Gene Gene information from NCBI Gene database.
Entrez ID 51241
Gene name Cytochrome c oxidase assembly factor COX16
Gene symbol COX16
Synonyms (NCBI Gene)
C14orf112HSPC203MC4DN22hCOX16
Chromosome 14
Chromosome location 14q24.2
miRNA miRNA information provided by mirtarbase database.
192
miRTarBase ID miRNA Experiments Reference
MIRT051611 hsa-let-7e-5p CLASH 23622248
MIRT905028 hsa-miR-1204 CLIP-seq
MIRT905029 hsa-miR-1228 CLIP-seq
MIRT905030 hsa-miR-1323 CLIP-seq
MIRT905031 hsa-miR-1827 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 29355485, 29381136, 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618064 20213 ENSG00000133983
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P0S2
Protein name Cytochrome c oxidase assembly protein COX16 homolog, mitochondrial (hCOX16)
Protein function Required for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase (PubMed:29355485, PubMed:29381136, PubMed:33169484). Promotes the insertion of copper into the active site of cytochrome c oxid
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14138 COX16 16 88 Cytochrome c oxidase assembly protein COX16 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in skeletal muscle, heart and liver. {ECO:0000269|PubMed:29355485}.
Sequence
Sequence length 106
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Mitochondrial complex IV deficiency, nuclear type 22 Pathogenic rs781059799 RCV001449913
★★★★☆
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
OBSESSIVE-COMPULSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 33169484 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 33169484 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 33169484 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Hypertrophic Hypertrophic cardiomyopathy Pubtator 33169484 Associate
★☆☆☆☆
Found in Text Mining only
Cytochrome c Oxidase Deficiency Cytochrome c oxidase deficiency Pubtator 33169484 Associate
★☆☆☆☆
Found in Text Mining only
Cytochrome-c Oxidase Deficiency Cytochrome-C Oxidase Deficiency BEFREE 15596615
★☆☆☆☆
Found in Text Mining only
Liver Failure Liver failure Pubtator 33169484 Associate
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial disease Pubtator 33169484 Associate
★☆☆☆☆
Found in Text Mining only