COA8 (cytochrome c oxidase assembly factor 8)

Gene

• Entrez ID: 84334
• Gene name: Cytochrome c oxidase assembly factor 8
• Gene symbol: COA8
• Synonyms (NCBI Gene): APOP, APOP1, APOPT1, C14orf153, MC4DN17
• Chromosome: 14
• Chromosome location: 14q32.33
• Summary: This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alter

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777784	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs587777785	G>A	Pathogenic	Splice acceptor variant
rs587777786	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs587777787	GAA>-	Pathogenic	Coding sequence variant, intron variant, inframe deletion, non coding transcript variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000302	Process	Response to reactive oxygen species	IDA	30552096
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	25175347
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IDA	30552096
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IMP	25175347
GO:0050821	Process	Protein stabilization	IDA	30552096
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IEA
GO:0099617	Component	Matrix side of mitochondrial inner membrane	IDA	30552096

Other IDs

• MIM: 616003
• HGNC: 20492
• e!Ensembl: ENSG00000256053

Protein

• UniProt ID: Q96IL0
• Protein name: Cytochrome c oxidase assembly factor 8 (COA8) (Apoptogenic protein 1, mitochondrial) (APOP-1)
• Protein function: Required for cytochrome c complex (COX) IV assembly and function Protects COX assembly from oxidation-induced degradation, COX being the terminal component of the mitochondrial respiratory chain. {ECO:0000269|PubMed:25175347, ECO:0000269|PubMed:
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10231	DUF2315	66 → 194	Apoptogenic protein 1	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fibroblasts. {ECO:0000269|PubMed:25175347}.
• Sequence:

  MLPCAAGARGRGAMVVLRAGKKTFLPPLCRAFACRGCQLAPERGAERRDTAPSGVSRFCP
  PRKSCHDWIGPPDKYSNLRPVHFYIPENESPLEQKLRKLRQETQEWNQQFWANQNLTFSK
  EKEEFIHSRLKTKGLGLRTESGQKATLNAEEMADFYKEFLSKNFQKHMYYNRDWYKRNFA
  ITFFMGKVALERIWNKLKQKQKKRSN

• Sequence length: 206

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Mitochondrial complex IV deficiency, nuclear type 1	Likely pathogenic	rs759966247	RCV000791189
Mitochondrial complex IV deficiency, nuclear type 17	Likely pathogenic; Pathogenic	rs753824369, rs587777784, rs587777785, rs587777787, rs2507478587, rs778874587, rs2507477807, rs769966495	RCV001808927 RCV000144485 RCV000144486 RCV000144488 RCV003111524 RCV003228733 RCV003332426 RCV003493227

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
COA8-related disorder	Benign; Likely benign	rs11337243, rs751821020, rs143925033, rs764835134, rs550537910, rs190920873, rs2274268, rs71417867, rs1268847789, rs2076095937, rs35468666	RCV003931269 RCV003960954 RCV003960955 RCV003912082 RCV003916940 RCV003933915 RCV003931519 RCV003941511 RCV003912607 RCV003959894 RCV003972592 RCV003975597 RCV003902979 RCV003950809
Gastric cancer	Likely benign	rs11337243	RCV005869864
Ovarian serous cystadenocarcinoma	Uncertain significance	rs760697714	RCV005929993
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs35960830	RCV005895128

Associations from Text Mining
Disease Name	Relationship Type	References
Cytochrome c Oxidase Deficiency	Associate	25175347
Leukodystrophy Metachromatic	Associate	25175347
Leukoencephalopathies	Associate	25175347
Mitochondrial Diseases	Associate	25175347