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SKI Gene

protein-coding   GIFtS: 65
GCID: GC01P002173

V-Ski Avian Sarcoma Viral Oncogene Homolog

  See SKI-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
V-Ski Avian Sarcoma Viral Oncogene Homolog1 2
Proto-Oncogene C-Ski2 3
SGS2 5
SKV2
Ski Oncogene2
Ski Oncoprotein2

External Ids:    HGNC: 108961   Entrez Gene: 64972   Ensembl: ENSG000001579337   OMIM: 1647805   UniProtKB: P127553   

Export aliases for SKI gene to outside databases

Previous GC identifers: GC01P001715 GC01P9M0086 GC01P001435


(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 SKI Gene:
This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions
as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation.
(provided by RefSeq, Oct 2009)

GeneCards Summary for SKI Gene:
SKI (v-ski avian sarcoma viral oncogene homolog) is a protein-coding gene. Diseases associated with SKI include shprintzen-goldberg syndrome, and goldberg-shprintzen megacolon syndrome. GO annotations related to this gene include chromatin binding and protein kinase binding. An important paralog of this gene is SKOR2.

UniProtKB/Swiss-Prot: SKI_HUMAN, P12755
Function: May play a role in terminal differentiation of skeletal muscle cells but not in the determination of
cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling

Gene Wiki entry for SKI (SKI protein) 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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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SKI gene promoter:
         AML1a   LUN-1   MIF-1   AP-2gamma   c-Ets-1   E47   GATA-1   HSF2   c-Myb   Hand1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SKI promoter sequence
   Search Chromatin IP Primers for SKI

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


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

Entrez Gene cytogenetic band: 1p36.33   Ensembl cytogenetic band:  1p36.33   HGNC cytogenetic band: 1p36.33

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P002173:  view genomic region     (about GC identifiers)

Start:
2,160,134 bp from pter      End:
2,241,652 bp from pter
Size:
81,519 bases      Orientation:
plus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SKI_HUMAN, P12755 (See protein sequence)
Recommended Name: Ski oncogene  
Size: 728 amino acids; 80005 Da
Subunit: Interacts with SMAD2, SMAD3 and SMAD4. Interacts with HIPK2. Part of a complex with HIPK2 and SMAD1/2/3.
Interacts with PRDM16 and SMAD3; the interaction with PRDM16 promotes the recruitment SMAD3-HDAC1 complex on the
promoter of TGF-beta target genes
2 PDB 3D structures from and Proteopedia for SKI:
1MR1 (3D)        1SBX (3D)    
Secondary accessions: Q5SYT7

Explore the universe of human proteins at neXtProt for SKI: NX_P12755

Explore proteomics data for SKI at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_003027.1  
    ENSEMBL proteins: 
     ENSP00000367797  
    Reactome Protein details: P12755

    SKI Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for SKI
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    OriGene Custom Protein Services for SKI
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    Novus Biologicals SKI Protein
    Novus Biologicals SKI Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SKI

     
    Search eBioscience for Proteins for SKI 

     
    antibodies-online proteins for SKI (3 products) 

     
    antibodies-online peptides for SKI

    SKI Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SKI
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    Novus Biologicals SKI Antibodies
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    Cloud-Clone Corp. Antibodies for SKI
    ThermoFisher Antibodies for SKI
    antibodies-online antibodies for SKI (29 products) 

    SKI Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SKI
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SKI
    Cloud-Clone Corp. CLIAs for SKI
    Search eBioscience for ELISAs for SKI 
    antibodies-online kits for SKI (7 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SKOR: SKI transcriptional corepressors

    Selected InterPro protein domains (see all 6):
     IPR009061 DNA-bd_dom_put
     IPR028760 Ski
     IPR023216 Tscrpt_reg_SKI_SnoN
     IPR010919 SAND_dom-like
     IPR003380 Transform_Ski

    Graphical View of Domain Structure for InterPro Entry P12755

    ProtoNet protein and cluster: P12755

    3 Blocks protein domains:
    IPB000770 SAND domain
    IPB003380 Transforming protein Ski
    IPB010919 SAND-like


    UniProtKB/Swiss-Prot: SKI_HUMAN, P12755
    Similarity: Belongs to the SKI family


    Find genes that share domains with SKI           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SKI_HUMAN, P12755
    Function: May play a role in terminal differentiation of skeletal muscle cells but not in the determination of
    cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling

         Genatlas biochemistry entry for SKI:
    avian sarcoma viral (v-ski) oncogene homolog

