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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 3.1.3.5 58
  • EC 1.4.4.2 58
  • 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 Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 4. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. 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

Regulatory Elements for COX15 Gene

Enhancers for COX15 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H099775 1.9 FANTOM5 Ensembl ENCODE dbSUPER 5.9 -48.3 -48293 11 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 FOS SP3 SP5 EBAG9P1 DNMBP PHBP9 ENTPD7 SEC31B CWF19L1 COX15 ABCC2 GC10P099758
GH10H099730 1.1 ENCODE 0.7 +0.5 508 3 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 EBAG9P1 ENTPD7 DNMBP PHBP9 SEC31B CUTC COX15 PIR39206
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COX15 on UCSC Golden Path with GeneCards custom track

Promoters for COX15 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000032421 266 2001 HDGF MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766

Genomic Location for COX15 Gene

Chromosome:
10
Start:
99,696,129 bp from pter
End:
99,732,666 bp from pter
Size:
36,538 bases
Orientation:
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:
    Q7KZN9-COX15_HUMAN
    Recommended name:
    Cytochrome c oxidase assembly protein COX15 homolog
    Protein Accession:
    Q7KZN9
    Secondary Accessions:
    • A8K6I9
    • O60556
    • O75878
    • Q5TD00
    • Q5TD01
    • Q7Z3Q3
    • Q9NTN0

    Protein attributes for COX15 Gene

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

    Alternative splice isoforms for COX15 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COX15 Gene

Selected DME Specific Peptides for COX15 Gene

Q7KZN9:
  • SGTVAGA
  • RNVFENP

Post-translational modifications for COX15 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for COX15 Gene

Gene Families for COX15 Gene

HGNC:
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

Q7KZN9

UniProtKB/Swiss-Prot:

COX15_HUMAN :
  • Belongs to the COX15/CtaA family.
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COX15
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

COMPARTMENTS
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 IDA,IEA 9878253
GO:0005743 mitochondrial inner membrane TAS,IEA --
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-CoA
  • Formyl coenzyme A
13131-49-2
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-)
57560-10-8
Heme O
  • Heme O
137397-56-9
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COX15
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for COX15 Gene

GeneLoc Exon Structure for
COX15
ECgene alternative splicing isoforms for
COX15

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:

COX15

SOURCE GeneReport for Unigene cluster for COX15 Gene:

Hs.28326

mRNA Expression by UniProt/SwissProt for COX15 Gene:

Q7KZN9-COX15_HUMAN
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
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • liver
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with COX15: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia COX15 33 34
  • 99.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COX15 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COX15 33 34
  • 90.41 (n)
dog
(Canis familiaris)
Mammalia COX15 33 34
  • 90.41 (n)
rat
(Rattus norvegicus)
Mammalia Cox15 33
  • 87.64 (n)
mouse
(Mus musculus)
Mammalia Cox15 33 16 34
  • 86.83 (n)
oppossum
(Monodelphis domestica)
Mammalia COX15 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves COX15 33 34
  • 74.81 (n)
lizard
(Anolis carolinensis)
Reptilia COX15 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486044 33
  • 71.24 (n)
Str.137 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25389 33
zebrafish
(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)
worm
(Caenorhabditis elegans)
Secernentea T06D8.5 35 33
  • 53.11 (n)
cox-15 34
  • 49 (a)
OneToOne
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
rice
(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

ENSEMBL:
Gene Tree for COX15 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs28939711 Pathogenic, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (CEMCOX2) [MIM:615119], Leigh syndrome (LS) [MIM:256000] 99,724,057(-) TCCCT(C/T)GGGTC reference, missense
rs397514662 Pathogenic, Leigh syndrome (LS) [MIM:256000] 99,716,419(-) TCCTC(C/G/T)CTCGG reference, missense
rs200910834 Pathogenic 99,727,157(+) AAGCT(C/G)GGTGA intron-variant
rs863223944 Likely pathogenic 99,727,555(-) GACAG(A/C)GTCTG reference, missense, utr-variant-5-prime
rs1056844 Likely benign 99,710,146(-) AGTGG(A/C)GAAGG intron-variant, utr-variant-3-prime

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)

Relevant External Links for COX15 Gene

Human Gene Mutation Database (HGMD)
COX15
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX15

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

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

Disorder Aliases PubMed IDs
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
  • fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
  • fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
fatal infantile cytochrome c oxidase deficiency
  • fatal infantile cox deficiency
myasthenic syndrome, congenital, 16
  • congenital myasthenic syndrome 16
- elite association - COSMIC cancer census association via MalaCards
Search COX15 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COX15_HUMAN
  • 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.

Relevant External Links for COX15

Genetic Association Database (GAD)
COX15
Human Genome Epidemiology (HuGE) Navigator
COX15
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COX15
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 60
  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 60
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  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 45 60
  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 60

Products for COX15 Gene

Sources for COX15 Gene

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