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Aliases for COA5 Gene

Aliases for COA5 Gene

  • Cytochrome C Oxidase Assembly Factor 5 2 3 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. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

UniProtKB/Swiss-Prot for COA5 Gene

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

Additional gene information for COA5 Gene

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

Genomics for COA5 Gene

GeneHancer (GH) Regulatory Elements for COA5 Gene

Promoters and enhancers for COA5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J098606 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 -0.3 -305 4.2 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B E2F8 ZNF207 UNC50 COA5 INPP4A RNU7-46P LIPT1 TSGA10 MRPL30 PIR57027
GH02J098583 Enhancer 0.9 ENCODE 12 +24.3 24254 1.2 FOXA2 ZFP64 ARID4B DMAP1 ZNF48 YY1 MXD4 MIER2 PPARG KAT8 UNC50 COA5 KIAA1211L PIR35284 INPP4A
GH02J098556 Enhancer 0.9 FANTOM5 ENCODE 11.6 +51.8 51775 1.3 SRF PKNOX1 STAT1 NR2F1 ZBED1 EBF1 DPF2 ATF2 IRF4 IKZF1 INPP4A COA5 UNC50 ENSG00000227987 CNGA3 PIR35284
GH02J098559 Enhancer 0.8 ENCODE 11.6 +48.2 48181 2.4 HDGF HDAC1 PKNOX1 ATF1 FOS ATF7 CREM SMAD5 ZBTB11 ELF1 COA5 UNC50 PIR35284 INPP4A
GH02J098604 Enhancer 0.3 dbSUPER 0.7 +2.9 2895 1.3 GLIS1 COA5 PIR35284
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COA5 on UCSC Golden Path with GeneCards custom track

Genomic Locations for COA5 Gene

Genomic Locations for COA5 Gene
chr2:98,599,310-98,608,518
(GRCh38/hg38)
Size:
9,209 bases
Orientation:
Minus strand
chr2:99,215,773-99,224,978
(GRCh37/hg19)

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

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

Gene Families for COA5 Gene

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

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.

Gene Ontology (GO) - Molecular Function for COA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with COA5: view
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 Coa5<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COA5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for COA5 Gene

Localization for COA5 Gene

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 COA5 gene
Compartment Confidence
mitochondrion 4
extracellular 2
nucleus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IBA --
genes like me logo Genes that share ontologies with COA5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for COA5 Gene

Pathways & Interactions for COA5 Gene

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

Pathways by source for COA5 Gene

1 KEGG pathway for COA5 Gene

Interacting Proteins for COA5 Gene

Gene Ontology (GO) - Biological Process for COA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033617 mitochondrial respiratory chain complex IV assembly IBA --
genes like me logo Genes that share ontologies with COA5: view

No data available for 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

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

Unigene Clusters for COA5 Gene

Cytochrome c oxidase assembly factor 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COA5

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for COA5 Gene



NURSA nuclear receptor signaling pathways regulating expression of COA5 Gene:

COA5

SOURCE GeneReport for Unigene cluster for COA5 Gene:

Hs.596537

Evidence on tissue expression from TISSUES for COA5 Gene

  • Pancreas(4.1)
  • Nervous system(3.4)
  • Kidney(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COA5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebrospinal fluid
  • chin
  • ear
  • eye
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • liver
General:
  • spinal cord
genes like me logo Genes that share expression patterns with COA5: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia COA5 34 33
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COA5 34 33
  • 88.74 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COA5 34 33
  • 87.84 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Coa5 33
  • 86.49 (n)
mouse
(Mus musculus)
Mammalia Coa5 16 34 33
  • 85.59 (n)
oppossum
(Monodelphis domestica)
Mammalia COA5 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves COA5 33
  • 71.62 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia coa5 33
  • 72.97 (n)
zebrafish
(Danio rerio)
Actinopterygii coa5 34 33
  • 67.12 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13018 34
  • 52 (a)
OneToOne
Species where no ortholog for COA5 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for COA5: view image

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 Variation AA Info Type
rs387907099 pathogenic, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (CEMCOX3) [MIM:616500] 98,604,134(-) C/G/T coding_sequence_variant, missense_variant
rs372867268 uncertain-significance, not specified 98,600,749(-) G/C 3_prime_UTR_variant
rs1000001827 -- 98,602,610(-) C/G intron_variant
rs1000044007 -- 98,601,000(-) C/T intron_variant
rs1000173271 -- 98,601,954(-) A/G 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)

Additional Variant Information for COA5 Gene

Human Gene Mutation Database (HGMD)
COA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COA5

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 COA5 Gene

Disorders for COA5 Gene

MalaCards: The human disease database

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

- 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.

Additional Disease Information for 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 RJ (American journal of human genetics 2011) 2 3 4 58
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  3. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 58
  4. 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 MA (Genome biology 2012) 3 58
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 58

Products for COA5 Gene

Sources for COA5 Gene

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