COX5A (cytochrome c oxidase subunit 5A)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9377
Gene name Cytochrome c oxidase subunit 5A
Gene symbol COX5A
Synonyms (NCBI Gene)
COXCOX-VAMC4DN20VA
Chromosome 15
Chromosome location 15q24.2
Summary Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradien
miRNA miRNA information provided by mirtarbase database.
80
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (80)
miRTarBase ID miRNA Experiments Reference
MIRT050490 hsa-miR-20a-5p CLASH 23622248
MIRT048508 hsa-miR-100-5p CLASH 23622248
MIRT043091 hsa-miR-324-5p CLASH 23622248
MIRT042244 hsa-miR-484 CLASH 23622248
MIRT727966 hsa-miR-26a-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0004129 Function Cytochrome-c oxidase activity TAS 2853101
GO:0005515 Function Protein binding IPI 25416956, 26759378, 31536960, 32296183, 32814053
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 19393246
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603773 2267 ENSG00000178741
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20674
Protein name Cytochrome c oxidase subunit 5A, mitochondrial (Cytochrome c oxidase polypeptide Va)
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
PF02284 COX5A 45 → 147 Cytochrome c oxidase subunit Va Domain
Sequence
Sequence length 150
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  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 		  TP53 Regulates Metabolic Genes
Respiratory electron transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (1)
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 20 Pathogenic rs142618460, rs2065346374 RCV003890775
RCV001255880
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (7)
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
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COX5A-related disorder Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CYTOCHROME-C OXIDASE DEFICIENCY DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (133)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27866983
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 15807932, 19307727
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 15807932, 19205707
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 35432724 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arteriosclerosis Arteriosclerosis BEFREE 28122051
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 19390242, 30210691
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 15316498, 19390242, 30961940
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 28122051
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 29161772
★★★★★
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 22471974
★★★★★
★☆☆☆☆
Found in Text Mining only