COA8 (cytochrome c oxidase assembly factor 8)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84334
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome c oxidase assembly factor 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COA8
Synonyms (NCBI Gene) Gene synonyms aliases
APOP, APOP1, APOPT1, C14orf153, MC4DN17
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MC4DN17
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.33
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
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) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0000302 Process Response to reactive oxygen species IDA 30552096
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA 25175347
GO:0033617 Process Mitochondrial cytochrome c oxidase assembly IDA 30552096
GO:0033617 Process Mitochondrial cytochrome c oxidase assembly IMP 25175347
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616003 20492 ENSG00000256053
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Sequence length 206
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (11)
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Developmental regression Developmental regression rs1224421127
Fanconi syndrome Adult Fanconi syndrome rs398124646
Show/Hide Unknown Diseases (9)
Unknown
Disease term Disease name Evidence References Source
Cytochrome-c oxidase deficiency Cytochrome-c Oxidase Deficiency 25175347, 29577824, 30552096 ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Spastic tetraparesis Spastic tetraparesis ClinVar
Mitochondrial Complex Deficiency mitochondrial complex 4 deficiency, nuclear type 17 GenCC
Show/Hide Text Mining Associations (4)
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