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003682chromatin binding IEA--
    GO:0003714transcription corepressor activity IMP12435627
    GO:0005515protein binding IPI10049357
    GO:0008270zinc ion binding IDA12419246
         
    Find genes that share ontologies with SKI           About GenesLikeMe


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ski):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size/body 
     homeostasis/metabolism  limbs/digits/tail  mortality/aging  muscle  nervous system 
     skeleton  tumorigenesis  vision/eye 

    Find genes that share phenotypes with SKI           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Skitm1Cco for SKI

       genOway: Develop your customized and physiologically relevant rodent model for SKI

    miRNA
    Products:
        
    miRTarBase miRNAs that target SKI:
    hsa-mir-484 (MIRT041820), hsa-mir-92b-3p (MIRT040552), hsa-mir-196a-5p (MIRT048269), hsa-mir-155-5p (MIRT005885), hsa-mir-149-5p (MIRT045579), hsa-let-7b-5p (MIRT052009), hsa-mir-590-3p (MIRT016163), hsa-mir-99a-5p (MIRT027396), hsa-mir-221-3p (MIRT046951), hsa-mir-92a-3p (MIRT049101), hsa-mir-744-5p (MIRT037455), hsa-mir-195-5p (MIRT004390), hsa-mir-340-5p (MIRT019622)

    Block miRNA regulation of human, mouse, rat SKI using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SKI (see all 110):
    hsa-miR-323-3p hsa-miR-549 hsa-miR-100* hsa-miR-3938 hsa-miR-15a hsa-miR-106a hsa-miR-374a hsa-miR-578
    SwitchGear 3'UTR luciferase reporter plasmidSKI 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SKI
    Predesigned siRNA for gene silencing in human, mouse, rat SKI

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SKI

    Clone
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    OriGene clones in human, mouse for SKI (see all 7)
    OriGene ORF clones in mouse, rat for SKI
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SKI (NM_003036)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SKI
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SKI
    Addgene plasmids for SKI 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SKI 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SKI


    (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
    SKI_HUMAN, P12755: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17054724
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex ISS--
    GO:0005737cytoplasm ISS--
    GO:0005813centrosome IDA--

    Find genes that share ontologies with SKI           About GenesLikeMe


    (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 SKI About   (see all 14)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Signaling by BMP
    Signaling by BMP0.35
    BMP Signalling Pathway0.00
    BMP receptor signaling0.31
    2Loss of Function of SMAD2/3 in Cancer
    Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer0.72
    TGFBR1 KD Mutants in Cancer0.60
    Loss of Function of SMAD2/3 in Cancer0.60
    SMAD2/3 MH2 Domain Mutants in Cancer0.60
    Loss of Function of SMAD4 in Cancer0.60
    SMAD2/3 Phosphorylation Motif Mutants in Cancer0.60
    TGFBR2 MSI Frameshift Mutants in Cancer0.60
    SMAD4 MH2 Domain Mutants in Cancer0.60
    3Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    4TGF-Beta Pathway
    TGF-Beta Pathway0.60
    5Signaling by GPCR
    Signal Transduction0.58


    Find genes that share SuperPaths with SKI           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SKI
        SMAD Signaling Network
    TGF-Beta Pathway

    2 GeneGo (Thomson Reuters) Pathways for SKI
        Signal transduction Activin A signaling regulation
    Development TGF-beta receptor signaling

    Selected BioSystems Pathways for SKI (see all 7)
        TGF Beta Signaling Pathway
    Hedgehog Signaling Pathway
    TGF-beta Receptor Signaling Pathway
    BMP Signalling Pathway
    BMP receptor signaling

    2 Reactome Pathways for SKI
        Downregulation of SMAD2/3:SMAD4 transcriptional activity
    Signaling by BMP


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

        GeneGlobe Interaction Network for SKI

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SKI (P127551, 2, 3 ENSP000003677974) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840221, 2, 3, ENSP000003329734EBI-347281,EBI-347161 MINT-16378 MINT-17964 MINT-16379 I2D: score=6 STRING: ENSP00000332973
    SMAD4Q134851, 2, 3, ENSP000003415514EBI-347281,EBI-347263 MINT-61954 I2D: score=6 STRING: ENSP00000341551
    SIN3AQ96ST31, 3, ENSP000003536224EBI-347281,EBI-347218 I2D: score=3 STRING: ENSP00000353622
    NCOR1O753761, 3, ENSP000002687124EBI-347281,EBI-347233 I2D: score=3 STRING: ENSP00000268712
    SMAD2Q157963, ENSP000002621604I2D: score=5 STRING: ENSP00000262160
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 38):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter TAS--
    GO:0001843neural tube closure ISS--
    GO:0002089lens morphogenesis in camera-type eye ISS--
    GO:0006351transcription, DNA-templated TAS--
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--

