COQ9 (coenzyme Q9)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57017
Gene name Gene Name - the full gene name approved by the HGNC.
Coenzyme Q9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COQ9
Synonyms (NCBI Gene) Gene synonyms aliases
C16orf49, COQ10D5
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q21
Summary Summary of gene provided in NCBI Entrez Gene.
This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 defi
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs11547480 T>G Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs76508383 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs143587648 C>G,T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
rs267606751 C>T Pathogenic Stop gained, coding sequence variant
rs547254482 T>C Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(298)
miRTarBase ID miRNA Experiments Reference
MIRT029756 hsa-miR-26b-5p Microarray 19088304
MIRT904501 hsa-miR-1193 CLIP-seq
MIRT904502 hsa-miR-1197 CLIP-seq
MIRT904503 hsa-miR-1266 CLIP-seq
MIRT904504 hsa-miR-1289 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25339443, 27499296, 30661980, 32296183
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 27499296
GO:0005739 Component Mitochondrion IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612837 25302 ENSG00000088682
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID O75208
Protein name Ubiquinone biosynthesis protein COQ9, mitochondrial
Protein function Membrane-associated protein that warps the membrane surface to access and bind aromatic isoprenes with high specificity, including ubiquinone (CoQ) isoprene intermediates and presents them directly to COQ7, therefore facilitating the COQ7-mediat
PDB 4RHP , 6AWL , 6DEW , 7SSP , 7SSS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08511 COQ9 210 → 286 COQ9 Domain
Sequence 
MAAAAVSGALGRAGWRLLQLRCLPVARCRQALVPRAFHASAVGLRSSDEQKQQPPNSFSQ
QHSETQGAEKPDPESSHSPPRYTDQGGEEEEDYESEEQLQHRILTAALEFVPAHGWTAEA
IAEGAQSLGLSSAAASMFGKDGSELILHFVTQCNTRLTRVLEEEQKLVQLGQAEKRKTDQ
FLRDAVETRLRMLIPYIEHWPRALSILMLPHNIPSSLSLLTSMVDDMWHYAGDQSTDFNW
YTRRAMLAAIYNTTELVMMQDSSPDFEDTWRFLENRVNDAMNMGHTAKQVKSTGEALVQG
LMGAAVTLKNLTGLNQRR
Sequence length 318
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome rs267606751, rs786205897 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coenzyme Q10 Deficiency coenzyme q10 deficiency N/A N/A ClinVar
leigh syndrome Leigh syndrome N/A N/A ClinVar
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Lactic Associate 26081641
Brain Diseases Associate 26081641
Infant Newborn Diseases Associate 26081641
Mitochondrial Diseases Associate 19375058