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 pro... See more...

Aliases for SCO2 Gene

Aliases for SCO2 Gene

  • Synthesis Of Cytochrome C Oxidase 2 2 3
  • SCO Cytochrome C Oxidase Assembly Protein 2 2 3 5
  • SCO2, Cytochrome C Oxidase Assembly Protein 2 3
  • Protein SCO2 Homolog, Mitochondrial 3 4
  • SCO (Cytochrome Oxidase Deficient, Yeast) Homolog 2 2
  • SCO Cytochrome Oxidase Deficient Homolog 2 (Yeast) 2
  • Platelet-Derived Endothelial Cell Growth Factor 3
  • SCO Cytochrome Oxidase Deficient Homolog 2 3
  • Thymidine Phosphorylase 3
  • Gliostatin 3
  • Myopia 6 2
  • CEMCOX1 3
  • PD-ECGF 3
  • TdRPase 3
  • ECGF1 3
  • SCO1L 3
  • TYMP 3
  • MYP6 3
  • TP 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 (Synthesis Of Cytochrome C Oxidase 2) is a Protein Coding gene. Diseases associated with SCO2 include Myopia 6 and Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 1. Among its related pathways are Gene Expression and Central carbon metabolism in cancer. Gene Ontology (GO) annotations related to this gene include copper ion binding. An important paralog of this gene is SCO1.

UniProtKB/Swiss-Prot Summary for SCO2 Gene

  • Copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Involved in transporting copper to the Cu(A) site on MT-CO2/COX2 (PubMed:15229189, PubMed:17189203). Also acts as a thiol-disulfide oxidoreductase to regulate the redox state of the cysteines in SCO1 during maturation of MT-CO2/COX2 (PubMed:19336478).

Gene Wiki entry for SCO2 Gene

Additional gene information for SCO2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SCO2 Gene

Genomics for SCO2 Gene

GeneHancer (GH) Regulatory Elements for SCO2 Gene

Promoters and enhancers for SCO2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SCO2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SCO2

Top Transcription factor binding sites by QIAGEN in the SCO2 gene promoter:
  • Arnt
  • HTF
  • Pax-4a
  • PPAR-gamma1
  • PPAR-gamma2
  • Sp1

Genomic Locations for SCO2 Gene

Genomic Locations for SCO2 Gene
chr22:50,523,568-50,526,461
(GRCh38/hg38)
Size:
2,894 bases
Orientation:
Minus strand
chr22:50,961,997-50,964,868
(GRCh37/hg19)
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:
    • Homodimer (PubMed:15229189). Interacts with COA6 (PubMed:25959673). Found in a complex with TMEM177, COX20, COA6, MT-CO2/COX2, COX18 and SCO1 (PubMed:29154948). Interacts with TMEM177 in a COX20-dependent manner (PubMed:29154948). Interacts with COX20 in a MT-CO2/COX2- and COX18-dependent manner (PubMed:29154948, PubMed:24403053, PubMed:28330871). Interacts with COX16 (PubMed:29381136).

    Three dimensional structures from OCA and Proteopedia for SCO2 Gene

neXtProt entry for SCO2 Gene

Post-translational modifications for SCO2 Gene

  • Ubiquitination at Lys196
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SCO2 Gene

Domains & Families for SCO2 Gene

Gene Families for SCO2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins
  • Predicted intracellular proteins

Protein Domains for SCO2 Gene

Blocks:
  • Electron transport protein SCO1/SenC
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SCO2 Gene

GenScript: Design optimal peptide antigens:
  • Protein SCO2 homolog, mitochondrial (SCO2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43819

UniProtKB/Swiss-Prot:

SCO2_HUMAN :
  • Belongs to the SCO1/2 family.
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

UniProtKB/Swiss-Prot Function:
Copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Involved in transporting copper to the Cu(A) site on MT-CO2/COX2 (PubMed:15229189, PubMed:17189203). Also acts as a thiol-disulfide oxidoreductase to regulate the redox state of the cysteines in SCO1 during maturation of MT-CO2/COX2 (PubMed:19336478).
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

