Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
493753
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome c oxidase assembly factor 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COA5
Synonyms (NCBI Gene) Gene synonyms aliases
6330578E17Rik, C2orf64, CEMCOX3, MC4DN9, Pet191
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associ
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs387907099 C>G,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT529960 hsa-miR-6871-5p PAR-CLIP 22012620
MIRT529959 hsa-miR-6878-5p PAR-CLIP 22012620
MIRT529958 hsa-miR-6731-5p PAR-CLIP 22012620
MIRT529957 hsa-miR-8085 PAR-CLIP 22012620
MIRT529956 hsa-miR-548aw PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002521 Process Leukocyte differentiation IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005743 Component Mitochondrial inner membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613920 33848 ENSG00000183513
Protein
UniProt ID Q86WW8
Protein name Cytochrome c oxidase assembly factor 5
Protein function Involved in an early step of the mitochondrial complex IV assembly process.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10203 Pet191_N 11 71 Cytochrome c oxidase assembly protein PET191 Family
Sequence
Sequence length 74
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Thermogenesis  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardioencephalomyopathy cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 rs387907099 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathies Associate 21457908
Cardiomyopathy Hypertrophic Associate 21457908