COQ7 (coenzyme Q7, hydroxylase)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 10229
Gene name Coenzyme Q7, hydroxylase
Gene symbol COQ7
Synonyms (NCBI Gene)
CAT5CLK-1CLK1COQ10D8HMNR9
Chromosome 16
Chromosome location 16p12.3
Summary 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
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs864321686 T>A,G Pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
452
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 25961505
GO:0003682 Function Chromatin binding IDA 25961505
GO:0004497 Function Monooxygenase activity IEA
GO:0005515 Function Protein binding IPI 25339443, 27499296, 30661980
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601683 2244 ENSG00000167186
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Expressed dominantly in heart and skeletal muscle. {ECO:0000269|PubMed:10373327}.
Sequence
Sequence length 217
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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 Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neuronopathy, distal hereditary motor, autosomal recessive 9 Pathogenic rs1436765596, rs2509348557, rs1400703292 RCV003336608
RCV003336609
RCV003336610
RCV003336611
Primary coenzyme Q10 deficiency 8 Likely pathogenic; Pathogenic rs2142400288, rs864321686, rs138490803, rs2509308079, rs2509349181, rs2509372929, rs1962955145 RCV002249833
RCV000203513
RCV003239277
RCV003335902
RCV003986081
RCV003986082
RCV001257088
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs141712440 RCV005920883
COQ7-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign rs754900287, rs749144290, rs764235511, rs2509307905, rs2509307586, rs114401101, rs34688983, rs138730205, rs139931303, rs201800620, rs544539636 RCV005869850
RCV003926410
RCV003961106
RCV005871163
RCV003894520
RCV003965619
RCV003913251
RCV003962879
RCV003920536
RCV003913134
RCV003943287
Malignant tumor of esophagus Likely benign rs141712440 RCV005920882
Thymoma Likely benign rs141712440 RCV005920884
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Coenzyme Q10 Deficiency Associate 26084283, 36454683, 37392700
Developmental Disabilities Associate 36454683
Distal Hereditary Motor Neuropathy Type II Associate 36454683, 37170631
Mitochondrial Complex II Deficiency Associate 26084283
Mitochondrial Diseases Associate 26690054, 37170631
Multiple Organ Failure Associate 36454683
Nervous System Diseases Associate 37392700