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Aliases for COX18 Gene

Aliases for COX18 Gene

  • COX18, Cytochrome C Oxidase Assembly Factor 2 3 5
  • Cytochrome C Oxidase Assembly Protein 18 3 4
  • COX18 Cytochrome C Oxidase Assembly Homolog (S. Cerevisiae) 2
  • Cytochrome C Oxidase Assembly Protein COX18, Mitochondrial 3
  • Cytochrome C Oxidase Assembly Homolog 18 (Yeast) 2
  • Mitochondrial Inner Membrane Protein COX18 3
  • Cytochrome C Oxidase Assembly Homolog 18 3
  • COX18HS 3
  • COX18Hs 4
  • OXA1L2 4

External Ids for COX18 Gene

Previous GeneCards Identifiers for COX18 Gene

  • GC04M074139
  • GC04M073920
  • GC04M069726

Summaries for COX18 Gene

Entrez Gene Summary for COX18 Gene

  • This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for COX18 Gene

COX18 (COX18, Cytochrome C Oxidase Assembly Factor) is a Protein Coding gene. Among its related pathways are Gene Expression and Metabolism. Gene Ontology (GO) annotations related to this gene include protein transporter activity. An important paralog of this gene is OXA1L.

UniProtKB/Swiss-Prot for COX18 Gene

  • Mitochondrial membrane insertase required for the translocation of the C-terminus of cytochrome c oxidase subunit II (MT-CO2/COX2) across the mitochondrial inner membrane. Plays a role in MT-CO2/COX2 maturation following the COX20-mediated stabilization of newly synthesized MT-CO2/COX2 protein and before the action of the metallochaperones SCO1/2. Essential for the assembly and stability of the mitochondrial respiratory chain complex IV (also known as cytochrome c oxidase).

Additional gene information for COX18 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX18 Gene

Genomics for COX18 Gene

GeneHancer (GH) Regulatory Elements for COX18 Gene

Promoters and enhancers for COX18 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
GH04J073066 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.1 1082 5 HDGF FOXA2 PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 COX18 ENSG00000221639 ANKRD17 ENSG00000250220 RNU6ATAC5P
GH04J073090 Enhancer 0.5 dbSUPER 12.3 -22.0 -22036 3.1 SCRT2 JUNB EBF1 PRDM4 COX18 ENSG00000250220 ANKRD17 ENSG00000221639 HMGA1P2
GH04J073075 Enhancer 0.7 UCNEbase 0.4 -6.1 -6061 0.3 ZNF316 MAFF FOXA2 MAFG EMSY MAFK FOXA1 ENSG00000221639 COX18 HMGA1P2 ANKRD17
GH04J073085 Enhancer 0.7 Ensembl ENCODE dbSUPER 0.4 -16.5 -16456 1.2 IRF2 ENSG00000221639 ANKRD17 ENSG00000250220 RNU6ATAC5P HMGA1P2 COX18
GH04J073071 Enhancer 0.2 dbSUPER 0.7 -2.1 -2119 1.3 ENSG00000221639 COX18 HMGA1P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COX18 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COX18 gene promoter:
  • LCR-F1
  • AhR
  • FOXO4
  • FOXO1a
  • FOXO1
  • Ik-2
  • AML1a
  • Hlf
  • CUTL1

Genomic Locations for COX18 Gene

Genomic Locations for COX18 Gene
chr4:73,052,362-73,069,759
(GRCh38/hg38)
Size:
17,398 bases
Orientation:
Minus strand
chr4:73,920,416-73,935,472
(GRCh37/hg19)
Size:
15,057 bases
Orientation:
Minus strand

Genomic View for COX18 Gene

Genes around COX18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX18 Gene

Proteins for COX18 Gene

  • Protein details for COX18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N8Q8-COX18_HUMAN
    Recommended name:
    Cytochrome c oxidase assembly protein COX18, mitochondrial
    Protein Accession:
    Q8N8Q8
    Secondary Accessions:
    • Q2PB66
    • Q2PB67
    • Q2PB68
    • Q49B97
    • Q6IPP9

    Protein attributes for COX18 Gene

    Size:
    333 amino acids
    Molecular mass:
    37063 Da
    Quaternary structure:
    • Found in a complex with TMEM177, COA6, MT-CO2/COX2, COX20, SCO1 and SCO2 (PubMed:29154948). Interacts transiently with MT-CO2/COX2 during its maturation (PubMed:28330871). Interacts with COX20 in a MT-CO2/COX2-dependent manner (PubMed:28330871).
    SequenceCaution:
    • Sequence=AAH71812.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for COX18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COX18 Gene

Post-translational modifications for COX18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for COX18 Gene

Domains & Families for COX18 Gene

Gene Families for COX18 Gene

Protein Domains for COX18 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COX18 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N8Q8

UniProtKB/Swiss-Prot:

COX18_HUMAN :
  • Belongs to the OXA1/ALB3/YidC family.
Family:
  • Belongs to the OXA1/ALB3/YidC family.
genes like me logo Genes that share domains with COX18: view

Function for COX18 Gene

Molecular function for COX18 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial membrane insertase required for the translocation of the C-terminus of cytochrome c oxidase subunit II (MT-CO2/COX2) across the mitochondrial inner membrane. Plays a role in MT-CO2/COX2 maturation following the COX20-mediated stabilization of newly synthesized MT-CO2/COX2 protein and before the action of the metallochaperones SCO1/2. Essential for the assembly and stability of the mitochondrial respiratory chain complex IV (also known as cytochrome c oxidase).

