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    SCO2 SCO2 cytochrome c oxidase assembly protein [ Homo sapiens (human) ]

    Gene ID: 9997, updated on 22-May-2013
    Official Symbol
    SCO2provided by HGNC
    Official Full Name
    SCO2 cytochrome c oxidase assembly proteinprovided by HGNC
    Primary source
    HGNC:10604
    See related
    Ensembl:ENSG00000130489; HPRD:05042; MIM:604272; Vega:OTTHUMG00000150251
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCO1L; CEMCOX1
    Summary
    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 asembly 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. [provided by RefSeq, Dec 2009]
    Location :
    22q13.33
    Sequence :
    Chromosome: 22; NC_000022.10 (50961997..50964868, complement)
    See SCO2 in Epigenomics, MapViewer

    Chromosome 22 - NC_000022.10Genomic Context describing neighboring genes Neighboring gene myo-inositol oxygenase Neighboring gene lipase maturation factor 2 Neighboring gene non-SMC condensin II complex, subunit H2 Neighboring gene thymidine phosphorylase Neighboring gene outer dense fiber of sperm tails 3B Neighboring gene kelch domain containing 7B

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629.
    2. Synthesis of cytochrome C oxidase 2: a p53-dependent metabolic regulator that promotes respiratory function and protects glioma and colon cancer cells from hypoxia-induced cell death. Wanka C, et al. Oncogene, 2012 Aug 16. PMID 22120717.
    3. Global identification of modular cullin-RING ligase substrates. Emanuele MJ, et al. Cell, 2011 Oct 14. PMID 21963094.
    4. Mitochondrial DNA deletions cause the biochemical defect observed in Alzheimer's disease. Krishnan KJ, et al. Neurobiol Aging, 2012 Sep. PMID 21925769.
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.

    See all (44) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Analysis of the mtDNA revealed that COX deficiency is caused by high levels of mtDNA deletions which accumulate with age in alzheimer disease.
      Title: Mitochondrial DNA deletions cause the biochemical defect observed in Alzheimer's disease.
    2. wild-type p53 gene silencing reduced the expression of synthesis of cytochrome c oxidase 2 (SCO2), an effector necessary for respiratory chain function
      Title: Synthesis of cytochrome C oxidase 2: a p53-dependent metabolic regulator that promotes respiratory function and protects glioma and colon cancer cells from hypoxia-induced cell death.
    3. These results suggest that p53 can modulate the metabolic pathways via the proteins SCO2 and TIGAR in human breast cancer.
      Title: Regulatory role of p53 in cancer metabolism via SCO2 and TIGAR in human breast cancer.
    4. Results describe the tissue distribution of SCO1 and SCO2 in mouse and human tissues.
      Title: Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    7. Mutations of SCO2 gene should be considered as a possible cause of neurogenic skeletal muscle features (including SMA-like) in infants with encephalomyopathy even in the absence of heart involvement and COX deficit.
      Title: A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.
    8. recombinant fusion L-Sco2 protein was successfully transduced into the mitochondria of primary fibroblasts derived from SCO2/COX deficient patient and facilitated recovery of COX activity
      Title: Intracellular delivery of full length recombinant human mitochondrial L-Sco2 protein into the mitochondria of permanent cell lines and SCO2 deficient patient's primary cells.
    9. observations confirm that mutations in the SCO2 gene are frequently associated with the neurogenic pattern of skeletal muscle involvement accompanied by mitochondrial abnormalities
      Title: Remodelling of skeletal muscle cells in children with SCO2 gene mutation - ultrastructural study.
    10. SCO2 acts upstream of SCO1, and that it is indispensable for CO II synthesis.
      Title: Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
    Submit: New GeneRIF Correction See all (23)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:115317 BioGRID:106848 APP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:115317 BioGRID:107012 ATP6V1E1    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:120726 CDV3    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:114030 CUL3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115317 BioGRID:115541 HRSP12    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:125521 MRPL53    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:110694 MYC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115317 BioGRID:110781 NDUFA7    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:110904 NONO    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:111320 PIN4    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:111475 PPIB    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:115393 PQBP1    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:119307 SBDS    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:112246 SCP2    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:116015 SEPT9    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:112575 SPR    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:121810 SRPRB    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:108354 STOM    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:114003 STX7    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:121767 SUGP1    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:126178 TANGO2    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:112926 THY1    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:112929 TIAL1    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:115732 TIMM44    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:112937 TJP1    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115317 BioGRID:115566 UBE4B    BioGRID  PubMed Co-fractionation 
    BioGRID:115317 BioGRID:113262 VDAC3    BioGRID  PubMed Co-fractionation 

