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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SCO2 Gene

protein-coding   GIFtS: 61
GCID: GC22M050961

SCO2 Cytochrome C Oxidase Assembly Protein

(Previous names: SCO (cytochrome oxidase deficient, yeast) homolog 2, SCO...)
  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)
About This Section

Aliases
SCO2 Cytochrome C Oxidase Assembly Protein1 2     SCO1L2
SCO (Cytochrome Oxidase Deficient, Yeast) Homolog 21     Cytochrome Oxidase Deficient Homolog 22
SCO Cytochrome Oxidase Deficient Homolog 2 (Yeast)1     Protein SCO2 Homolog, Mitochondrial2
CEMCOX12     SCO Cytochrome Oxidase Deficient Homolog 22
MYP62     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are pyrimidine ribonucleosides degradation. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SCO2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SCO2_HUMAN, O43819 (See protein sequence)
Recommended Name: Protein SCO2 homolog, mitochondrial precursor  
Size: 266 amino acids; 29810 Da
Subcellular location: Mitochondrion
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43819

  • SCO2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SCO2 Protein Expression
    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  

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    Novus Biologicals SCO2 Lysates
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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for SCO2
    Cloud-Clone Corp. Proteins for SCO2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS10545952
    GO:0005743mitochondrial inner membrane IEA--
    GO:0030016myofibril IDA--

    SCO2 for ontologies           About GeneDecksing



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

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

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for SCO2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SCO2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCO2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SCO2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1pyrimidine ribonucleosides degradation
    pyrimidine deoxyribonucleosides degradation0.67


    1 BioSystems Pathway for SCO2
        pyrimidine deoxyribonucleosides degradation



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SCO2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/11 Interacting proteins for SCO2 (O438192, 3 ENSP000002527854) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K3Q997592, 3MINT-48415 I2D: score=2 
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    COX17ENSP000002610704STRING: ENSP00000261070
    MT-CO2ENSP000003548764STRING: ENSP00000354876
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SCO2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about SCO2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    24/481 AceView cDNA sequences (see all 481):

    BM923773 CB305725 BX366117 AI765458 AI247014 BM127080 CD743035 CR602986 
    BX104808 AI268720 BX348084 BM709018 CD368368 BE502258 CA313581 CA392579 
    CR608523 BM725987 CA308094 BQ934956 BE857125 CR604852 BX348024 CD366369 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See SCO2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SCO2

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

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    In Situ
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    (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)
    About This Section

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

    Orthologs for SCO2 gene from 7/13 species (see all 13)    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 80.58(n)1
    81.5(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) 65.41(n)
    61.76(a)
      429671  XM_003640326.1  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) 59.88(n)
    62.9(a)
      606683  NM_001045232.1  NP_001038697.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG88853   -- 51(a)   25B5   --
    worm
    (Caenorhabditis elegans)
    Secernentea C01F1.23   -- 41(a)   II(4299655-4300715)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SCO1(YBR037C)4
    SCO21
    Copper-binding protein of the mitochondrial inner membrane, more4
    Sco2p1
    47.42(n)1
    38.5(a)1
      2(311452-310565)4
    8523121  NP_009580.11  8523254 
     NP_009593.14 


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/70 SNPs in SCO2 are shown (see all 70)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0088744
    Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1)4--see VAR_0088742 E K mis40--------
    VAR_0088754
    Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1)4--see VAR_0088752 S F mis40--------
    rs289375981,2,4
    CCardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1)4 pathogenic134905327(-) CCGAGC/TGGGAC 8 R W mis1 ese30--------
    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--------
    rs743155101,2
    Cpathogenic134905681(-) AGCCCC/TAGGGC 8 Q * stg11Minor allele frequency- T:0.00EU 631
    VAR_0117384
    ----see VAR_0117382 R P mis40--------
    rs2021397611,2
    --34904500(+) GGTTCC/TCCCAG 4 -- ds50010--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604272   
    OMIM disorders: 604377  
    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

  • 17 diseases for SCO2:    About MalaCards
    cardioencephalomyopathy    fatal infantile encephalocardiomyopathy    leigh syndrome with cardiomyopathy    werdnig-hoffmann disease
    lactic acidosis    mitochondrial disorders    muscular atrophy    hypertrophic cardiomyopathy
    spinal muscular atrophy    amyotrophic lateral sclerosis    lateral sclerosis    neuropathy
    multiple sclerosis    hypoxia    gastric cancer    alzheimer's disease
    breast cancer

    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

    PubMed articles for SCO2 gene, integrated from 9 sources (see all 79):
    (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. (2000)
    2. 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. (1999)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. A structural characterization of human SCO2. (PubMed id 17850752)1, 2 Banci L....Wang S. (2007)
    5. Human Sco1 and Sco2 function as copper-binding proteins. (PubMed id 16091356)1, 3 Horng Y.C....Winge D.R. (2005)
    6. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    7. 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. (2004)
    8. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PubMed id 12529303)1, 2 Collins J.E.... Dunham I. (2003)
    9. Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. (PubMed id 11673586)1, 2 Jaksch M.... Freisinger P. (2001)
    10. Human members of the SCO1 gene family: complementation analysis in yeast and intracellular localization. (PubMed id 10218584)1, 3 Paret C....Rodel G. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9997 HGNC: 10604 AceView: ECGF1andSCO2andLOC440836 Ensembl:ENSG00000130489 euGenes: HUgn9997
    ECgene: SCO2 H-InvDB: SCO2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SCO2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCO2

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

    GeneCards and IP:
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