Gene Gene information from NCBI Gene database.
Entrez ID 1355
Gene name Cytochrome c oxidase assembly factor COX15
Gene symbol COX15
Synonyms (NCBI Gene)
CEMCOX2HASMC4DN6
Chromosome 10
Chromosome location 10q24.2
Summary 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.
6
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.
695
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603646 2263 ENSG00000014919
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Likely pathogenic; Pathogenic rs778412019, rs2492679787, rs201002908, rs2036859860, rs28939711, rs886046611, rs1409285901, rs149718203 RCV001331215
RCV002472025
RCV005025946
RCV005027974
RCV000006551
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COX15-related disorder Likely pathogenic; Pathogenic rs149718203 RCV004757251
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leigh syndrome Likely pathogenic; Pathogenic rs778412019, rs2492746592, rs149718203 RCV002307728
RCV002282872
RCV000586150
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1 Likely pathogenic; Pathogenic rs777659902 RCV005927044
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic right ventricular cardiomyopathy Pubtator 28767663 Associate
★☆☆☆☆
Found in Text Mining only
Basal Cell Nevus Syndrome Basal cell nevus syndrome Pubtator 29081410 Associate
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Cardioencephalomyopathy ORPHANET_DG 21412973, 2175025
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Cardioencephalomyopathy CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 Cardioencephalomyopathy UNIPROT_DG 12474143, 21412973
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 Cardioencephalomyopathy GENOMICS_ENGLAND_DG 15235026, 27604308
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 Cardioencephalomyopathy CLINVAR_DG
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiomyopathies Cardiomyopathy BEFREE 15863660
★★☆☆☆
Found in Text Mining + Unknown/Other Associations