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Aliases for SCO2 Gene

Aliases for SCO2 Gene

  • SCO2 Cytochrome C Oxidase Assembly Protein 2 3
  • CEMCOX1 3 6
  • MYP6 3 6
  • SCO (Cytochrome Oxidase Deficient, Yeast) Homolog 2 2
  • SCO Cytochrome Oxidase Deficient Homolog 2 (Yeast) 2
  • SCO Cytochrome Oxidase Deficient Homolog 2 3
  • Protein SCO2 Homolog, Mitochondrial 3
  • Myopia 6 2
  • SCO1L 3

External Ids for SCO2 Gene

Previous HGNC Symbols for SCO2 Gene

  • MYP6

Previous GeneCards Identifiers for SCO2 Gene

  • GC22M047466
  • GC22M049094
  • GC22M049252
  • GC22M049308
  • GC22M050961
  • GC22M033853

Summaries for SCO2 Gene

Entrez Gene Summary for SCO2 Gene

  • Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]

GeneCards Summary for SCO2 Gene

SCO2 (SCO2 Cytochrome C Oxidase Assembly Protein) is a Protein Coding gene. Diseases associated with SCO2 include cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 and myopia 6. Among its related pathways are superpathway of pyrimidine ribonucleosides degradation. GO annotations related to this gene include copper ion binding. An important paralog of this gene is SCO1.

UniProtKB/Swiss-Prot for SCO2 Gene

  • Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2)

Gene Wiki entry for SCO2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCO2 Gene

Genomics for SCO2 Gene

Regulatory Elements for SCO2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SCO2 Gene

Start:
50,523,568 bp from pter
End:
50,526,439 bp from pter
Size:
2,872 bases
Orientation:
Minus strand

Genomic View for SCO2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SCO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCO2 Gene

Proteins for SCO2 Gene

  • Protein details for SCO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43819-SCO2_HUMAN
    Recommended name:
    Protein SCO2 homolog, mitochondrial
    Protein Accession:
    O43819
    Secondary Accessions:
    • Q3T1B5
    • Q9UK87

    Protein attributes for SCO2 Gene

    Size:
    266 amino acids
    Molecular mass:
    29810 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SCO2 Gene

neXtProt entry for SCO2 Gene

Proteomics data for SCO2 Gene at MOPED

Post-translational modifications for SCO2 Gene

  • Ubiquitination at Lys196
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SCO2 Gene

Domains for SCO2 Gene

Gene Families for SCO2 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

Suggested Antigen Peptide Sequences for SCO2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43819

UniProtKB/Swiss-Prot:

SCO2_HUMAN :
  • O43819
Domain:
  • Contains 1 thioredoxin domain.
Family:
  • Belongs to the SCO1/2 family.
genes like me logo Genes that share domains with SCO2: view

Function for SCO2 Gene

Molecular function for SCO2 Gene

GENATLAS Biochemistry: yeast SCO2 homolog,COX assembly gene,catalyzing the synthesis of cytochrome C oxidase 2,predominantly expressed in heart,skeletal muscle,also expressed in brain and kidney
UniProtKB/Swiss-Prot Function: Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2)

Gene Ontology (GO) - Molecular Function for SCO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005507 copper ion binding NAS 10545952
genes like me logo Genes that share ontologies with SCO2: view
genes like me logo Genes that share phenotypes with SCO2: view

Animal Models for SCO2 Gene

MGI Knock Outs for SCO2:

Animal Model Products

CRISPR Products

miRNA for SCO2 Gene

miRTarBase miRNAs that target SCO2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SCO2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SCO2 Gene

Localization for SCO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCO2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCO2 Gene COMPARTMENTS Subcellular localization image for SCO2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for SCO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion TAS 10545952
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with SCO2: view

Pathways for SCO2 Gene

genes like me logo Genes that share pathways with SCO2: view

Pathways by source for SCO2 Gene

1 BioSystems pathway for SCO2 Gene

Gene Ontology (GO) - Biological Process for SCO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001654 eye development IMP 23643385
GO:0001701 in utero embryonic development IEA --
GO:0003012 muscle system process IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006825 copper ion transport IEA --
genes like me logo Genes that share ontologies with SCO2: view

Compounds for SCO2 Gene

(1) HMDB Compounds for SCO2 Gene

Compound Synonyms Cas Number PubMed IDs
Copper
  • Cu
7440-50-8

(4) Novoseek inferred chemical compound relationships for SCO2 Gene

Compound -log(P) Hits PubMed IDs
copper histidine 85 2
copper 61.9 15
oxygen 0 1
superoxide 0 1
genes like me logo Genes that share compounds with SCO2: view

Transcripts for SCO2 Gene

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SCO2

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCO2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c
SP1: - -
SP2: -
SP3:

Relevant External Links for SCO2 Gene

GeneLoc Exon Structure for
SCO2
ECgene alternative splicing isoforms for
SCO2

Expression for SCO2 Gene

mRNA expression in normal human tissues for SCO2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCO2 Gene

