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Aliases for COA4 Gene

Aliases for COA4 Gene

  • Cytochrome C Oxidase Assembly Factor 4 Homolog 2 3 5
  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 8 3 4
  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 8 2 3
  • E2-Induced Gene 2 Protein 3 4
  • CHCHD8 3 4
  • E2IG2 3 4
  • Cytochrome C Oxidase Assembly Factor 4 Homolog (S. Cerevisiae) 2
  • Cytochrome C Oxidase Assembly Factor 4 Homolog, Mitochondrial 3
  • CMC3 3

External Ids for COA4 Gene

Previous HGNC Symbols for COA4 Gene

  • CHCHD8

Previous GeneCards Identifiers for COA4 Gene

  • GC11M073584

Summaries for COA4 Gene

GeneCards Summary for COA4 Gene

COA4 (Cytochrome C Oxidase Assembly Factor 4 Homolog) is a Protein Coding gene. Diseases associated with COA4 include Leigh Syndrome. Among its related pathways are Mitochondrial protein import and Metabolism of proteins.

UniProtKB/Swiss-Prot for COA4 Gene

  • Putative COX assembly factor.

Additional gene information for COA4 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COA4 Gene

Genomics for COA4 Gene

Regulatory Elements for COA4 Gene

Enhancers for COA4 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
GH11H073660 1.4 Ensembl ENCODE dbSUPER 10.2 +215.8 215790 1.6 TBP RB1 TBL1XR1 KLF17 SIN3A ZNF2 RAD21 ELK1 HSF1 ZNF143 ENSG00000206913 POLD3 MRPL48 ENSG00000256448 RELT ARHGEF17 ENSG00000255928 PAAF1 COA4 PLEKHB1
GH11H073757 1.1 ENCODE 10.4 +117.3 117284 4.6 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 MRPL48 POLD3 ENSG00000206913 ENSG00000255928 COA4 PAAF1 RNF169 PLEKHB1 ENSG00000256034 GC11P073724
GH11H073851 0.8 ENCODE 11.8 +25.6 25556 0.5 BCOR HDAC1 PKNOX1 ZMYM3 MAX POLR2A ADNP NFE2 SMARCA5 DPF2 PAAF1 COA4 MRPL48 RAB6A ENSG00000256034 ENSG00000255928 CCDC58P5
GH11H073661 0.9 ENCODE dbSUPER 10.2 +216.8 216838 0.2 SMARCA5 SMARCE1 PAX8 DPF2 ZKSCAN1 FOXA1 ZNF217 CTBP1 GATA3 POLR2A ENSG00000256448 RELT ARHGEF17 ENSG00000255928 PAAF1 COA4 GC11M073664 PLEKHB1
GH11H073931 0.7 ENCODE 10.1 -54.5 -54503 0.2 CTCF ZNF654 ZNF687 ZNF76 ZNF384 REST RAD21 RFX5 SMC3 ZNF143 COA4 PAAF1 ENSG00000255928 ARPC3P4 DNAJB13
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COA4 on UCSC Golden Path with GeneCards custom track

Promoters for COA4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for COA4 Gene

Genomic Locations for COA4 Gene
4,322 bases
Minus strand

Genomic View for COA4 Gene

Genes around COA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COA4 Gene

Proteins for COA4 Gene

  • Protein details for COA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cytochrome c oxidase assembly factor 4 homolog, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2RAA0
    • Q69YU4

    Protein attributes for COA4 Gene

    87 amino acids
    Molecular mass:
    10134 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for COA4 Gene


neXtProt entry for COA4 Gene

Post-translational modifications for COA4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COA4 Gene

No data available for DME Specific Peptides for COA4 Gene

Domains & Families for COA4 Gene

Protein Domains for COA4 Gene


Suggested Antigen Peptide Sequences for COA4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the COA4 family.
  • Belongs to the COA4 family.
genes like me logo Genes that share domains with COA4: view

Function for COA4 Gene

Molecular function for COA4 Gene

UniProtKB/Swiss-Prot Function:
Putative COX assembly factor.
UniProtKB/Swiss-Prot Induction:
Up-regulated by estrogen.
genes like me logo Genes that share phenotypes with COA4: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COA4 Gene

