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FLASH GENE
Symbol SCO2 contributors: mct - updated : 06-06-2013
HGNC name SCO cytochrome oxidase deficient homolog 2 (yeast)
HGNC id 10604
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   predominantly
Digestiveintestinelarge intestinecolon highly
Respiratorylung   highly
Visualeyeretina    Mus musculus
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  highly
Epithelialbarrier liningretinal pigment epithelium (RPE)   Mus musculus
Muscularstriatumskeletal highly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal mitochondrial targeting presequence
  • a "core" region of greatest sequence identity and
  • a containing a copper binding CXXXC motif
  • a single transmembrane domain
  • conjugated MetalloP
    HOMOLOGY
    interspecies homolog to yeast SCO2
    homolog to C.elegans 01f1.2
    intraspecies paralog to SCO1
    Homologene
    FAMILY SCO1/2 family
    CATEGORY chaperone/stress , enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • catalyzing the synthesis of cytochrome C oxidase 2
  • mitochondrial inner membrane protein that probably functions as a copper transporter, involved in mitochondria copper delivery
  • functioning as copper-binding protein
  • essential for the assembly of the catalytic core of cytochrome oxidase (COX)
  • involved in copper supply for the assembly of cytochrome c oxidase in eukaryotes (Banci 2007)
  • SCO2 acts upstream of SCO1, and that it is indispensable for CO II synthesis
  • cytochrome c oxidase assembly factor, is a metallochaperone which is involved in the biogenesis of cytochrome c oxidase subunit II
  • might possess a novel tumor suppressor function via the ROS-MAP3K5 kinase pathway and thus could be an important candidate for anticancer gene therapy
  • SCO1 and SCO2 are metallochaperones whose principal function is to add two copper ions to the catalytic core of cytochrome c oxidase (COX)
  • copper chaperone integral to oxygen reduction catalysis by cytochrome c oxidase of the mitochondrial respiratory chain
  • important for cytochrome C oxidase (COX) synthesis
  • copper homeostasis protein influential in mitochondrial cytochrome c oxidase activity
  • may play an important role in eye growth and development, particularly in those who become highly myopic
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text mitochondrial copper transport
    PATHWAY
    metabolism
    signaling
    a component COX assembly gene
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    copper Cu2+
    protein
  • interacting with SCO1 for copper delivery to cytochrome C oxidase
  • TP53 can modulate the metabolic pathways via the proteins SCO2 and TIGAR in human breast cancer
  • 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) CEML
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast cancer (
    Susceptibility to high-grade myopia
    Variant & Polymorphism other
  • four heterozygous mutations—c.157C>T (p.Gln53*), c.341G>A (p.Arg114His), c.418G>A (p.Glu140Lys), and c.776C>T (p.Ala259Val)—associated with high-grade myopia
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS