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Symbol SCO2 contributors: mct - updated : 06-06-2013
HGNC name SCO cytochrome oxidase deficient homolog 2 (yeast)
HGNC id 10604
Corresponding disease
CEML cardioencephalomyopathy lethal
Location 22q13.33      Physical location : 50.961.998 - 50.964.868
Synonym name
  • complex 4 of the respiratory chain
  • synthesis of cytochrome c oxidase deficient homolog 2
  • Synonym symbol(s) SCO1L, CEMCOX1
    TYPE functioning gene
    STRUCTURE 2.87 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D22S274 - D22S1141 - FBLN1 - D22S1170 - D22S1169 - SCO2 - qter
    Authors GeneMap (98)
    Physical map
    MOV10L1 22q13.33 Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) PANX2 22q13.33 pannexin 2 PP2447 22q13.33 hypothetical protein PP2447 SELO 22q13.33 selenoprotein O TUBGCP6 22q13.31-q13.33 tubulin, gamma complex associated protein 6 HDAC10 22q13.31 histone deacetylase 10 MAPK12 22q13.33 mitogen-activated protein kinase 12 MAPK11 22q13.33 mitogen-activated protein kinase 11 PLXNB2 22q13.31-q13.33 plexin B2 KIAA0685 22q13.3 plexin B2 SBF1 22q13.33 SET binding factor 1 FLJ21135 ALDRL6 22q13.3 aldehyde reductase (aldose reductase) like 6 BC002942 22q13.33 hypothetical protein BC002942 384D8-2 22q13.33 hypothetical protein 384D8_6 SCO2 22q13.33 SCO cytochrome oxidase deficient homolog 2 (yeast) ECGF1 22q13.3 endothelial cell growth factor 1 (platelet-derived) LOC391341 22 similar to MGC52679 protein LOC113730 22q13.33 hypothetical protein BC009980 LOC388918 22 LOC388918 CHKL-CPT1B 22q13.33 choline kinase-like, carnitine palmitoyltransferase 1B (muscle) transcription unit CPT1B 22q13.3 carnitine palmitoyltransferase 1B (muscle) CHKL 22q13.33 choline kinase-like MAPK8IP2 22q13.2-q13.33 mitogen-activated protein kinase 8 interacting protein 2 ARSA 22q13.33 arylsulfatase A SHANK3 22q13-3 SH3 and multiple ankyrin repeat domains 3
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1051 - 266 - 2004 15229189
    2 - 1002 - 266 - 2004 15229189
    2 - 1005 - 266 - 2004 15229189
    2 - 1020 - 266 - 2004 15229189
    Type ubiquitous
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   predominantly
    Digestiveintestinelarge intestinecolon highly
    Respiratorylung   highly
    Visualeyeretina    Mus musculus
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Mus musculus
    Muscularstriatumskeletal highly Homo sapiens
    cell lineage
    cell lines
    at STAGE
  • 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
    interspecies homolog to yeast SCO2
    homolog to C.elegans 01f1.2
    intraspecies paralog to SCO1
    FAMILY SCO1/2 family
    CATEGORY chaperone/stress , enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    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
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text mitochondrial copper transport
    a component COX assembly gene
    small molecule metal binding,
    copper Cu2+
  • 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
    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
    Therapy target