Gene Gene information from NCBI Gene database.
Entrez ID 4697
Gene name Cytochrome c oxidase associated subunit FA4
Gene symbol COXFA4
Synonyms (NCBI Gene)
CI-9kCI-MLRQMC4DN21MISTR1MLRQMRCAF1NDUFA4
Chromosome 7
Chromosome location 7p21.3
miRNA miRNA information provided by mirtarbase database.
410
miRTarBase ID miRNA Experiments Reference
MIRT021524 hsa-miR-145-5p Reporter assay;Microarray 21351259
MIRT025792 hsa-miR-7-5p Microarray 19073608
MIRT031645 hsa-miR-16-5p Sequencing 20371350
MIRT045020 hsa-miR-186-5p CLASH 23622248
MIRT037742 hsa-miR-147b CLASH 23622248
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:0005515 Function Protein binding IPI 19822128, 31536960, 32814053
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 16729965
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
603833 7687 ENSG00000189043
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00483
Protein name Cytochrome c oxidase subunit NDUFA4 (Complex I-MLRQ) (CI-MLRQ) (NADH-ubiquinone oxidoreductase MLRQ subunit)
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
PF06522 B12D 11 78 NADH-ubiquinone reductase complex 1 MLRQ subunit Family
Sequence
Sequence length 81
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Retrograde endocannabinoid signaling
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.).
4
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)
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 21 Pathogenic; Likely pathogenic rs2534043245, rs552689119, rs1781236368 RCV003152864
RCV004595202
RCV001255196
★★★★☆
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
LEIGH SYNDROME ClinGen
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH LEUKODYSTROPHY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 Disgenet
★★☆☆☆
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 28578378, 30691479 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 23253088 Associate
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 11720477 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar Diseases Cerebellar Diseases BEFREE 22617776
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30348529
★☆☆☆☆
Found in Text Mining only
Cytochrome c Oxidase Deficiency Cytochrome c oxidase deficiency Pubtator 23746447 Associate
★☆☆☆☆
Found in Text Mining only
Cytochrome-c Oxidase Deficiency Cytochrome-C Oxidase Deficiency GENOMICS_ENGLAND_DG 29636225
★☆☆☆☆
Found in Text Mining only
Dandy-Walker Syndrome Dandy-Walker Syndrome BEFREE 22617776
★☆☆☆☆
Found in Text Mining only