Gene Gene information from NCBI Gene database.
Entrez ID 90639
Gene name Cytochrome c oxidase assembly factor COX19
Gene symbol COX19
Synonyms (NCBI Gene)
-
Chromosome 7
Chromosome location 7p22.3
Summary COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 200
miRNA miRNA information provided by mirtarbase database.
575
miRTarBase ID miRNA Experiments Reference
MIRT516994 hsa-miR-3186-5p HITS-CLIP 23313552
MIRT516993 hsa-miR-1295b-3p HITS-CLIP 23313552
MIRT516992 hsa-miR-520g-3p HITS-CLIP 23313552
MIRT516991 hsa-miR-520h HITS-CLIP 23313552
MIRT516990 hsa-miR-186-3p HITS-CLIP 23313552
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:0005515 Function Protein binding IPI 23676665
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 23345593, 23676665
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610429 28074 ENSG00000240230
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q49B96
Protein name Cytochrome c oxidase assembly protein COX19 (hCOX19)
Protein function Required for the transduction of an SCO1-dependent redox signal from the mitochondrion to ATP7A to regulate cellular copper homeostasis (PubMed:23345593). May be required for the assembly of mitochondrial cytochrome c oxidase (By similarity). {E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06747 CHCH 30 64 CHCH domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in skeletal muscle. {ECO:0000269|PubMed:16212937}.
Sequence
MSTAMNFGTKSFQPRPPDKGSFPLDHLGECKSFKEKFMKCLHNNNFENALCRKESKEYLE
CRME
RKLMLQEPLEKLGFGDLTSGKSEAKK
Sequence length 90
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Thermogenesis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
BRONCHOPULMONARY DYSPLASIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Colorectal Neoplasms Associate 38078879
★☆☆☆☆
Found in Text Mining only