T061
    • Q6P4F0
    • Q8IXG6
    • Q96BG1
    • Q9H0N1

    Protein attributes for COQ3 Gene

    Size:
    369 amino acids
    Molecular mass:
    41054 Da
    Quaternary structure:
    • Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9.
    SequenceCaution:
    • Sequence=AAF66826.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for COQ3 Gene

Protein Expression for COQ3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for COQ3 Gene

Q9NZJ6:
  • LDVGCGGG
  • ILDVGCG

Post-translational modifications for COQ3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COQ3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for COQ3 Gene

Gene Families for COQ3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for COQ3 Gene

InterPro:

Suggested Antigen Peptide Sequences for COQ3 Gene

GenScript: Design optimal peptide antigens:
  • Dihydroxyhexaprenylbenzoate methyltransferase (COQ3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NZJ6

UniProtKB/Swiss-Prot:

COQ3_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. UbiG/COQ3 family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. UbiG/COQ3 family.
genes like me logo Genes that share domains with COQ3: view

Function for COQ3 Gene

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  6. Cell Lines for research

Molecular function for COQ3 Gene

UniProtKB/Swiss-Prot Function:
O-methyltransferase that catalyzes the 2 O-methylation steps in the ubiquinone biosynthetic pathway.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3,4-dihydroxy-5-all-trans-polyprenylbenzoate + S-adenosyl-L-methionine = 3-methoxy,4-hydroxy-5-all-trans-polyprenylbenzoate + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:44452, Rhea:RHEA-COMP:10930, Rhea:RHEA-COMP:10931, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:64694, ChEBI:CHEBI:84443; EC=2.1.1.114; Evidence={ECO:0000255|HAMAP-Rule:MF_03190, ECO:0000269|PubMed:10777520};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3-demethylubiquinol + S-adenosyl-L-methionine = a ubiquinol + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:44380, Rhea:RHEA-COMP:9566, Rhea:RHEA-COMP:10914, ChEBI:CHEBI:15378, ChEBI:CHEBI:17976, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:84422; EC=2.1.1.64; Evidence={ECO:0000255|HAMAP-Rule:MF_03190, ECO:0000269|PubMed:10777520};.

Enzyme Numbers (IUBMB) for COQ3 Gene

Phenotypes From GWAS Catalog for COQ3 Gene

Gene Ontology (GO) - Molecular Function for COQ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004395 hexaprenyldihydroxybenzoate methyltransferase activity IEA --
GO:0005515 protein binding IPI 27499296
GO:0008168 methyltransferase activity IEA --
GO:0008171 O-methyltransferase activity IGI 10777520
GO:0008425 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity IEA --
genes like me logo Genes that share ontologies with COQ3: view
genes like me logo Genes that share phenotypes with COQ3: view

Animal Models for COQ3 Gene

MGI Knock Outs for COQ3:

Animal Models for research

  • Taconic Biosciences Mouse Models for COQ3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COQ3

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COQ3 Gene

Localization for COQ3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COQ3 Gene

Mitochondrion inner membrane. Peripheral membrane protein. Matrix side.

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 COQ3 gene
Compartment Confidence
mitochondrion 5
nucleus 3
peroxisome 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COQ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 10777520
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
GO:0031314 extrinsic component of mitochondrial inner membrane IEA --
genes like me logo Genes that share ontologies with COQ3: view

Pathways & Interactions for COQ3 Gene

genes like me logo Genes that share pathways with COQ3: view

Pathways by source for COQ3 Gene

1 BioSystems pathway for COQ3 Gene

UniProtKB/Swiss-Prot Q9NZJ6-COQ3_HUMAN

  • Pathway: Cofactor biosynthesis; ubiquinone biosynthesis.

Gene Ontology (GO) - Biological Process for COQ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006071 glycerol metabolic process IGI 10777520
GO:0006744 ubiquinone biosynthetic process IEA,TAS --
GO:0010795 regulation of ubiquinone biosynthetic process IEA --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with COQ3: view

No data available for SIGNOR curated interactions for COQ3 Gene

Drugs & Compounds for COQ3 Gene

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(3) Drugs for COQ3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0

(12) Additional Compounds for COQ3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Hexaprenyl-3-methyl-5-hydroxy-6-methoxy-1,4-benzoquinol
  • Demethyl-ubiquinol-6
2-Hexaprenyl-3-methyl-5-hydroxy-6-methoxy-1,4-benzoquinone
2-Polyprenyl-3-methyl-5-hydroxy-6-methoxy-1,4-benzoquinone
3-Demethylubiquinone-9
3-Hexaprenyl-4,5-Dihydroxybenzoic acid
  • 3-Hexaprenyl-4,5-dihydroxybenzoate
  • 3,4-Dihydroxy-5-hexaprenylbenzoate
  • 3,4-Dihydroxy-5-hexaprenylbenzoic acid
  • Dhhpba
 63975-40-6
genes like me logo Genes that share compounds with COQ3: view