Phenotypes From GWAS Catalog for COX18 Gene

Gene Ontology (GO) - Molecular Function for COX18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28330871
GO:0008565 protein transporter activity IGI 16911509
GO:0032977 membrane insertase activity IDA 28330871
genes like me logo Genes that share ontologies with COX18: view
genes like me logo Genes that share phenotypes with COX18: view

Animal Model Products

  • Taconic Biosciences Mouse Models for COX18

CRISPR Products

miRNA for COX18 Gene

miRTarBase miRNAs that target COX18

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX18

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COX18 Gene

Localization for COX18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX18 Gene

Mitochondrion inner 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 COX18 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
lysosome 1

Gene Ontology (GO) - Cellular Components for COX18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031305 integral component of mitochondrial inner membrane IDA 16212937
genes like me logo Genes that share ontologies with COX18: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COX18 Gene

Pathways & Interactions for COX18 Gene

genes like me logo Genes that share pathways with COX18: view

Gene Ontology (GO) - Biological Process for COX18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008535 respiratory chain complex IV assembly IGI 16911509
GO:0015031 protein transport IEA --
GO:0032979 protein insertion into mitochondrial membrane from inner side IDA 28330871
GO:0033617 mitochondrial respiratory chain complex IV assembly IMP 28330871
GO:0051204 protein insertion into mitochondrial membrane IGI 16911509
genes like me logo Genes that share ontologies with COX18: view

No data available for SIGNOR curated interactions for COX18 Gene

Drugs & Compounds for COX18 Gene

No Compound Related Data Available

Transcripts for COX18 Gene

Unigene Clusters for COX18 Gene

Cytochrome c oxidase assembly homolog 18 (yeast):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX18

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COX18 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6
SP1:
SP2:
SP3:

Relevant External Links for COX18 Gene

GeneLoc Exon Structure for
COX18
ECgene alternative splicing isoforms for
COX18

Expression for COX18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COX18 Gene

Protein differential expression in normal tissues from HIPED for COX18 Gene

This gene is overexpressed in Bone (35.2), Urinary Bladder (6.7), and Kidney (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COX18 Gene



NURSA nuclear receptor signaling pathways regulating expression of COX18 Gene:

COX18

SOURCE GeneReport for Unigene cluster for COX18 Gene:

Hs.356697

Evidence on tissue expression from TISSUES for COX18 Gene

  • Muscle(4.3)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with COX18: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COX18 Gene

Orthologs for COX18 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for COX18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COX18 34 33
  • 99.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COX18 34 33
  • 85.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COX18 34
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cox18 16 34 33
  • 77.88 (n)
rat
(Rattus norvegicus)
Mammalia Cox18 33
  • 75.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COX18 34
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COX18 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves COX18 34 33
  • 66.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COX18 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cox18 33
  • 64.31 (n)
Str.20178 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.26154 33
zebrafish
(Danio rerio)
Actinopterygii zgc:174864 33
  • 60.1 (n)
COX18 34
  • 52 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2380 33
fruit fly
(Drosophila melanogaster)
Insecta CG4942 34 33
  • 53.58 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005624 33
  • 50.54 (n)
worm
(Caenorhabditis elegans)
Secernentea Y55F3AR.1 34
  • 22 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OXA1 34
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 16 (a)
ManyToMany
Species where no ortholog for COX18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COX18 Gene

ENSEMBL:
Gene Tree for COX18 (if available)
TreeFam:
Gene Tree for COX18 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COX18: view image

Paralogs for COX18 Gene

Paralogs for COX18 Gene

genes like me logo Genes that share paralogs with COX18: view

Variants for COX18 Gene

Sequence variations from dbSNP and Humsavar for COX18 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000028337 -- 73,069,276(-) G/T intron_variant
rs1000220295 -- 73,069,059(-) C/A intron_variant
rs1000592815 -- 73,070,624(-) A/G upstream_transcript_variant
rs1000653198 -- 73,070,378(-) G/A/C upstream_transcript_variant
rs1000905965 -- 73,057,694(-) C/A 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for COX18 Gene

Variant ID Type Subtype PubMed ID
esv3600984 CNV gain 21293372
esv3600985 CNV gain 21293372
nsv523169 CNV gain 19592680

Variation tolerance for COX18 Gene

Residual Variation Intolerance Score: 47.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX18

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX18 Gene

Disorders for COX18 Gene

Additional Disease Information for COX18

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for COX18 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COX18 Gene

Publications for COX18 Gene

  1. The COX18 gene, involved in mitochondrial biogenesis, is functionally conserved and tightly regulated in humans and fission yeast. (PMID: 16911509) Gaisne M … Bonnefoy N (FEMS yeast research 2006) 2 3 4 22 58
  2. Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module. (PMID: 28330871) Bourens M … Barrientos A (The Journal of biological chemistry 2017) 2 3 4 58
  3. hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly. (PMID: 16212937) Sacconi S … Salviati L (Biochemical and biophysical research communications 2005) 2 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PMID: 20819778) Zhang X … Wu X (Carcinogenesis 2010) 3 44 58

Products for COX18 Gene

Sources for COX18 Gene

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