Gene Gene information from NCBI Gene database.
Entrez ID 84274
Gene name Coenzyme Q5, methyltransferase
Gene symbol COQ5
Synonyms (NCBI Gene)
COQ10D9
Chromosome 12
Chromosome location 12q24.31
miRNA miRNA information provided by mirtarbase database.
97
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616359 28722 ENSG00000110871
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
17
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs74578594 RCV005904903
Cervical cancer Benign rs74578594 RCV005904905
Coenzyme q10 deficiency, primary, 9 Conflicting classifications of pathogenicity rs377668174 RCV003333133
COQ5-related disorder Likely benign; Benign rs138814195, rs503335, rs1177906759, rs140043357, rs1351013751, rs74578594 RCV003909809
RCV003982181
RCV003962070
RCV003950574
RCV004758094
RCV003913231
Associations from Text MiningDisease 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