This gene is overexpressed in Whole Blood (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SCO2 Gene

mRNA Expression by UniProt/SwissProt for SCO2 Gene

O43819-SCO2_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with SCO2: view

In Situ Assay Products

Orthologs for SCO2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SCO2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCO2 35
  • 98.62 (n)
  • 98.5 (a)
SCO2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SCO2 35
  • 84.78 (n)
  • 84.15 (a)
SCO2 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCO2 35
  • 81.13 (n)
  • 81.13 (a)
SCO2 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sco2 35
  • 79.73 (n)
  • 81.6 (a)
Sco2 16
Sco2 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCO2 35
  • 70.16 (n)
  • 67.54 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497895 35
  • 60.61 (n)
  • 61.24 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1027 35
zebrafish
(Danio rerio)
Actinopterygii sco2 35
  • 61.63 (n)
  • 65.85 (a)
sco2 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8885 37
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea C01F1.2 37
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCO1 36
  • 27 (a)
ManyToMany
SCO1 38
SCO2 36
  • 24 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1093 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6145 36
  • 33 (a)
OneToOne
Species with no ortholog for SCO2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SCO2 Gene

ENSEMBL:
Gene Tree for SCO2 (if available)
TreeFam:
Gene Tree for SCO2 (if available)

Paralogs for SCO2 Gene

Paralogs for SCO2 Gene

Selected SIMAP similar genes for SCO2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SCO2: view

Variants for SCO2 Gene

Sequence variations from dbSNP and Humsavar for SCO2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
VAR_008874 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1)
VAR_008874 Myopia 6 (MYP6)
VAR_008875 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1)
VAR_011738 -
VAR_013238 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1)

Structural Variations from Database of Genomic Variants (DGV) for SCO2 Gene

Variant ID Type Subtype PubMed ID
nsv915495 CNV Loss 21882294
nsv914525 CNV Loss 21882294
dgv5062n71 CNV Loss 21882294
nsv834238 CNV Loss 17160897
nsv471224 CNV Loss 18288195
nsv914542 CNV Loss 21882294
nsv914543 CNV Loss 21882294
dgv5064n71 CNV Loss 21882294
dgv5065n71 CNV Loss 21882294
nsv834239 CNV Loss 17160897
dgv1422e1 CNV Complex 17122850
dgv5066n71 CNV Loss 21882294
nsv914554 CNV Loss 21882294
nsv829340 CNV Gain 20364138
dgv5067n71 CNV Loss 21882294
nsv914556 CNV Loss 21882294

Relevant External Links for SCO2 Gene

HapMap Linkage Disequilibrium report
SCO2
Human Gene Mutation Database (HGMD)
SCO2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCO2 Gene

Disorders for SCO2 Gene

(2) OMIM Diseases for SCO2 Gene (604272)

UniProtKB/Swiss-Prot

SCO2_HUMAN
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1) [MIM:604377]: A disorder characterized by hypotonia, developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, neuronal loss in basal ganglia, brainstem and spinal cord, and cytochrome c oxidase deficiency. {ECO:0000269 PubMed:10545952, ECO:0000269 PubMed:10749987, ECO:0000269 PubMed:11673586, ECO:0000269 PubMed:14994243}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopia 6 (MYP6) [MIM:608908]: A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. {ECO:0000269 PubMed:23643385}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SCO2 Gene

(10) Novoseek inferred disease relationships for SCO2 Gene

Disease -log(P) Hits PubMed IDs
cytochrome c oxidase deficiency 94 6
leigh syndrome 88.1 5
mitochondrial diseases 77.9 3
werdnig-hoffmann disease 69.1 3
muscular atrophy spinal 62 4

Relevant External Links for SCO2

Genetic Association Database (GAD)
SCO2
Human Genome Epidemiology (HuGE) Navigator
SCO2
genes like me logo Genes that share disorders with SCO2: view

Publications for SCO2 Gene

  1. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. (PMID: 10749987) Jaksch M. … Shoubridge E.A. (Hum. Mol. Genet. 2000) 3 4 23 48
  2. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. (PMID: 10545952) Papadopoulou L.C. … Schon E.A. (Nat. Genet. 1999) 3 4 23
  3. Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. (PMID: 14994243) Tarnopolsky M.A. … Robinson B.H. (Am. J. Med. Genet. A 2004) 3 4 23
  4. Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. (PMID: 23643385) Tran-Viet K.N. … Young T.L. (Am. J. Hum. Genet. 2013) 2 3 4
  5. A structural characterization of human SCO2. (PMID: 17850752) Banci L. … Wang S. (Structure 2007) 3 4

Products for SCO2 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate SCO2
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for SCO2
    • Block miRNA regulation of SCO2 using miScript Target Protectors

    Sources for SCO2 Gene

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