    Markers

    Genotypes

    Homology

    Clone Names

    • MGC125823, MGC125825

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    copper ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    cellular copper ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    copper ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    muscle system process IEA
    Inferred from Electronic Annotation
    more info
    		  
    oxidation-reduction process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    respiratory chain complex IV assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    respiratory electron transport chain IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Preferred Names
    protein SCO2 homolog, mitochondrial
    Names
    protein SCO2 homolog, mitochondrial
    cytochrome oxidase deficient homolog 2
    SCO cytochrome oxidase deficient homolog 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016235.1 RefSeqGene

      Range
      5001..7872
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001169109.1 → NP_001162580.1  protein SCO2 homolog, mitochondrial precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      BM787182, U62317
      Consensus CDS
      CCDS14095.1
      UniProtKB/Swiss-Prot
      O43819
      Related
      ENSP00000444433, ENST00000543927
      Conserved Domains (2) summary
      COG1999
      Location:102 – 260
      Blast Score: 389
      COG1999; Uncharacterized protein SCO1/SenC/PrrC, involved in biogenesis of respiratory and photosynthetic systems [General function prediction only]
      cd02968
      Location:102 – 242
      Blast Score: 450
      SCO; SCO (an acronym for Synthesis of Cytochrome c Oxidase) family; composed of proteins similar to Sco1, a membrane-anchored protein possessing a soluble domain with a TRX fold. Members of this family are required for the proper assembly of cytochrome c ...

    2. NM_001169110.1 → NP_001162581.1  protein SCO2 homolog, mitochondrial precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      BG392981, U62317
      Consensus CDS
      CCDS14095.1
      UniProtKB/Swiss-Prot
      O43819
      Related
      ENSP00000444242, ENST00000535425
      Conserved Domains (2) summary
      COG1999
      Location:102 – 260
      Blast Score: 389
      COG1999; Uncharacterized protein SCO1/SenC/PrrC, involved in biogenesis of respiratory and photosynthetic systems [General function prediction only]
      cd02968
      Location:102 – 242
      Blast Score: 450
      SCO; SCO (an acronym for Synthesis of Cytochrome c Oxidase) family; composed of proteins similar to Sco1, a membrane-anchored protein possessing a soluble domain with a TRX fold. Members of this family are required for the proper assembly of cytochrome c ...

    3. NM_001169111.1 → NP_001162582.1  protein SCO2 homolog, mitochondrial precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      U62317
      Consensus CDS
      CCDS14095.1
      UniProtKB/Swiss-Prot
      O43819
      Related
      ENSP00000252785, OTTHUMP00000196773, ENST00000252785, OTTHUMT00000317091
      Conserved Domains (2) summary
      COG1999
      Location:102 – 260
      Blast Score: 389
      COG1999; Uncharacterized protein SCO1/SenC/PrrC, involved in biogenesis of respiratory and photosynthetic systems [General function prediction only]
      cd02968
      Location:102 – 242
      Blast Score: 450
      SCO; SCO (an acronym for Synthesis of Cytochrome c Oxidase) family; composed of proteins similar to Sco1, a membrane-anchored protein possessing a soluble domain with a TRX fold. Members of this family are required for the proper assembly of cytochrome c ...

    4. NM_005138.2 → NP_005129.2  protein SCO2 homolog, mitochondrial precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AL021683, BC102025, BQ878572, CN409692
      Consensus CDS
      CCDS14095.1
      UniProtKB/Swiss-Prot
      O43819
      Related
      ENSP00000379046, OTTHUMP00000196772, ENST00000395693, OTTHUMT00000317090
      Conserved Domains (2) summary
      COG1999
      Location:102 – 260
      Blast Score: 389
      COG1999; Uncharacterized protein SCO1/SenC/PrrC, involved in biogenesis of respiratory and photosynthetic systems [General function prediction only]
      cd02968
      Location:102 – 242
      Blast Score: 450
      SCO; SCO (an acronym for Synthesis of Cytochrome c Oxidase) family; composed of proteins similar to Sco1, a membrane-anchored protein possessing a soluble domain with a TRX fold. Members of this family are required for the proper assembly of cytochrome c ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000022.10 Reference GRCh37.p10 Primary Assembly

      Range
      50961997..50964868, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000154.1 Alternate HuRef

      Range
      33853015..33855886, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018933.1 Alternate CHM1_1.0

      Range
      34904994..34907865, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01042625.1 (35785..38656) None
    genomic AF177385.1 AAF05313.1
    genomic AMYH01012916.1 (15521..18392) None
    genomic U62317.2 AAB03344.2
    mRNA AL021683.1 CAA16671.1
    mRNA BC102024.1 AAI02025.1
    mRNA BC102025.1 AAI02026.1
    mRNA BG392981.1 None
    mRNA BM787182.1 None
    mRNA BQ878572.1 None
    mRNA CN409692.1 None
    mRNA CR456569.1 CAG30455.1
    other-genetic CU013168.1 CAK54599.1
    other-genetic CU013456.1 CAK54898.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43819.3 GenPept UniProtKB/Swiss-Prot:O43819

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • 3D structures
        3D structure of a gene
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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