    Find genes that share ontologies with SKI           About GenesLikeMe



    (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 SKI

    3 Novoseek inferred chemical compound relationships for SKI gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tgf beta1 37 1 16871886 (1)
    leucine 23.6 2 7929440 (1), 9927733 (1)
    vitamin d 0 1 15225769 (1)



    Find genes that share compounds with SKI           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SKI gene: 
    NM_003036.3  

    Unigene Cluster for SKI:

    V-ski sarcoma viral oncogene homolog (avian)
    Hs.656507  [show with all ESTs]
    Unigene Representative Sequence: NM_003036
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378536(uc001aja.4) ENST00000508416 ENST00000478223 ENST00000507179

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SKI using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SKI (see all 110):
    hsa-miR-323-3p hsa-miR-549 hsa-miR-100* hsa-miR-3938 hsa-miR-15a hsa-miR-106a hsa-miR-374a hsa-miR-578
    SwitchGear 3'UTR luciferase reporter plasmidSKI 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SKI
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SKI (NM_003036)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SKI
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SKI
    Addgene plasmids for SKI 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SKI
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SKI
      QuantiTect SYBR Green Assays in human, mouse, rat SKI
      QuantiFast Probe-based Assays in human, mouse, rat SKI

    Additional mRNA sequence: 

    AK309515.1 X15218.1 

    6 DOTS entries:

    DT.445410  DT.100750103  DT.121455724  DT.121455848  DT.121455772  DT.95333060 

    Selected AceView cDNA sequences (see all 121):

    BM760913 BQ888578 NM_003036 AI378676 AL134997 CD672209 AI469036 Z38298 
    AI282809 CK821024 BU189280 AI751723 BU182699 BE882804 X15218 BM555193 
    CD672208 AU184930 AW007133 BF109460 BF924336 AI291792 BM702524 AI925357 

    GeneLoc Exon Structure

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

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b
    SP1:        -                                                         
    SP2:                                                                  
    SP3:                                                                  


    ECgene alternative splicing isoforms for SKI

    (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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    SKI expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACCCCCTC
    SKI Expression
    About this image

    SKI Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SKI Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656507
        Custom PCR Arrays for SKI
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SKI
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SKI
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    QuantiFast Probe-based Assays in human, mouse, rat SKI
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SKI

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for SKI gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ski1 , 5 ski sarcoma viral oncogene homolog (avian)1, 5 88.81(n)1
    93.4(a)1
      4 (86.17 cM)5
    204811  NM_011385.21  NP_035515.21 
     1551540755 
    chicken
    (Gallus gallus)
    Aves SKI1 v-ski sarcoma viral oncogene homolog 75.38(n)
    82.67(a)
      428181  NM_001039318.1  NP_001034407.1 
    lizard
    (Anolis carolinensis)
    Reptilia SKI6
    v-ski avian sarcoma viral oncogene homolog
    80(a)
    1 ↔ 1
    GL344417.1(2093-2614)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.1022 Xenopus laevis Ski2 (Ski) mRNA, complete cds 79.23(n)    U89999.1 
    zebrafish
    (Danio rerio)
    Actinopterygii skia2 nuclear oncoprotein skia 80.2(n)   30101  NM_130935.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG72333   -- 48(a)   28D3   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for SKI gene
    SKOR22  SKIL2  SKOR12  
    3 SIMAP similar genes for SKI using alignment to 4 protein entries:     SKI_HUMAN (see all proteins):
    SKIL    SKOR1    SKOR2

    Find genes that share paralogs with SKI           About GenesLikeMe



    (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 SKI (see all 2015)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1925935941,2
    --2158763(+) GGCCAC/TGGCGC 1 -- us2k10--------
    rs2000193521,2
    C--2160304(+) CTGGGC/GGGCCC 2 G syn10--------
    rs1867539451,2
    --2161227(+) GGGCCC/TCTTCT 1 -- int10--------
    rs37659301,2
    C,F--2161490(+) GGCCTC/TATGCT 1 -- int18Minor allele frequency- T:0.12EA NA WA CSA 1656
    rs1449637701,2
    --2161497(+) TGCTCC/TCGAGA 1 -- int10--------
    rs1916408611,2
    --2161576(+) TCTTTC/TTTGGG 1 -- int10--------
    rs750963121,2
    F--2161638(+) GGAGGG/CCTGCC 1 -- int11Minor allele frequency- C:0.03EA 120
    rs1840213701,2
    --2161702(+) ACTGGC/TTCCCG 1 -- int10--------
    rs1152439061,2
    F--2161842(+) GGGACC/TAAATC 1 -- int11Minor allele frequency- T:0.01NA 120
    rs756141421,2
    F--2161884(+) TGGCAC/GCCGGC 1 -- int11Minor allele frequency- G:0.04WA 118

