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Aliases for COX15 Gene

Aliases for COX15 Gene

  • COX15, Cytochrome C Oxidase Assembly Homolog 2 3 5
  • COX15 (Yeast) Homolog, Cytochrome C Oxidase Assembly Protein 2
  • COX15 Homolog, Cytochrome C Oxidase Assembly Protein 3
  • Cytochrome C Oxidase Assembly Protein COX15 Homolog 3
  • Cytochrome C Oxidase Assembly Homolog 15 3
  • Cytochrome C Oxidase Subunit 15 3
  • EC 56
  • EC 56
  • CEMCOX2 3

External Ids for COX15 Gene

Previous GeneCards Identifiers for COX15 Gene

  • GC10M100364
  • GC10M100705
  • GC10M101602
  • GC10M101136
  • GC10M101461
  • GC10M095095

Summaries for COX15 Gene

Entrez Gene Summary for COX15 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 mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]

GeneCards Summary for COX15 Gene

COX15 (COX15, Cytochrome C Oxidase Assembly Homolog) is a Protein Coding gene. Diseases associated with COX15 include Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 2 and Leigh Syndrome. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity and oxidoreductase activity, acting on the CH-CH group of donors.

UniProtKB/Swiss-Prot for COX15 Gene

  • May be involved in the biosynthesis of heme A.

Gene Wiki entry for COX15 Gene

Additional gene information for COX15 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX15 Gene

Genomics for COX15 Gene

GeneHancer (GH) Regulatory Elements for COX15 Gene

Promoters and enhancers for COX15 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I099730 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.5 507 3.8 HDGF PKNOX1 SMAD1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 CUTC COX15 EBAG9P1 SEC31B ENTPD7 PIR39206
GH10I099775 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.9 -48.3 -48292 11.1 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 FOS SP3 SP5 ABCC2 EBAG9P1 SEC31B CWF19L1 COX15 GC10P099758
GH10I099707 Enhancer 1 ENCODE dbSUPER 0.3 +23.5 23482 3 PKNOX1 BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 JUNB ZNF592 PIR46681 PIR43293 ENTPD7 GOT1 LOC101927300 NKX2-3 BLOC1S2 GC10M099706 CUTC PIR46433
GH10I099711 Enhancer 0.6 ENCODE 0.3 +21.4 21367 0.2 CTCF ZNF654 TRIM22 REST RAD21 RFX5 ZNF316 ARID2 SMC3 ZNF24 PIR46681 PIR35000 PIR43293 GC10M099706 NKX2-3 CUTC COX15 ENTPD7
GH10I099692 Enhancer 0.6 ENCODE dbSUPER 0.3 +38.0 38030 3.4 HNF4A FOS YY1 ENTPD7 ABCC2 EBAG9P1 PIR56896 COX15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COX15 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COX15 gene promoter:

Genomic Locations for COX15 Gene

Genomic Locations for COX15 Gene
36,538 bases
Minus strand

Genomic View for COX15 Gene

Genes around COX15 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX15 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX15 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX15 Gene

Proteins for COX15 Gene

  • Protein details for COX15 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cytochrome c oxidase assembly protein COX15 homolog
    Protein Accession:
    Secondary Accessions:
    • A8K6I9
    • O60556
    • O75878
    • Q5TD00
    • Q5TD01
    • Q7Z3Q3
    • Q9NTN0

    Protein attributes for COX15 Gene

    410 amino acids
    Molecular mass:
    46030 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for COX15 Gene


neXtProt entry for COX15 Gene

Selected DME Specific Peptides for COX15 Gene


Post-translational modifications for COX15 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for COX15 Gene

Gene Families for COX15 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for COX15 Gene

Suggested Antigen Peptide Sequences for COX15 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the COX15/CtaA family.
  • Belongs to the COX15/CtaA family.
genes like me logo Genes that share domains with COX15: view

Function for COX15 Gene

Molecular function for COX15 Gene

GENATLAS Biochemistry:
cytochrome c oxidase,subunit 15,inner mitochondrial membrane in yeast,two isoforms most likely involved in assembly of the backbone of c oxidase
UniProtKB/Swiss-Prot Function:
May be involved in the biosynthesis of heme A.

