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Gene: SCO2 (synthesis of cytochrome C oxidase 2) Homo sapiens
Symbol: SCO2
Name: synthesis of cytochrome C oxidase 2
Description: Exhibits protein disulfide oxidoreductase activity. Involved in eye development and mitochondrial cytochrome c oxidase assembly. Localizes to integral component of mitochondrial inner membrane and myofibril. Implicated in cytochrome-c oxidase deficiency disease; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1; hypertrophic cardiomyopathy; and myopia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CEMCOX1; cytochrome oxidase deficient homolog 2; ECGF1; Gliostatin; MGC125823; MGC125825; myopia 6; MYP6; PD-ECGF; Platelet-derived endothelial cell growth factor; protein SCO2 homolog, mitochondrial; SCO cytochrome c oxidase assembly protein 2; SCO cytochrome oxidase deficient homolog 2; SCO1L; TdRPase; Thymidine phosphorylase; TP; TYMP
Mus musculus (house mouse) : Sco2 (SCO2 cytochrome c oxidase assembly protein)  MGI  Alliance
Chinchilla lanigera (long-tailed chinchilla) : LOC106146232 (protein SCO2 homolog, mitochondrial)
Pan paniscus (bonobo/pygmy chimpanzee) : LOC100976808 (protein SCO2 homolog, mitochondrial)
Canis lupus familiaris (dog) : LOC481187 (protein SCO2 homolog, mitochondrial)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : LOC101962609 (protein SCO2 homolog, mitochondrial)
Sus scrofa (pig) : SCO2 (SCO cytochrome oxidase deficient homolog 2 (yeast))
Chlorocebus sabaeus (African green monkey) : SCO2 (SCO2, cytochrome c oxidase assembly protein)
Heterocephalus glaber (naked mole-rat) : LOC106007592 (protein SCO2 homolog, mitochondrial)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl2250,523,568 - 50,526,461 (-)EnsemblGRCh38hg38GRCh38
GRCh382250,523,568 - 50,526,439 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372250,961,997 - 50,964,868 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,308,863 - 49,310,900 (-)NCBINCBI36hg18NCBI36
Build 342249,252,142 - 49,254,116NCBI
Celera2234,838,024 - 34,840,895 (-)NCBI
Cytogenetic Map22q13.33NCBI
HuRef2233,853,015 - 33,855,886 (-)NCBIHuRef
CHM1_12250,920,734 - 50,923,605 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on SCO2
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1347479
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.