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SCO2 Gene

protein-coding   GIFtS: 62
GCID: GC22M050961

SCO2 Cytochrome C Oxidase Assembly Protein

(Previous names: SCO (cytochrome oxidase deficient, yeast) homolog 2, SCO...)
(Previous symbol: MYP6)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SCO2 Cytochrome C Oxidase Assembly Protein1 2     SCO Cytochrome Oxidase Deficient Homolog 2 (Yeast)1
MYP61 2 5     SCO1L2
Myopia 61 2     Cytochrome Oxidase Deficient Homolog 22
CEMCOX12 5     Protein SCO2 Homolog, Mitochondrial2
SCO (Cytochrome Oxidase Deficient, Yeast) Homolog 21     SCO Cytochrome Oxidase Deficient Homolog 22

External Ids:    HGNC: 106041   Entrez Gene: 99972   Ensembl: ENSG000001304897   OMIM: 6042725   UniProtKB: O438193   

Export aliases for SCO2 gene to outside databases

Previous GC identifers: GC22M047466 GC22M049094 GC22M049252 GC22M049308 GC22M033853


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 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)

GeneCards Summary for SCO2 Gene:
SCO2 (SCO2 cytochrome c oxidase assembly protein) is a protein-coding gene. Diseases associated with SCO2 include cardioencephalomyopathy, and fatal infantile encephalocardiomyopathy. GO annotations related to this gene include copper ion binding. An important paralog of this gene is SCO1.

UniProtKB/Swiss-Prot: SCO2_HUMAN, O43819
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the SCO2 gene promoter:
         PPAR-gamma1   Sp1   HTF   PPAR-gamma2   Pax-4a   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSCO2 promoter sequence
   Search Chromatin IP Primers for SCO2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SCO2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.33   Ensembl cytogenetic band:  22q13.33   HGNC cytogenetic band: 22q13.33

SCO2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCO2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M050961:  view genomic region     (about GC identifiers)

Start:
50,961,997 bp from pter      End:
50,964,868 bp from pter
Size:
2,872 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SCO2_HUMAN, O43819 (See protein sequence)
Recommended Name: Protein SCO2 homolog, mitochondrial precursor  
Size: 266 amino acids; 29810 Da
1 PDB 3D structure from and Proteopedia for SCO2:
2RLI (3D)    
Secondary accessions: Q3T1B5 Q9UK87

Explore the universe of human proteins at neXtProt for SCO2: NX_O43819

Explore proteomics data for SCO2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys196
  • Modification sites at PhosphoSitePlus

  • See SCO2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001162580.1  NP_001162581.1  NP_001162582.1  NP_005129.2  

    ENSEMBL proteins: 
     ENSP00000379046   ENSP00000252785   ENSP00000415642   ENSP00000403570   ENSP00000444433  
     ENSP00000444242  

    SCO2 Human Recombinant Protein Products:

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    ProSpec Recombinant Protein for SCO2
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    Cloud-Clone Corp. CLIAs for SCO2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MITOAF: Mitochondrial respiratory chain complex assembly factors

    3 InterPro protein domains:
     IPR012336 Thioredoxin-like_fold
     IPR003782 SCO1/SenC
     IPR017276 Synth_of_cyt-c-oxidase_Sco1/2

    Graphical View of Domain Structure for InterPro Entry O43819

    ProtoNet protein and cluster: O43819

    1 Blocks protein domain: IPB003782 Electron transport protein SCO1/SenC

    UniProtKB/Swiss-Prot: SCO2_HUMAN, O43819
    Similarity: Belongs to the SCO1/2 family
    Similarity: Contains 1 thioredoxin domain


    SCO2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SCO2_HUMAN, O43819
    Function: Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II
    (COX2)

         Genatlas biochemistry entry for SCO2:
    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

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005507copper ion binding NAS10545952
         
    SCO2 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sco2):
     behavior/neurological  cellular  embryogenesis  homeostasis/metabolism  liver/biliary system 
     mortality/aging  muscle 

    SCO2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sco2tm1.1Easc for SCO2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SCO2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SCO2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SCO2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SCO2

    miRNA
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    miRTarBase miRNAs that target SCO2:
    hsa-mir-26b-5p (MIRT029944)

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    Sino Biological Human cDNA Clone for SCO2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCO2

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCO2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SCO2_HUMAN, O43819: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion TAS10545952
    GO:0005743mitochondrial inner membrane IEA--
    GO:0030016myofibril IDA--

    SCO2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SCO2 About    
    See pathways by source

