Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1355
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome c oxidase assembly factor COX15
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COX15
Synonyms (NCBI Gene) Gene synonyms aliases
CEMCOX2, HAS, MC4DN6
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochond
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28939711 G>A Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs149718203 G>C Uncertain-significance, likely-pathogenic, pathogenic Coding sequence variant, stop gained, intron variant
rs200910834 G>C Conflicting-interpretations-of-pathogenicity, pathogenic Intron variant
rs397514662 A>C,G Likely-pathogenic, pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs748468371 CT>- Pathogenic Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT659390 hsa-miR-4267 HITS-CLIP 23824327
MIRT659391 hsa-miR-153-3p HITS-CLIP 23824327
MIRT659389 hsa-miR-448 HITS-CLIP 23824327
MIRT478958 hsa-miR-4676-5p PAR-CLIP 23592263
MIRT478957 hsa-miR-575 PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29128334
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 9878253
GO:0005739 Component Mitochondrion IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603646 2263 ENSG00000014919
Protein
UniProt ID Q7KZN9
Protein name Heme A synthase COX15 (HAS) (EC 1.17.99.9) (Cytochrome c oxidase assembly protein COX15 homolog)
Protein function Catalyzes the second reaction in the biosynthesis of heme A, a prosthetic group of mitochondrial cytochrome c oxidase (CcO) (PubMed:12474143). Heme A is synthesized from heme B by two sequential enzymatic reactions catalyzed by heme O synthase (
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02628 COX15-CtaA 70 399 Cytochrome oxidase assembly protein Family
Tissue specificity TISSUE SPECIFICITY: Predominantly found in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain. {ECO:0000269|PubMed:9878253}.
Sequence
Sequence length 410
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Oxidative phosphorylation
Porphyrin metabolism
Metabolic pathways
Biosynthesis of cofactors
Thermogenesis
  Heme biosynthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardioencephalomyopathy cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 rs28939711, rs149718203 N/A
leigh syndrome Leigh syndrome rs149718203 N/A
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
cardiomyopathy Cardiomyopathy N/A N/A ClinVar
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arrhythmogenic Right Ventricular Dysplasia Associate 28767663
Basal Cell Nevus Syndrome Associate 29081410
Cardiomyopathies Associate 15863660
Colorectal Neoplasms Associate 35438744
Cytochrome c Oxidase Deficiency Associate 15863660
Leigh Disease Associate 15863660
Osteoporosis Associate 34743649
Pulmonary Disease Chronic Obstructive Associate 17483440