Enzyme Numbers (IUBMB) for COX15 Gene

Phenotypes From GWAS Catalog for COX15 Gene

Gene Ontology (GO) - Molecular Function for COX15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity TAS 9878253
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors TAS --
genes like me logo Genes that share ontologies with COX15: view
genes like me logo Genes that share phenotypes with COX15: view

Human Phenotype Ontology for COX15 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COX15 Gene

MGI Knock Outs for COX15:

Animal Model Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for COX15 Gene

Localization for COX15 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX15 Gene

Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COX15 gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 3
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COX15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005739 mitochondrion IEA,IDA 9878253
GO:0005743 mitochondrial inner membrane IEA,TAS --
GO:0005746 mitochondrial respiratory chain TAS 9878253
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with COX15: view

Pathways & Interactions for COX15 Gene

genes like me logo Genes that share pathways with COX15: view

Pathways by source for COX15 Gene

1 BioSystems pathway for COX15 Gene
3 Reactome pathways for COX15 Gene

UniProtKB/Swiss-Prot Q7KZN9-COX15_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; heme A biosynthesis; heme A from heme O: step 1/1.

Gene Ontology (GO) - Biological Process for COX15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen IC 12474143
GO:0006783 heme biosynthetic process TAS --
GO:0006784 heme a biosynthetic process IEA,IGI 12474143
GO:0007585 respiratory gaseous exchange TAS 9878253
GO:0008535 respiratory chain complex IV assembly IMP 12474143
genes like me logo Genes that share ontologies with COX15: view

No data available for SIGNOR curated interactions for COX15 Gene

Drugs & Compounds for COX15 Gene

(1) Drugs for COX15 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0

(3) Additional Compounds for COX15 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Formyl coenzyme A
Heme A
  • (SP-4-2)[7-ethenyl-17-formyl-12-[(4E,8E)-1-hydroxy-5,9,13-trimethyl-4,8,12-tetradecatrienyl]-3,8,13-trimethyl-21H,23H-porphine-2,18-dipropanoato(4-)-kappaN21,kappaN22,kappaN23,kappaN24]-Ferrate(2-)
  • Heme a
  • [SP-4-2-(E,E)]-[7-ethenyl-17-formyl-12-(1-hydroxy-5,9,13-trimethyl-4,8,12-tetradecatrienyl)-3,8,13-trimethyl-21H,23H-porphine-2,18-dipropanoato(4-)-N21,N22,N23,N24]-Ferrate(2-)
Heme O
  • Heme O
genes like me logo Genes that share compounds with COX15: view

Transcripts for COX15 Gene

Unigene Clusters for COX15 Gene

Cytochrome c oxidase assembly homolog 15 (yeast):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COX15 Gene

No ASD Table

Relevant External Links for COX15 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COX15 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COX15 Gene

Protein differential expression in normal tissues from HIPED for COX15 Gene

This gene is overexpressed in Nasal epithelium (53.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COX15 Gene

Protein tissue co-expression partners for COX15 Gene

NURSA nuclear receptor signaling pathways regulating expression of COX15 Gene:


SOURCE GeneReport for Unigene cluster for COX15 Gene:


mRNA Expression by UniProt/SwissProt for COX15 Gene:

Tissue specificity: Predominantly found in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain.

