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Aliases for SCO2 Gene

Aliases for SCO2 Gene

  • SCO2, Cytochrome C Oxidase Assembly Protein 2 3 5
  • 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
  • CEMCOX1 3
  • SCO1L 3
  • MYP6 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 Metabolism and TP53 Regulates Metabolic Genes. 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

Enhancers for SCO2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F050523 0.7 ENCODE 22.6 -3.3 -3266 12.1 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SCO2 TYMP ENSG00000272821 SYCE3 ENSG00000272836 ALG12 ZBED4 LMF2 ENSG00000272940 RABL2B
GH22F050537 1.2 FANTOM5 ENCODE 16.3 -13.8 -13823 5.9 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B YY1 SLC30A9 ZNF143 ZNF207 FOS TYMP ODF3B ENSG00000272821 SCO2 LOC105373098 ARSA TRABD TUBGCP6 CHKB HDAC10
GH22F050543 0.4 ENCODE 11.9 -18.7 -18710 3.3 HDAC1 CREB3L1 WRNIP1 SIN3A RAD21 YY1 GLIS2 GATA2 ZNF143 ZNF207 CPT1B TYMP ENSG00000272821 SCO2 SYCE3 CHKB ARSA ODF3B LOC105373098 TUBGCP6
GH22F050183 1.2 FANTOM5 ENCODE 5.2 +340.6 340616 3.9 ATF1 ARID4B DMAP1 ZNF48 ZNF2 YY1 ZNF121 GTF3C2 GLIS2 ZNF143 ALG12 TRABD LOC105373095 SELENOO ZBED4 LOC101928719 ENSG00000273192 ENSG00000272836 LOC100420885 PANX2
GH22F050188 1.1 FANTOM5 ENCODE 4.8 +335.4 335360 5.6 HDGF PKNOX1 ARID4B SIN3A YBX1 ZNF2 ZNF143 ZNF263 MCM3 SP3 TUBGCP6 MAPK12 ALG12 ZBED4 ENSG00000272836 HDAC10 LOC105373095 LOC101928719 MAPK11 PLXNB2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SCO2 on UCSC Golden Path with GeneCards custom track

Promoters for SCO2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001844539 339 2601 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF548 PAF1

Genomic Location for SCO2 Gene

Chromosome:
22
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

Genes around SCO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Interacts with COA6.

    Three dimensional structures from OCA and Proteopedia for SCO2 Gene

neXtProt entry for SCO2 Gene

Post-translational modifications for SCO2 Gene

  • Ubiquitination at Lys 196
  • Modification sites at PhosphoSitePlus

Other Protein References for SCO2 Gene

No data available for DME Specific Peptides for SCO2 Gene

Domains & Families for SCO2 Gene

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 :
  • Contains 1 thioredoxin domain.
  • Belongs to the SCO1/2 family.
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 IEA,NAS 10545952
GO:0005515 protein binding IPI 25959673
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SCO2: view
genes like me logo Genes that share phenotypes with SCO2: view

Human Phenotype Ontology for SCO2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SCO2 Gene

MGI Knock Outs for SCO2:

Animal Model Products

miRNA for SCO2 Gene

miRTarBase miRNAs that target SCO2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SCO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion TAS 10545952
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0030016 myofibril IDA 20864674
genes like me logo Genes that share ontologies with SCO2: view

Pathways & Interactions for SCO2 Gene

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

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:0006825 copper ion transport IEA --
GO:0006878 cellular copper ion homeostasis IEA --
genes like me logo Genes that share ontologies with SCO2: view

No data available for SIGNOR curated interactions for SCO2 Gene

Drugs & Compounds for SCO2 Gene

(2) Drugs for SCO2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma 172

(2) Additional Compounds for SCO2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SCO2: view

Transcripts for SCO2 Gene

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and SAGE 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 (x4.4).

Protein differential expression in normal tissues from HIPED for SCO2 Gene

This gene is overexpressed in Bone (41.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SCO2 Gene



Protein tissue co-expression partners for SCO2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SCO2 Gene:

SCO2

mRNA Expression by UniProt/SwissProt for SCO2 Gene:

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

Primer 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 34 35
  • 98.62 (n)
cow
(Bos Taurus)
Mammalia SCO2 34 35
  • 84.78 (n)
dog
(Canis familiaris)
Mammalia SCO2 34 35
  • 81.13 (n)
mouse
(Mus musculus)
Mammalia Sco2 34 16 35
  • 79.73 (n)
chicken
(Gallus gallus)
Aves SCO2 34
  • 70.16 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497895 34
  • 60.61 (n)
zebrafish
(Danio rerio)
Actinopterygii sco2 35 34
  • 61.63 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1027 34
fruit fly
(Drosophila melanogaster)
Insecta CG8885 36
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea C01F1.2 36
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCO1 35 37
  • 27 (a)
ManyToMany
SCO2 35
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6145 35
  • 33 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1093 34
Species where no ortholog for SCO2 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs145100473 Myopia 6 (MYP6) [MIM:608908], Pathogenic 50,524,071(+) TGCAG(C/T)GAGCC nc-transcript-variant, reference, missense, utr-variant-3-prime
rs28937598 Pathogenic, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1) [MIM:604377] 50,523,901(-) CCGAG(C/T)GGGAC nc-transcript-variant, downstream-variant-500B, reference, missense, utr-variant-3-prime
rs28937868 Pathogenic, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1) [MIM:604377] 50,524,014(-) TCACT(A/G)CCCTG nc-transcript-variant, reference, missense, utr-variant-3-prime
rs74315511 Pathogenic, Myopia 6 (MYP6) [MIM:608908], Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1) [MIM:604377] 50,523,994(-) CAGAC(A/G)AGCTG nc-transcript-variant, reference, missense, utr-variant-3-prime
rs759452074 Leigh syndrome (LS) [MIM:256000], Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1) [MIM:604377] 50,523,835(+) GGAGC(C/T)GGTCA nc-transcript-variant, downstream-variant-500B, reference, missense, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2758852 CNV loss 17122850
nsv1057656 CNV gain 25217958
nsv1160782 CNV deletion 26073780
nsv471224 CNV loss 18288195
nsv589222 CNV gain 21841781
nsv829340 CNV gain 20364138
nsv834238 CNV loss 17160897
nsv834239 CNV loss 17160897
nsv955201 CNV deletion 24416366

Variation tolerance for SCO2 Gene

Residual Variation Intolerance Score: 73.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.48; 28.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCO2 Gene

Human Gene Mutation Database (HGMD)
SCO2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCO2

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

Disorders for SCO2 Gene

MalaCards: The human disease database

(17) MalaCards diseases for SCO2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
myopia 6
  • myopia, susceptibility to
fatal infantile cytochrome c oxidase deficiency
  • fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
fatal infantile encephalocardiomyopathy
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
rare isolated myopia
- elite association - COSMIC cancer census association via MalaCards
Search SCO2 in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:19353847}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:26741492}. Note=The disease may be 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, ECO:0000269 PubMed:25525168}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SCO2

Genetic Association Database (GAD)
SCO2
Human Genome Epidemiology (HuGE) Navigator
SCO2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCO2
genes like me logo Genes that share disorders with SCO2: view

No data available for Genatlas for SCO2 Gene

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 22 46 64
  2. 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 64
  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 22 64
  4. 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 22 64
  5. Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. (PMID: 25525168) Jiang D. … Zhang Q. (Invest. Ophthalmol. Vis. Sci. 2015) 3 4 64

Products for SCO2 Gene

Sources for SCO2 Gene

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