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FLASH GENE
Symbol COX18 contributors: mct/npt - updated : 14-11-2022
HGNC name COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)
HGNC id 26801
DNA
TYPE functioning gene
STRUCTURE 17.40 kb     6 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 6821 - 333 - 2017 28330871
6 - 6824 - 334 - 2017 28330871
6 - 6825 - 182 - 2017 28330871
5 splicing 4429 - 336 - 2017 28330871
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivesalivary gland   highly
Endocrineparathyroid   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  highly
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • Alb3–Oxa1–YidC protein family
  • OXA1/oxaA family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    basic FUNCTION
  • involved in cytochrome c oxidase assembly
  • involved in mitochondrial biogenesis, is functionally conserved and tightly regulated (Gaisne 2006)
  • novel COX assembly gene required for membrane insertion of the C-terminal portion of COX subunit II (Sacconi 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to deep intracerebral hemorrhage (DICH)
    Variant & Polymorphism SNP
  • COX18-rs221592 G allele was associated with female DICH risks
  • Candidate gene
  • is a new candidate when screening for mitochondrial disorders associated with isolated CIV deficiency
  • Marker
    Therapy target
    ANIMAL & CELL MODELS