Evidence on tissue expression from TISSUES for COX15 Gene

  • Muscle(4.4)
  • Skin(4.2)
  • Nervous system(3.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COX15 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
  • heart
  • heart valve
  • lung
  • liver
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with COX15: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for COX15 Gene

Orthologs for COX15 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COX15 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia COX15 33 34
  • 99.59 (n)
(Ornithorhynchus anatinus)
Mammalia COX15 34
  • 91 (a)
(Bos Taurus)
Mammalia COX15 33 34
  • 90.41 (n)
(Canis familiaris)
Mammalia COX15 33 34
  • 90.41 (n)
(Rattus norvegicus)
Mammalia Cox15 33
  • 87.64 (n)
(Mus musculus)
Mammalia Cox15 33 16 34
  • 86.83 (n)
(Monodelphis domestica)
Mammalia COX15 34
  • 84 (a)
(Gallus gallus)
Aves COX15 33 34
  • 74.81 (n)
(Anolis carolinensis)
Reptilia COX15 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486044 33
  • 71.24 (n)
Str.137 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25389 33
(Danio rerio)
Actinopterygii cox15 33 34
  • 68.15 (n)
zgc56240 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12248 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001744 33
  • 59.45 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3803 35 33 34
  • 57.29 (n)
(Caenorhabditis elegans)
Secernentea T06D8.5 35 33
  • 53.11 (n)
cox-15 34
  • 49 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR012C 33
  • 50.68 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E10385g 33
  • 50.13 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX15 33 34 36
  • 48.83 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons COX15 33
  • 50.78 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11664 33
(Oryza sativa)
Liliopsida Os08g0496000 33
  • 50.35 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04817 33
  • 52.37 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes etp1 33
  • 47.81 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13923 33
Species where no ortholog for COX15 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COX15 Gene

Gene Tree for COX15 (if available)
Gene Tree for COX15 (if available)

Paralogs for COX15 Gene

No data available for Paralogs for COX15 Gene

Variants for COX15 Gene

Sequence variations from dbSNP and Humsavar for COX15 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000984 uncertain-significance, Cytochrome-c oxidase deficiency 99,710,328(-) C/A genic_downstream_transcript_variant, intron_variant
rs1017378423 uncertain-significance, Cytochrome-c oxidase deficiency 99,711,886(-) T/C 3_prime_UTR_variant, intron_variant
rs1021066533 uncertain-significance, Cytochrome-c oxidase deficiency 99,710,917(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1023986370 uncertain-significance, Cytochrome-c oxidase deficiency 99,712,993(-) G/C 3_prime_UTR_variant, intron_variant
rs1048652829 uncertain-significance, Cytochrome-c oxidase deficiency 99,712,527(-) G/A 3_prime_UTR_variant, intron_variant

Variation tolerance for COX15 Gene

Residual Variation Intolerance Score: 62.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.42; 42.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX15 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for COX15 Gene

Disorders for COX15 Gene

MalaCards: The human disease database

(8) MalaCards diseases for COX15 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
  • cemcox2
leigh syndrome
  • ls
fatal infantile cytochrome c oxidase deficiency
  • fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
- elite association - COSMIC cancer census association via MalaCards
Search COX15 in MalaCards View complete list of genes associated with diseases


  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (CEMCOX2) [MIM:615119]: An infantile disorder, with a rapidly progressive fatal course, characterized by cytochrome c oxidase deficiency. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent lactic acidosis, respiratory distress, hypotonia and seizures. Postmortem cardiac muscle studies show marked complex IV deficiency. Complex IV activity is only slightly decreased in the skeletal muscle. {ECO:0000269 PubMed:12474143, ECO:0000269 PubMed:21412973}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:15235026, ECO:0000269 PubMed:15863660}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COX15

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with COX15: view

No data available for Genatlas for COX15 Gene

Publications for COX15 Gene

  1. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. (PMID: 12474143) Antonicka H … Shoubridge EA (American journal of human genetics 2003) 3 4 22 58
  2. Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. (PMID: 9878253) Petruzzella V … Zeviani M (Genomics 1998) 2 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Analysis of the genes coding for subunit 10 and 15 of cytochrome c oxidase in Alzheimer's disease. (PMID: 19826901) Vitali M … Finazzi D (Journal of neural transmission (Vienna, Austria : 1996) 2009) 3 44 58
  5. Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. (PMID: 15863660) Bugiani M … Zeviani M (Journal of medical genetics 2005) 4 22 58

Products for COX15 Gene

Sources for COX15 Gene

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