    SuperPathContained pathways About
    1superpathway of pyrimidine ribonucleosides degradation
    pyrimidine deoxyribonucleosides degradation0.33


    1 BioSystems Pathway for SCO2
        pyrimidine deoxyribonucleosides degradation



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SCO2
    Interactions:

        GeneGlobe Interaction Network for SCO2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for SCO2 (O438192, 3 ENSP000002527854) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K3Q997592, 3MINT-48415 I2D: score=2 
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    COX17ENSP000002610704STRING: ENSP00000261070
    MT-CO2ENSP000003548764STRING: ENSP00000354876
    COA6ENSP000003555724STRING: ENSP00000355572
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001654eye development IMP--
    GO:0001701in utero embryonic development IEA--
    GO:0003012muscle system process IEA--
    GO:0006825copper ion transport IEA--
    GO:0006878cellular copper ion homeostasis IEA--

    SCO2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SCO2

    1 HMDB Compound for SCO2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CopperCu (see all 2)7440-50-8--

    4 Novoseek inferred chemical compound relationships for SCO2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    copper histidine 85 2 14759282 (1), 11751685 (1)
    copper 61.9 18 17189203 (2), 10749987 (2), 15659396 (2), 14972329 (1) (see all 12)
    oxygen 0 1 16728594 (1)
    superoxide 0 1 15239669 (1)



    SCO2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SCO2 gene (4 alternative transcripts): 
    NM_001169109.1  NM_001169110.1  NM_001169111.1  NM_005138.2  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000395693(uc003blz.4) ENST00000252785(uc003bma.3) ENST00000439934
    ENST00000423348 ENST00000543927(uc021wsa.1) ENST00000535425(uc021wrz.1)

    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SCO2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCO2
    Primer
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    OriGene qPCR primer pairs and template standards for SCO2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat SCO2
      QuantiTect SYBR Green Assays in human, mouse, rat SCO2
      QuantiFast Probe-based Assays in human, mouse, rat SCO2

    Selected AceView cDNA sequences (see all 481):

    AW014906 BU734727 BU730919 CR610417 CR603653 BM919986 BM893839 BI962661 
    BQ225451 CR610293 NM_001953 BF514999 BM126814 BM837138 CB152453 BX348084 
    BQ447931 CR623877 BX104808 BE857125 CB305725 BG330140 CA309026 BM709018 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SCO2    About this scheme

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


    ECgene alternative splicing isoforms for SCO2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SCO2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SCO2 Expression
    About this image


    SCO2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)
             Retina
     
     Liver (Hepatobiliary System)
    SCO2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCO2 Protein Expression

    UniProtKB/Swiss-Prot: SCO2_HUMAN, O43819
    Tissue specificity: Ubiquitous

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCO2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SCO2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sco21 , 5 SCO cytochrome oxidase deficient homolog 2 (yeast)1, 5 79.73(n)1
    81.6(a)1
      15 (44.85 cM)5
    1001268241  NM_001111288.11  NP_001104758.11 
     893716395 
    chicken
    (Gallus gallus)
    Aves SCO21 SCO cytochrome oxidase deficient homolog 2 (yeast) 70.16(n)
    67.54(a)
      429671  XM_003640326.2  XP_003640374.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia BU916872.12   -- 75.53(n)    BU916872.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sco21 SCO cytochrome oxidase deficient homolog 2 (yeast) 61.63(n)
    65.85(a)
      606683  NM_001045232.1  NP_001038697.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SCO1(YBR037C)4 Copper-binding protein of the mitochondrial inner membrane, more   --   2(311452-310565) 852325  NP_009593.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SCO2 gene
    SCO12  
    1 SIMAP similar gene for SCO2 using alignment to 2 protein entries:     SCO2_HUMAN (see all proteins):
    SCO1

    SCO2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SCO2 (see all 73)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs81393051,2,,4
    C,F,A,HMyopia 6 (MYP6)4 --34905062(+) AAGCCG/ACCATG 8 /A /V mis116Minor allele frequency- A:0.01NS EA NA WA 6136
    rs289375981,2,,4
    CCardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1)4 pathogenic134905327(-) CCGAGC/TGGGAC 8 R W mis1 ese30--------
    VAR_0088744
    Myopia 6 (MYP6)4--see VAR_0088742 E K mis40--------
    VAR_0700544
    Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1)4--see VAR_0700542 C Y mis40--------
    VAR_0088754
    Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1)4--see VAR_0088752 S F mis40--------
    VAR_0700534
    Myopia 6 (MYP6)4--see VAR_0700532 R H mis40--------
    rs803582321,2
    Cpathogenic134905164(-) CCACTC/TCATTG 8 S F mis10--------
    rs743155111,2
    Cpathogenic134905420(-) CAGACG/AAGCTG 8 /K /E mis11Minor allele frequency- A:0.00EU 1311
    rs289378681,2
    Cpathogenic134905440(-) TCACTA/GCCCTG 8 Y C mis1 ese30--------
    rs743155121,2
    Cpathogenic134905570(-) AAAAGC/TGAACA 8 R * stg10--------

