Gene Gene information from NCBI Gene database.
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
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
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.
35
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.
MIM HGNC e!Ensembl
601683 2244 ENSG00000167186
Protein Protein information from UniProt database.
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.
  KEGG 
  Ubiquinone and other terpenoid-quinone biosynthesis
Metabolic pathways
Biosynthesis of cofactors
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neuronopathy, distal hereditary motor, autosomal recessive 9 Pathogenic rs1436765596, rs2509348557, rs1400703292 RCV003336608
RCV003336609
RCV003336610
RCV003336611
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary coenzyme Q10 deficiency 8 Likely pathogenic; Pathogenic rs2142400288, rs864321686, rs138490803, rs2509308079, rs2509349181, rs2509372929, rs1962955145 RCV002249833
RCV000203513
RCV003239277
RCV003335902
RCV003986081
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 8 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COQ7-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COQ7-RELATED DISTAL HEREDITARY MOTOR NEUROPATHY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Clumsiness - motor delay Motor delay HPO_DG
★☆☆☆☆
Found in Text Mining only
COENZYME Q10 DEFICIENCY Coenzyme Q10 Deficiency BEFREE 23255162, 26084283
★☆☆☆☆
Found in Text Mining only
Coenzyme Q10 Deficiency Coenzyme q10 deficiency Pubtator 26084283, 36454683, 37392700 Associate
★☆☆☆☆
Found in Text Mining only
COENZYME Q10 DEFICIENCY, PRIMARY, 8 Coenzyme Q10 Deficiency GENOMICS_ENGLAND_DG 26084283, 28409910, 30369941
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 8 Coenzyme Q10 Deficiency UNIPROT_DG 26084283
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 8 Coenzyme Q10 Deficiency CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 8 Coenzyme Q10 Deficiency CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of lung Pulmonary hypoplasia HPO_DG
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 36454683 Associate
★☆☆☆☆
Found in Text Mining only
Distal Hereditary Motor Neuropathy Type II Distal hereditary motor neuropathy Pubtator 36454683, 37170631 Associate
★☆☆☆☆
Found in Text Mining only