Transcripts for COQ3 Gene

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  3. Inhibitory RNAs for research
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mRNA/cDNA for COQ3 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COQ3

Alternative Splicing Database (ASD) splice patterns (SP) for COQ3 Gene

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

Relevant External Links for COQ3 Gene

GeneLoc Exon Structure for
COQ3

Expression for COQ3 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COQ3 Gene

mRNA expression in normal human tissues for COQ3 Gene
mRNA expression by GTEx for COQ3 GenemRNA expression by BioGPS for COQ3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COQ3 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.2).

Protein differential expression in normal tissues from HIPED for COQ3 Gene

This gene is overexpressed in Heart (22.2), Breast (11.5), and Tonsil (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COQ3 Gene



Protein tissue co-expression partners for COQ3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COQ3

SOURCE GeneReport for Unigene cluster for COQ3 Gene:

Hs.713623

Evidence on tissue expression from TISSUES for COQ3 Gene

  • Nervous system(4.5)
  • Kidney(4.5)
  • Skin(4.5)
  • Muscle(4.4)
  • Liver(4.4)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with COQ3: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COQ3 Gene

Orthologs for COQ3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COQ3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia COQ3 29 30
  • 99.46 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia COQ3 29 30
  • 86.21 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia COQ3 29 30
  • 85.73 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Coq3 29
  • 83.57 (n)
Mouse
(Mus musculus)
 Mammalia Coq3 29 16 30
  • 78.56 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia COQ3 30
  • 66 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia COQ3 30
  • 52 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves COQ3 29 30
  • 70.14 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia COQ3 30
  • 64 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia coq3 29
  • 65.54 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.22548 29
Zebrafish
(Danio rerio)
 Actinopterygii coq3 29 30
  • 61.15 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.4935 29
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010537 29
  • 49.87 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG9249 29 30 31
  • 49.47 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea coq-3 29 30
  • 47.68 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0C03630g 29
  • 46.05 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes COQ3 29 30 32
  • 45.49 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ADR115W 29
  • 44.12 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons COQ3 29
  • 51.42 (n)
Rice
(Oryza sativa)
 Liliopsida Os06g0152300 29
  • 53.14 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes coq3 29
  • 47.42 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU05982 29
  • 44.07 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 38 (a)
 OneToOne
Species where no ortholog for COQ3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 COQ3 Gene

ENSEMBL:
Gene Tree for COQ3 (if available)
TreeFam:
Gene Tree for COQ3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COQ3: view image
Alliance of Genome Resources:
Additional Orthologs for COQ3

Paralogs for COQ3 Gene

No data available for Paralogs for COQ3 Gene

Variants for COQ3 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COQ3 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs138873880 Likely Benign: not provided 99,376,065(-) C/T
NM_017421.4(COQ3):c.604G>A (p.Val202Met) 		MISSENSE
rs11548336 -- p.Lys134Glu
rs4144164 -- p.Tyr329His
rs6925344 -- p.Ser272Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for COQ3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for COQ3 Gene

Variant ID Type Subtype PubMed ID
dgv1819e212 CNV loss 25503493
esv3571319 CNV loss 25503493
esv3890914 CNV loss 25118596
nsv1029536 CNV loss 25217958
nsv1117658 CNV deletion 24896259
nsv527517 CNV loss 19592680

Variation tolerance for COQ3 Gene

Residual Variation Intolerance Score: 87.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.82; 91.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COQ3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COQ3
Leiden Open Variation Database (LOVD)
COQ3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COQ3 Gene

Disorders for COQ3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for COQ3 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search COQ3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for COQ3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with COQ3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COQ3 Gene

Publications for COQ3 Gene

  1. Isolation and functional expression of human COQ3, a gene encoding a methyltransferase required for ubiquinone biosynthesis. (PMID: 10777520) Jonassen T … Clarke CF (The Journal of biological chemistry 2000) 2 3 4 22
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  3. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PMID: 19161160) Franke B … Blom HJ (Birth defects research. Part A, Clinical and molecular teratology 2009) 3 40
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

ExternalLinks

View latest publications for COQ3 gene in Mastermind

Products for COQ3 Gene

Sources for COQ3 Gene