Free for academic non-profit institutions. Other users need a Commercial license

Aliases for COA5 Gene

Aliases for COA5 Gene

  • Cytochrome C Oxidase Assembly Factor 5 2 3 5
  • C2orf64 3 4
  • Chromosome 2 Open Reading Frame 64 2
  • Protein C2orf64 3
  • 6330578E17Rik 3
  • CEMCOX3 3
  • Pet191 3

External Ids for COA5 Gene

Previous HGNC Symbols for COA5 Gene

  • C2orf64

Previous GeneCards Identifiers for COA5 Gene

  • GC02M099216

Summaries for COA5 Gene

Entrez Gene Summary for COA5 Gene

  • This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]

GeneCards Summary for COA5 Gene

COA5 (Cytochrome C Oxidase Assembly Factor 5) is a Protein Coding gene. Diseases associated with COA5 include cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 and fatal infantile cytochrome c oxidase deficiency.

UniProtKB/Swiss-Prot for COA5 Gene

  • Involved in an early step of the mitochondrial complex IV assembly process.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COA5 Gene

Genomics for COA5 Gene

Regulatory Elements for COA5 Gene

Promoters for COA5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COA5 on UCSC Golden Path with GeneCards custom track

Genomic Location for COA5 Gene

Chromosome:
2
Start:
98,599,310 bp from pter
End:
98,608,518 bp from pter
Size:
9,209 bases
Orientation:
Minus strand

Genomic View for COA5 Gene

Genes around COA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COA5 Gene

Proteins for COA5 Gene

  • Protein details for COA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WW8-COA5_HUMAN
    Recommended name:
    Cytochrome c oxidase assembly factor 5
    Protein Accession:
    Q86WW8

    Protein attributes for COA5 Gene

    Size:
    74 amino acids
    Molecular mass:
    8376 Da
    Quaternary structure:
    No Data Available

neXtProt entry for COA5 Gene

Proteomics data for COA5 Gene at MOPED

Post-translational modifications for COA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COA5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COA5 Gene

Domains & Families for COA5 Gene

Protein Domains for COA5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COA5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86WW8

UniProtKB/Swiss-Prot:

COA5_HUMAN :
  • Belongs to the PET191 family.
Family:
  • Belongs to the PET191 family.
genes like me logo Genes that share domains with COA5: view

Function for COA5 Gene

Molecular function for COA5 Gene

UniProtKB/Swiss-Prot Function:
Involved in an early step of the mitochondrial complex IV assembly process.
genes like me logo Genes that share phenotypes with COA5: view

Human Phenotype Ontology for COA5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COA5 Gene

MGI Knock Outs for COA5:
  • Coa5 tm1b(KOMP)Wtsi

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for COA5 Gene

Localization for COA5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COA5 Gene COMPARTMENTS Subcellular localization image for COA5 gene
Compartment Confidence
mitochondrion 5
extracellular 2
nucleus 2
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for COA5 Gene

Pathways & Interactions for COA5 Gene

SuperPathways for COA5 Gene

No Data Available

Interacting Proteins for COA5 Gene

Gene Ontology (GO) - Biological Process for COA5 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for COA5 Gene

Drugs & Compounds for COA5 Gene

No Compound Related Data Available

Transcripts for COA5 Gene

mRNA/cDNA for COA5 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COA5 Gene

Cytochrome c oxidase assembly factor 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COA5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
SP1: - - - -
SP2: - -
SP3: - - -
SP4: -
SP5: - -

Relevant External Links for COA5 Gene

GeneLoc Exon Structure for
COA5
ECgene alternative splicing isoforms for
COA5

Expression for COA5 Gene

mRNA expression in normal human tissues for COA5 Gene

Protein differential expression in normal tissues from HIPED for COA5 Gene

This gene is overexpressed in Plasma (37.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for COA5 Gene



SOURCE GeneReport for Unigene cluster for COA5 Gene Hs.596537

genes like me logo Genes that share expression patterns with COA5: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for COA5 Gene

Orthologs for COA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for COA5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia COA5 35
  • 87.84 (n)
  • 82.43 (a)
COA5 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COA5 35
  • 88.74 (n)
  • 86.49 (a)
COA5 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Coa5 35
  • 85.59 (n)
  • 82.43 (a)
Coa5 16
Coa5 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COA5 35
  • 100 (n)
  • 100 (a)
COA5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Coa5 35
  • 86.49 (n)
  • 82.43 (a)
oppossum
(Monodelphis domestica)
Mammalia COA5 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves COA5 35
  • 71.62 (n)
  • 70.27 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia coa5 35
  • 72.97 (n)
  • 72.97 (a)
zebrafish
(Danio rerio)
Actinopterygii coa5 35
  • 67.12 (n)
  • 72.6 (a)
coa5 36
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13018 36
  • 52 (a)
OneToOne
Species with no ortholog for COA5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COA5 Gene

ENSEMBL:
Gene Tree for COA5 (if available)
TreeFam:
Gene Tree for COA5 (if available)

Paralogs for COA5 Gene

Pseudogenes.org Pseudogenes for COA5 Gene

genes like me logo Genes that share paralogs with COA5: view

No data available for Paralogs for COA5 Gene

Variants for COA5 Gene

Sequence variations from dbSNP and Humsavar for COA5 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_065499 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (CEMCOX3)
rs1400067 -- 98,606,093(+) TCAGG(G/T)GGGTT intron-variant
rs1801398 -- 98,599,493(-) TTTTC(A/C)CCAGG utr-variant-3-prime
rs4851144 -- 98,604,244(+) CAAAG(C/T)ACAAA intron-variant
rs4851145 -- 98,606,453(+) GAGCA(C/T)TGGTA intron-variant

Variation tolerance for COA5 Gene

Residual Variation Intolerance Score: 71.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.19; 4.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COA5 Gene

HapMap Linkage Disequilibrium report
COA5
Human Gene Mutation Database (HGMD)
COA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for COA5 Gene

Disorders for COA5 Gene

MalaCards: The human disease database

(6) MalaCards diseases for COA5 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
  • cemcox3
fatal infantile cytochrome c oxidase deficiency
  • fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
cardioencephalomyopathy
mitochondrial cardiomyopathy
  • cardiomyopathy, maternally transmitted
mitochondrial complex iv deficiency
  • cytochrome-c oxidase deficiency disease
- elite association - COSMIC cancer census association via MalaCards
Search COA5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COA5_HUMAN
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (CEMCOX3) [MIM:616500]: An infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy and mitochondrial complex IV deficiency. Postmortem microscopic investigations show accumulation of lipid droplets in cardiomyocytes and mitochondrial proliferation. {ECO:0000269 PubMed:21457908}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COA5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COA5
genes like me logo Genes that share disorders with COA5: view

No data available for Genatlas for COA5 Gene

Publications for COA5 Gene

  1. A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. (PMID: 21457908) Huigsloot M. … Rodenburg R.J. (Am. J. Hum. Genet. 2011) 2 3 4 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase. (PMID: 22356826) Szklarczyk R. … Huynen M.A. (Genome Biol. 2012) 3
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for COA5 Gene

Sources for COA5 Gene

Back to Top

Content