Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10229
Gene name Gene Name - the full gene name approved by the HGNC.
Coenzyme Q7, hydroxylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COQ7
Synonyms (NCBI Gene) Gene synonyms aliases
CAT5, CLK-1, CLK1, COQ10D8, HMNR9
Disease Acronyms (UniProt) Disease acronyms from UniProt database
COQ10D8, HMNR9
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p12.3
Summary Summary 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
SNPs SNP information provided by dbSNP.
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.
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.
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601683 2244 ENSG00000167186
Protein
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
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Coenzyme q10 deficiency COENZYME Q10 DEFICIENCY, PRIMARY, 8 rs118203955, rs121918230, rs121918231, rs121918233, 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
View all (32 more)
Hypertension Hypertensive disease rs13306026
Left ventricular hypertrophy Left Ventricular Hypertrophy rs397516037
Unknown
Disease term Disease name Evidence References Source
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Renal dysplasia Renal Cell Dysplasia, Renal dysplasia ClinVar
Coenzyme Q10 Deficiency primary coenzyme Q10 deficiency 8 GenCC
Associations from Text Mining
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