    HapMap Linkage Disequilibrium report for SKI (2160134 - 2241652 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SKI (see all 39):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1252402CNV Deletion17803354
    esv1164473CNV Deletion17803354
    esv2718250CNV Deletion23290073
    esv1682069CNV Deletion17803354
    esv1025209CNV Deletion17803354
    esv2673961CNV Deletion23128226
    esv2718139CNV Deletion23290073
    esv1536883CNV Deletion17803354
    nsv4742CNV Insertion18451855
    nsv834668CNV Loss17160897

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

    (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.)
    About This Section

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    OMIM gene information: 164780   
    OMIM disorders: 182212  
    6 diseases for SKI:    
    About MalaCards
    shprintzen-goldberg syndrome    goldberg-shprintzen megacolon syndrome    1p36 deletion syndrome    opisthorchiasis
    anophthalmia/microphthalmia    sarcoma

    1 disease from the University of Copenhagen DISEASES database for SKI:
    Opisthorchiasis

    Find genes that share disorders with SKI           About GenesLikeMe

    8 Novoseek inferred disease relationships for SKI gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemogenesis 43.4 2 17621263 (1)
    metastatic melanoma 34.5 3 12793438 (1), 15986136 (1), 11719430 (1)
    tumors 25.8 51 19845874 (7), 19546161 (3), 19594546 (3), 18451154 (3) (see all 20)
    melanoma 25.3 37 14583455 (6), 18782659 (5), 19845874 (5), 11719430 (4) (see all 6)
    pancreatic cancer 17.6 6 19546161 (3), 17592292 (3)
    cancer 17.2 10 18451154 (2), 10485843 (1), 19114989 (1), 19959502 (1) (see all 7)
    leukemia 0 2 15542823 (1), 17621263 (1)
    carcinoma 0 1 19096149 (1)

    Genetic Association Database (GAD): SKI
    Human Genome Epidemiology (HuGE) Navigator: SKI (8 documents)
    Tumor Gene Database (TGDB): SKI

    Export disorders for SKI 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)
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    PubMed articles for SKI gene, integrated from 10 sources (see all 146):
    (articles sorted by number of sources associating them with SKI)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of human cDNA clones of ski and the ski-related gene, sno. (PubMed id 2762147)1, 2, 3 Nomura N.... Ishizaki R. (Nucleic Acids Res. 1989)
    2. SKI and MEL1 cooperate to inhibit transforming growth factor-beta signal in gastric cancer cells. (PubMed id 19049980)1, 2, 9 Takahata M....Imamura T. (J. Biol. Chem. 2009)
    3. MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. (PubMed id 20572854)1, 4 JagomAogi T....Metspalu A. (Eur. J. Oral Sci. 2010)
    4. Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate. (PubMed id 20672350)1, 4 Nikopensius T....Metspalu A. (Birth Defects Res. Part A Clin. Mol. Teratol. 2010)
    5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    6. Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. (PubMed id 19112531)1, 4 White T.... Young T.L. (Mol. Vis. 2008)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    8. Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate. (PubMed id 16327884)1, 4 Vieira A.R.... Murray J.C. (PLoS Genet. 2005)
    9. Genetic variation in the proto-oncogene SKI and risk for orofacial clefting. (PubMed id 16054854)1, 4 Lu W....Finnell R.H. (Mol. Genet. Metab. 2005)
    10. Requirement of the co-repressor homeodomain-interacting protein kinase 2 for ski-mediated inhibition of bone morphogenetic protein- induced transcriptional activation. (PubMed id 12874272)1, 2 Harada J....Ishii S. (J. Biol. Chem. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      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)
    About This Section

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    Entrez Gene: 6497 HGNC: 10896 AceView: SKI Ensembl:ENSG00000157933 euGenes: HUgn6497
    ECgene: SKI H-InvDB: SKI

    (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 SKI Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SKI Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for SKI gene:
    Search GeneIP for patents involving SKI

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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