COA6 (cytochrome c oxidase assembly factor 6)

Gene

• Entrez ID: 388753
• Gene name: Cytochrome c oxidase assembly factor 6
• Gene symbol: COA6
• Synonyms (NCBI Gene): C1orf31, CEMCOX4, MC4DN13
• Chromosome: 1
• Chromosome location: 1q42.2
• Summary: This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be asso

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031801	hsa-miR-16-5p	Proteomics	18668040

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005507	Function	Copper ion binding	IDA	26160915
GO:0005515	Function	Protein binding	IPI	25959673, 26160915, 28330871, 29154948, 29381136, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005758	Component	Mitochondrial intermembrane space	IDA	25339201
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0008535	Process	Respiratory chain complex IV assembly	IBA
GO:0008535	Process	Respiratory chain complex IV assembly	IDA	25959673, 26160915
GO:0008535	Process	Respiratory chain complex IV assembly	IEA
GO:0008535	Process	Respiratory chain complex IV assembly	IMP	24549041
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IMP	24549041, 25959673, 26160915

Other IDs

• MIM: 614772
• HGNC: 18025
• e!Ensembl: ENSG00000168275

Protein

• UniProt ID: Q5JTJ3
• Protein name: Cytochrome c oxidase assembly factor 6 homolog
• Protein function: Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Mitochondrial respiratory chain complex IV or cytochrome c oxidase is the component of th
• PDB: 6NL3, 6PCE, 6PCF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02297	COX6B	47 → 113	Cytochrome oxidase c subunit VIb	Domain

• Sequence:

  MGPGGPLLSPSRGFLLCKTGWHSNRLLGDCGPHTPVSTALSFIAVGMAAPSMKERQVCWG
  ARDEYWKCLDENLEDASQCKKLRSSFESSCPQQWIKYFDKRRDYLKFKEKFEAGQFEPSE
  TTAKS

• Sequence length: 125

Pathways

KEGG:

Thermogenesis

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	Pathogenic	rs1558123786, rs875989827	RCV000133543 RCV000186606	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COA6-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37215201	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	40596639	Associate	★☆☆☆☆ Found in Text Mining only
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency	Cardioencephalomyopathy	ORPHANET_DG	24549041, 25339201		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency	Cardioencephalomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency	Cardioencephalomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4	Cardioencephalomyopathy	GENOMICS_ENGLAND_DG	22277967, 25339201		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4	Cardioencephalomyopathy	UNIPROT_DG	24549041, 25339201, 25959673		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4	Cardioencephalomyopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathies	Cardiomyopathy	BEFREE	25959673, 26160915		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	28330871	Associate	★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	31515291	Associate	★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	25339201, 25959673, 26160915		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	28330871		★☆☆☆☆ Found in Text Mining only
Fatal infantile cytochrome C oxidase deficiency	Fatal Cytochrome C Oxidase Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	25339201		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	25339201		★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26669719, 31515291	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	39754905	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	40596639	Stimulate	★☆☆☆☆ Found in Text Mining only
Progressive pseudorheumatoid dysplasia	Progressive Pseudorheumatoid Dysplasia	BEFREE	28315989		★☆☆☆☆ Found in Text Mining only