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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
Location 4q13.3      Physical location : 73.920.415 - 73.935.472
Synonym name
  • Cox18Hs1 protein
  • Cox18Hs2 protein
  • Cox18Hs3 protein
  • mitochondrial COX18
    • Synonym symbol(s) COX18HS, FLJ38991, MGC126733, OXA1L2
    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