    HapMap Linkage Disequilibrium report for SCO2 (50961997 - 50964868 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SCO2 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv915495CNV Loss21882294
    dgv5065n71CNV Loss21882294
    nsv834238CNV Loss17160897
    dgv5064n71CNV Loss21882294
    nsv834239CNV Loss17160897
    dgv5066n71CNV Loss21882294
    nsv471224CNV Loss18288195
    dgv5067n71CNV Loss21882294
    nsv914556CNV Loss21882294
    dgv5062n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): SCO2
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SCO2
    DNA2.0 Custom Variant and Variant Library Synthesis for SCO2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604272   
    OMIM disorders: 604377  608908  
    UniProtKB/Swiss-Prot: SCO2_HUMAN, O43819
  • 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. 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for SCO2 (see all 22):    
    About MalaCards
    cardioencephalomyopathy    fatal infantile encephalocardiomyopathy    cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1    leigh syndrome with cardiomyopathy
    werdnig-hoffmann disease    myopia 6    myopia, high, with cataract and vitreoretinal degeneration    mitochondrial disorders
    muscular atrophy    lactic acidosis    spinal muscular atrophy    hypertrophic cardiomyopathy
    lateral sclerosis    amyotrophic lateral sclerosis    myopia    hypoxia
    multiple sclerosis    neuropathy    alzheimer's disease    multiple myeloma

    2 diseases from the University of Copenhagen DISEASES database for SCO2:
    Leigh disease     Hypertrophic cardiomyopathy

    SCO2 for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for SCO2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cytochrome c oxidase deficiency 94 7 15499950 (1), 12020273 (1), 11751685 (1), 20159436 (1) (see all 6)
    leigh syndrome 88.1 7 11579424 (1), 10545952 (1), 12538779 (1), 10805329 (1) (see all 5)
    mitochondrial diseases 77.9 3 14759282 (1), 10749987 (1), 15659396 (1)
    werdnig-hoffmann disease 69.1 3 12020273 (2), 14994243 (1)
    muscular atrophy spinal 62 4 12020273 (2), 18332255 (1), 19879173 (1)
    acidosis lactic 61.3 2 19353431 (1), 19879173 (1)
    encephalopathy 60.9 5 19879173 (1), 11579424 (1), 15210538 (1), 10749987 (1) (see all 5)
    cardiomyopathy 56.3 4 19353431 (1), 19879173 (1), 16765077 (1), 16326995 (1)
    tumors 5.63 1 16843260 (1)
    cancer 0 2 16728594 (2)

    Genetic Association Database (GAD): SCO2
    Human Genome Epidemiology (HuGE) Navigator: SCO2 (3 documents)

    Export disorders for SCO2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for SCO2 gene, integrated from 10 sources (see all 83):
    (articles sorted by number of sources associating them with SCO2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. (PubMed id 10749987)1, 2, 4, 9 Jaksch M.... Shoubridge E.A. (Hum. Mol. Genet. 2000)
    2. Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. (PubMed id 23643385)1, 2, 3 Tran-Viet K.N....Young T.L. (Am. J. Hum. Genet. 2013)
    3. Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. (PubMed id 14994243)1, 2, 9 Tarnopolsky M.A....Robinson B.H. (Am. J. Med. Genet. A 2004)
    4. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. (PubMed id 10545952)1, 2, 9 Papadopoulou L.C.... Schon E.A. (Nat. Genet. 1999)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. A structural characterization of human SCO2. (PubMed id 17850752)1, 2 Banci L.... Wang S. (Structure 2007)
    7. Human Sco1 and Sco2 function as copper-binding proteins. (PubMed id 16091356)1, 3 Horng Y.C....Winge D.R. (J. Biol. Chem. 2005)
    8. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PubMed id 12529303)1, 2 Collins J.E.... Dunham I. (Genome Res. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9997 HGNC: 10604 AceView: ECGF1andSCO2andLOC440836 Ensembl:ENSG00000130489 euGenes: HUgn9997
    ECgene: SCO2 H-InvDB: SCO2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SCO2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SCO2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SCO2 gene:
    Search GeneIP for patents involving SCO2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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