Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84274
Gene name Gene Name - the full gene name approved by the HGNC.
Coenzyme Q5, methyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COQ5
Synonyms (NCBI Gene) Gene synonyms aliases
COQ10D9
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.31
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT904429 hsa-miR-1202 CLIP-seq
MIRT904430 hsa-miR-205 CLIP-seq
MIRT904431 hsa-miR-362-5p CLIP-seq
MIRT904432 hsa-miR-3672 CLIP-seq
MIRT904433 hsa-miR-3972 CLIP-seq
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 25152161, 27499296, 35614220
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 25152161
GO:0005743 Component Mitochondrial inner membrane IDA 27499296
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616359 28722 ENSG00000110871
Protein
UniProt ID Q5HYK3
Protein name 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial (EC 2.1.1.201) (Ubiquinone biosynthesis methyltransferase COQ5)
Protein function Methyltransferase required for the conversion of 2-decaprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-decaprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01209 Ubie_methyltran 57 326 ubiE/COQ5 methyltransferase family Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in liver, lung, placenta and skeletal muscle. {ECO:0000269|PubMed:25152161}.
Sequence
Sequence length 327
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
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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, primary, 9 N/A N/A GenCC
Glioblastoma Glioblastoma N/A N/A GWAS
Neurodevelopmental Disorders neurodevelopmental disorder N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anorchia Associate 37599337
Brain Diseases Associate 37599337
Cerebellar Ataxia Associate 37599337
Cerebellar Diseases Associate 37599337
Coenzyme Q10 Deficiency Associate 29044765
Developmental Disabilities Associate 37599337
Dysarthria Associate 37599337
Growth Disorders Associate 37599337
Intellectual Disability Associate 37599337
Microcephaly Associate 37599337