Gene Gene information from NCBI Gene database.
Entrez ID 1347
Gene name Cytochrome c oxidase subunit 7A2
Gene symbol COX7A2
Synonyms (NCBI Gene)
COX7ALCOX7AL1COXVIIALCOXVIIa-LVIIAL
Chromosome 6
Chromosome location 6q14.1
Summary Cytochrome c oxidase, 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 three catalytic subunits encoded by mitochondri
miRNA miRNA information provided by mirtarbase database.
47
miRTarBase ID miRNA Experiments Reference
MIRT043577 hsa-miR-148b-3p CLASH 23622248
MIRT040509 hsa-miR-548b-3p CLASH 23622248
MIRT905513 hsa-miR-3136-5p CLIP-seq
MIRT905514 hsa-miR-3160-3p CLIP-seq
MIRT905515 hsa-miR-34a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0004129 Function Cytochrome-c oxidase activity IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
123996 2288 ENSG00000112695
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P14406
Protein name Cytochrome c oxidase subunit 7A2, mitochondrial (Cytochrome c oxidase subunit VIIa-liver/heart) (Cytochrome c oxidase subunit VIIa-L) (Cytochrome c oxidase subunit VIIaL)
Protein function Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiqu
PDB 5Z62
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02238 COX7a 26 76 Cytochrome c oxidase subunit VII Family
Sequence
Sequence length 83
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Oxidative phosphorylation
Metabolic pathways
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
ASTHMA 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
Alzheimer Disease Alzheimer disease Pubtator 36195955 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Basal cell carcinoma Pubtator 34278484 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 29079956
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 29079956
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 29079956
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 29079956
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial disease Pubtator 34278484 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 29079956
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 37482618 Associate
★☆☆☆☆
Found in Text Mining only