COX16 (cytochrome c oxidase assembly factor COX16)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 51241 |
| Gene name | Cytochrome c oxidase assembly factor COX16 |
| Gene symbol | COX16 |
| Synonyms (NCBI Gene) |
C14orf112HSPC203MC4DN22hCOX16
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| Chromosome | 14 |
| Chromosome location | 14q24.2 |
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miRNA
miRNA information provided by mirtarbase database.
192
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in skeletal muscle, heart and liver. {ECO:0000269|PubMed:29355485}. | ||||||||||
| Sequence |
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| Sequence length | 106 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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