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
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(14)
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
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mitochondrial Complex Deficiency Mitochondrial complex 4 deficiency, nuclear type 17 rs587777784, rs587777785, rs587777787 N/A
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Leukoencephalopathy With Peripheral Neuropathy non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy N/A N/A GenCC
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cytochrome c Oxidase Deficiency Associate 25175347
Leukodystrophy Metachromatic Associate 25175347
Leukoencephalopathies Associate 25175347
Mitochondrial Diseases Associate 25175347