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COQ7 (coenzyme Q7, hydroxylase)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10229
Gene nameGene Name - the full gene name approved by the HGNC.
Coenzyme Q7, hydroxylase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
COQ7
SynonymsGene synonyms aliases
CAT5, CLK-1, CLK1, COQ10D8, HMNR9
ChromosomeChromosome number
16
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p12.3
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternati
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs864321686 T>A,G Pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT710860 hsa-miR-3622a-3p HITS-CLIP 19536157
MIRT710859 hsa-miR-3622b-3p HITS-CLIP 19536157
MIRT710858 hsa-miR-6765-3p HITS-CLIP 19536157
MIRT710857 hsa-miR-4742-3p HITS-CLIP 19536157
MIRT710856 hsa-miR-137 HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25339443, 27499296
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus IDA
GO:0005743 Component Mitochondrial inner membrane IBA 21873635
GO:0006744 Process Ubiquinone biosynthetic process IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q99807
Protein name NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial (EC 1.14.13.253) (3-demethoxyubiquinone 3-hydroxylase (NADH)) (Timing protein clk-1 homolog) (Ubiquinone biosynthesis monooxygenase COQ7)
Protein function Catalyzes the hydroxylation of the 5-methoxy-2-methyl-3-(all-trans-polyprenyl)benzoquinone at the C6 position and participates in the biosynthesis of ubiquinone (Probable). Catalyzes the reaction through a substrate-mediated reduction pathway, w
PDB 7SSP , 7SSS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03232 COQ7
48 → 217
Ubiquinone biosynthesis protein COQ7
 Domain
Sequence
Sequence length 217
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
  Ubiquinone and other terpenoid-quinone biosynthesis
Metabolic pathways
Biosynthesis of cofactors 		 
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Coenzyme q10 deficiency COENZYME Q10 DEFICIENCY, PRIMARY, 8 rs118203955, rs121918230, rs121918231, rs121918233, rs751185256, rs864321686, rs750710187, rs1057519348, rs1558212305, rs1577993720 28409910, 26084283, 30369941
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypertension Hypertensive disease rs13306026, rs13333226
Left ventricular hypertrophy Left Ventricular Hypertrophy rs397516037
Unknown
Disease name Disease term dbSNP ID References
Pulmonary hypoplasia Congenital hypoplasia of lung rs1569032634
Motor delay Clumsiness - motor delay

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