Localization for COA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COA4 Gene


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 COA4 gene
Compartment Confidence
mitochondrion 4
nucleus 3
extracellular 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli fibrillar center (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005758 mitochondrial intermembrane space IBA --
genes like me logo Genes that share ontologies with COA4: view

Pathways & Interactions for COA4 Gene

genes like me logo Genes that share pathways with COA4: view

Pathways by source for COA4 Gene

2 Reactome pathways for COA4 Gene

Interacting Proteins for COA4 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see details)
Selected Interacting proteins: ENSP00000347919 Q9NYJ1-COA4_HUMAN for COA4 Gene via STRING IID

Gene Ontology (GO) - Biological Process for COA4 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 COA4: view

No data available for SIGNOR curated interactions for COA4 Gene

Drugs & Compounds for COA4 Gene

No Compound Related Data Available

Transcripts for COA4 Gene

Unigene Clusters for COA4 Gene

Cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COA4 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c
SP1: - -
SP2: - - -
SP3: -
SP4: -

Relevant External Links for COA4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COA4 Gene

Protein differential expression in normal tissues from HIPED for COA4 Gene

This gene is overexpressed in Bone (10.6), Heart (9.4), and Fetal Liver (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COA4 Gene

Protein tissue co-expression partners for COA4 Gene

NURSA nuclear receptor signaling pathways regulating expression of COA4 Gene:


SOURCE GeneReport for Unigene cluster for COA4 Gene:


Evidence on tissue expression from TISSUES for COA4 Gene

  • Liver(4.3)
  • Nervous system(4.2)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with COA4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COA4 Gene

Orthologs for COA4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COA4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia COA4 33 34
  • 100 (n)
(Canis familiaris)
Mammalia CHCHD8 33
  • 88.49 (n)
(Rattus norvegicus)
Mammalia Coa4 33
  • 88.12 (n)
(Mus musculus)
Mammalia Coa4 33 16 34
  • 86.97 (n)
(Bos Taurus)
Mammalia CHCHD8 33
  • 86.67 (n)
(Ornithorhynchus anatinus)
Mammalia COA4 34
  • 66 (a)
(Monodelphis domestica)
Mammalia COA4 34
  • 46 (a)
(Anolis carolinensis)
Reptilia COA4 34
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9065 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32879 33
(Danio rerio)
Actinopterygii BX088524.2 34
  • 42 (a)
Species where no ortholog for COA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 COA4 Gene

Gene Tree for COA4 (if available)
Gene Tree for COA4 (if available)

Paralogs for COA4 Gene

No data available for Paralogs for COA4 Gene

Variants for COA4 Gene

Sequence variations from dbSNP and Humsavar for COA4 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000254941 -- 73,877,580(+) GTTCC(A/T)GCTCT intron-variant, upstream-variant-2KB
rs1000568787 -- 73,878,330(+) CATAG(A/C/G)CCCTT intron-variant, upstream-variant-2KB
rs1000914254 -- 73,872,493(+) TCAAT(G/T)TTTGA intron-variant, utr-variant-3-prime
rs1001053758 -- 73,871,659(+) TGCAC(A/G)CTGCT utr-variant-3-prime
rs1001145992 -- 73,871,720(+) TTATA(A/G)TTTGC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for COA4 Gene

Variant ID Type Subtype PubMed ID
nsv1035977 CNV gain 25217958
esv3626824 CNV gain 21293372

Variation tolerance for COA4 Gene

Residual Variation Intolerance Score: 74.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.03; 21.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COA4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COA4 Gene

Disorders for COA4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for COA4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards
Search COA4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for COA4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with COA4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COA4 Gene

Publications for COA4 Gene

  1. Effects of estrogen on global gene expression: identification of novel targets of estrogen action. (PMID: 11085516) Charpentier AH … Aldaz CM (Cancer research 2000) 2 3 4 60
  2. Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor family. (PMID: 20624914) Bestwick M … Winge DR (Molecular and cellular biology 2010) 2 3 60
  3. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 60
  4. Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 4 60
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 60

Products for COA4 Gene

Sources for COA4 Gene

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