Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	28958
Gene name	Cytochrome c oxidase assembly factor 3
Gene symbol	COA3
Synonyms (NCBI Gene)	CCDC56COX25HSPC009MC4DN14MITRAC12hCOA3
Chromosome	17
Chromosome location	17q21.2
Summary	This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. [provided by RefSeq, Nov 2012

13 Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23260140, 26321642
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IDA	23260140
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IBA
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IEA
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IMP	23260140
GO:0070131	Process	Positive regulation of mitochondrial translation	IMP	23260140

MIM	HGNC	e!Ensembl
614775	24990	ENSG00000183978

Q9Y2R0

Protein name

Cytochrome c oxidase assembly factor 3 homolog, mitochondrial (Coiled-coil domain-containing protein 56) (Mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 12 kDa)

Protein function

Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09813	Coiled-coil_56	1 → 106	Coiled-coil domain-containing protein 56	Coiled-coil

Sequence

MASSGAGDPLDSKRGEAPFAQRIDPTREKLTPEQLHSMRQAELAQWQKVLPRRRTRNIVT
GLGIGALVLAIYGYTFYSISQERFLDELEDEAKAARARALARASGS

Sequence length

106

Interactions

View interactions

KEGG Pathway
Thermogenesis

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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. Show/Hide Unknown Diseases (7)
CARCINOMA, BASAL CELL	—	CTD	36428691	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COA3-related disorder	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYTOCHROME-C OXIDASE DEFICIENCY DISEASE	—	GWAS catalog	25604084	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex IV deficiency, nuclear type 1	no classifications from unflagged records; Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mitochondrial complex IV deficiency, nuclear type 14	Uncertain significance	ClinVar ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO	25604084	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	22610097, 23260140, 23362268, 25604084	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet, ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (9)
Breast Neoplasms	Breast neoplasm	Pubtator	39742384	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30551403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	25604084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	ORPHANET_DG	25604084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	25604084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated cytochrome C oxidase deficiency	Isolated Cytochrome C Oxidase Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	25604084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type IIb	Pseudohypoaldosteronism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
COX20	3	["Cytochrome c oxidase deficiency","Mitochondrial complex deficiency","Mitochondrial disease"]	1	["Thermogenesis"]	7	["GWAS catalog (Cytochrome c oxidase deficiency)","ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
COX6A2	3	["Cytochrome c oxidase deficiency","Mitochondrial complex deficiency","Mitochondrial disease"]	1	["Thermogenesis"]	7	["GWAS catalog (Cytochrome c oxidase deficiency)","ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","GWAS catalog (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
COX6B1	3	["Cytochrome c oxidase deficiency","Mitochondrial complex deficiency","Mitochondrial disease"]	1	["Thermogenesis"]	7	["GWAS catalog (Cytochrome c oxidase deficiency)","ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","GWAS catalog (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
COX14	3	["Cytochrome c oxidase deficiency","Mitochondrial complex deficiency","Mitochondrial disease"]	1	["Thermogenesis"]	6	["GWAS catalog (Cytochrome c oxidase deficiency)","ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
COX5A	3	["Cytochrome c oxidase deficiency","Mitochondrial complex deficiency","Mitochondrial disease"]	1	["Thermogenesis"]	5	["GWAS catalog (Cytochrome c oxidase deficiency)","ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)"]

COA3 (cytochrome c oxidase assembly factor 3)

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