Gene Gene information from NCBI Gene database.
Entrez ID 10063
Gene name Cytochrome c oxidase copper chaperone COX17
Gene symbol COX17
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3q13.33
Summary Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochond
miRNA miRNA information provided by mirtarbase database.
211
miRTarBase ID miRNA Experiments Reference
MIRT045209 hsa-miR-186-5p CLASH 23622248
MIRT612014 hsa-miR-6782-3p HITS-CLIP 23824327
MIRT612013 hsa-miR-875-5p HITS-CLIP 23824327
MIRT612012 hsa-miR-1207-3p HITS-CLIP 23824327
MIRT612011 hsa-miR-4251 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0005507 Function Copper ion binding IEA
GO:0005507 Function Copper ion binding TAS 9050918
GO:0005515 Function Protein binding IPI 16189514, 18458339, 19182799, 25416956, 29568061, 32296183, 32814053
GO:0005737 Component Cytoplasm IDA 19393246
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604813 2264 ENSG00000138495
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14061
Protein name Cytochrome c oxidase copper chaperone
Protein function Copper metallochaperone essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase. Binds two copper ions and delivers them to the metallochaperone SCO1 which transports the copper ions
PDB 2L0Y , 2LGQ , 2RN9 , 2RNB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05051 COX17 18 63 Cytochrome C oxidase copper chaperone (COX17) Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10982038}.
Sequence
Sequence length 63
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Oxidative phosphorylation
Metabolic pathways
Thermogenesis
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
HEPATITIS, CHRONIC CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS CTD
★★☆☆☆
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
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 27711126 Inhibit
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 38078879 Associate
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 30798618
★☆☆☆☆
Found in Text Mining only
Cytochrome-c Oxidase Deficiency Cytochrome-C Oxidase Deficiency BEFREE 11027508
★☆☆☆☆
Found in Text Mining only
Heart failure Heart Failure BEFREE 30798618
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung Neoplasms CTD_human_DG 23624903
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung Lung Cancer BEFREE 14612491
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer CTD_human_DG 23624903
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 14612491
★☆☆☆☆
Found in Text Mining only