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FLASH GENE
Symbol COX20 contributors: mct - updated : 30-04-2013
HGNC name Cox2 chaperone homolog (S. cerevisiae)
HGNC id 26970
Corresponding disease
AHMU ataxia and muscle hypotonia
Location 1q44      Physical location : -
Synonym name
  • protein FAM36A
  • family with sequence similarity 36, member A
  • cytochrome c oxidase protein 20 homolog
  • Synonym symbol(s) FLJ43269, FAM36A
    DNA
    TYPE functioning gene
    STRUCTURE 9.72 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 2632 - 118 - 2012 22678713
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   moderately
    Digestiveintestinesmall intestine  highly
     liver   predominantly
     stomach   moderately
    Lymphoid/Immunelymph node   highly
    Nervousbrain   moderately
    Reproductivefemale systemuteruscervix highly
     male systemprostate  moderately
    Respiratorylung   moderately
    Urinarybladder   moderately
     kidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • hydrophilic domains located in the intermembrane space
  • C-terminus is substantially protected from proteinase K by the outer mitochondrial membrane
  • HOMOLOGY
    interspecies ortholog to rattus Fam36a_predicted
    ortholog to fungal complex IV assembly factor COX20
    Homologene
    FAMILY
  • FAM36 family
  • CATEGORY chaperone/stress , enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text integral inner membrane protein
    basic FUNCTION
  • acts as a membrane-bound chaperone necessary for cleavage of COX2 and for interaction of the mature protein with other subunits of cytochrome oxidase in a later step of the assembly process
  • control the coordinate assembly process to prevent potentially harmful redox reactions of unassembled or misassembled subunits
  • serves as a substrate-specific cofactor during proteolysis and modulates the initial interaction of nonassembled COX2 with the protease
  • required for efficient export of the COX2 C-tail
  • COX20 chaperone has important roles in leader peptide processing, C-tail export, and stabilization of COX2
  • involvement of FAM36A in complex IV function
  • function in complex IV assembly
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts by co-immune precipitation with COX18, and this interaction requires the presence of COX2
  • COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AHMU
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS