Gene Gene information from NCBI Gene database.
Entrez ID 285521
Gene name Cytochrome c oxidase assembly factor COX18
Gene symbol COX18
Synonyms (NCBI Gene)
COX18HSOXA1L2
Chromosome 4
Chromosome location 4q13.3
Summary This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative spli
miRNA miRNA information provided by mirtarbase database.
591
miRTarBase ID miRNA Experiments Reference
MIRT049141 hsa-miR-92a-3p CLASH 23622248
MIRT695472 hsa-miR-4761-5p HITS-CLIP 23313552
MIRT695471 hsa-miR-3614-5p HITS-CLIP 23313552
MIRT695470 hsa-miR-6500-3p HITS-CLIP 23313552
MIRT695469 hsa-miR-1288-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28330871
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IBA
GO:0005743 Component Mitochondrial inner membrane IDA 16212937
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610428 26801 ENSG00000163626
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N8Q8
Protein name Cytochrome c oxidase assembly protein COX18, mitochondrial (COX18Hs) (Cytochrome c oxidase assembly protein 18)
Protein function Mitochondrial membrane insertase required for the translocation of the C-terminus of cytochrome c oxidase subunit II (MT-CO2/COX2) across the mitochondrial inner membrane. Plays a role in MT-CO2/COX2 maturation following the COX20-mediated stabi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02096 60KD_IMP 82 298 60Kd inner membrane protein Family
Sequence
Sequence length 333
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Thermogenesis   TP53 Regulates Metabolic Genes
Respiratory electron transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Mitochondrial complex IV deficiency, nuclear type 1 Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
SENSORINEURAL HEARING LOSS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sensorineural hearing loss disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Cardio Renal Syndrome Associate 37468577
★☆☆☆☆
Found in Text Mining only
Cytochrome c Oxidase Deficiency Associate 28330871, 37468577
★☆☆☆☆
Found in Text Mining only
Hearing Loss Associate 33713422
★☆☆☆☆
Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies Associate 37468577
★☆☆☆☆
Found in Text Mining only
Leigh syndrome French Canadian type Associate 37468577
★☆☆☆☆
Found in Text Mining only
Mitochondrial Myopathies Associate 37468577
★☆☆☆☆
Found in Text Mining only
Pulmonary Disease Chronic Obstructive Associate 37466093
★☆☆☆☆
Found in Text Mining only