Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

SCO2

contributors: mct - updated : 06-06-2013

HGNC name	SCO cytochrome oxidase deficient homolog 2 (yeast)
HGNC id	10604

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

DNA

TYPE	functioning gene
STRUCTURE	2.87 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

motif

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D22S274 - D22S1141 - FBLN1 - D22S1170 - D22S1169 - SCO2 - qter
Authors	GeneMap (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001169109 2 - 1051 NP_001162580 - 266 - 2004 15229189 NM_001169110 2 - 1002 NP_001162581 - 266 - 2004 15229189 NM_005138 2 - 1005 NP_005129 - 266 - 2004 15229189 NM_001169111 2 - 1020 NP_001162582 - 266 - 2004 15229189

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       predominantly Digestive intestine large intestine colon   highly Respiratory lung       highly Visual eye retina       Mus musculus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Epithelial barrier lining retinal pigment epithelium (RPE)     Mus musculus Muscular striatum skeletal   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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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