Phenotypes From GWAS Catalog for SCO2 Gene

Gene Ontology (GO) - Molecular Function for SCO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004645 phosphorylase activity IEA --
GO:0005507 copper ion binding IEA,NAS 10545952
GO:0005515 protein binding IPI 24403053
GO:0015035 protein disulfide oxidoreductase activity IDA 19336478
GO:0016763 transferase activity, transferring pentosyl groups 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:
  • Sco2 Sco2<tm1.1Easc>

Animal Model Products

CRISPR Products

miRNA for SCO2 Gene

miRTarBase miRNAs that target SCO2

Clone 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 inner membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SCO2 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 3
plasma membrane 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SCO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005739 mitochondrion TAS 10545952
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
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 IMP --
GO:0003012 muscle system process IMP --
GO:0006206 pyrimidine nucleobase metabolic process IEA --
GO:0006213 pyrimidine nucleoside metabolic process 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, Investigational Pharma 236

(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

mRNA/cDNA for SCO2 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

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, MaxQB, and MOPED for SCO2 Gene



Protein tissue co-expression partners for SCO2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SCO2

mRNA Expression by UniProt/SwissProt for SCO2 Gene:

O43819-SCO2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for SCO2 Gene

  • Blood(4.4)
  • Muscle(2.3)
  • Heart(2)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SCO2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • liver
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SCO2: view

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 30
  • 98.62 (n)
cow
(Bos Taurus)
Mammalia SCO2 30
  • 84.78 (n)
dog
(Canis familiaris)
Mammalia SCO2 30
  • 81.13 (n)
mouse
(Mus musculus)
Mammalia Sco2 17 30
  • 79.73 (n)
chicken
(Gallus gallus)
Aves SCO2 30
  • 70.16 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497895 30
  • 60.61 (n)
zebrafish
(Danio rerio)
Actinopterygii sco2 30
  • 61.63 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1027 30
fruit fly
(Drosophila melanogaster)
Insecta CG8885 32
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea C01F1.2 32
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCO1 33
sea squirt
(Ciona savignyi)
Ascidiacea Cin.1093 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1093 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for SCO2: view image

Paralogs for SCO2 Gene

Paralogs for SCO2 Gene

(1) SIMAP similar genes for SCO2 Gene using alignment to 2 proteins:

  • SCO2_HUMAN
  • C9JBU1_HUMAN
genes like me logo Genes that share paralogs with SCO2: view

Variants for SCO2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SCO2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
658290 Likely Pathogenic: not provided 50,526,364(-) C/CA FRAMESHIFT_VARIANT,FIVE_PRIME_UTR_VARIANT
666945 Uncertain Significance: not specified 50,525,857(-) GGCGCGGCTCTGCGGG FRAMESHIFT_VARIANT,INTRON_VARIANT
669173 Likely Benign: not provided 50,526,035(-) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
673707 Benign: not provided 50,526,189(-) C/T INTRON_VARIANT
694442 Likely Pathogenic: Mitochondrial DNA depletion syndrome 1 (MNGIE type) 50,526,404(-) A/C MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for SCO2 Gene

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)

Additional Variant Information for SCO2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SCO2 Gene

MalaCards: The human disease database

(26) MalaCards diseases for SCO2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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:17189203, ECO:0000269 PubMed:19336478, ECO:0000269 PubMed:19353847, ECO:0000269 PubMed:25959673}. 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, ECO:0000269 PubMed:25525168, ECO:0000269 PubMed:25959673}. 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.

Additional Disease Information for SCO2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 EA (Human molecular genetics 2000) 3 4 23 41 54
  2. Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. (PMID: 23643385) Tran-Viet KN … Young TL (American journal of human genetics 2013) 2 3 4 54
  3. Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1. (PMID: 19336478) Leary SC … Shoubridge EA (Human molecular genetics 2009) 3 4 23 54
  4. The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. (PMID: 17189203) Leary SC … Shoubridge EA (Cell metabolism 2007) 3 4 23 54
  5. Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. (PMID: 14994243) Tarnopolsky MA … Robinson BH (American journal of medical genetics. Part A 2004) 3 4 23 54

Products for SCO2 Gene

Sources for SCO2 Gene