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SKOR2 Gene

protein-coding   GIFtS: 35
GCID: GC18M044729

SKI Family Transcriptional Corepressor 2

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(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
SKI Family Transcriptional Corepressor 21 2     FUSSEL182 3
Functional Smad Suppressing Element 181 2     LBX1 Corepressor 1-Like Protein2 3
Functional Smad-Suppressing Element On Chromosome 182 3     fussel-182
Ladybird Homeobox Corepressor 1-Like Protein2 3     Fussel-183
CORL22 3     

External Ids:    HGNC: 326951   Entrez Gene: 6529912   Ensembl: ENSG000002154747   UniProtKB: Q2VWA43   

Export aliases for SKOR2 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SKOR2 Gene:
SKOR2 (SKI family transcriptional corepressor 2) is a protein-coding gene. GO annotations related to this gene include histone deacetylase binding and nucleotide binding. An important paralog of this gene is SKI.

UniProtKB/Swiss-Prot: SKOR2_HUMAN, Q2VWA4
Function: Exhibits transcriptional repressor activity (By similarity). Acts as a TGF-beta antagonist in the
nervous system




(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:
   Search for regulatory transcription factor binding sites for SKOR2
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SKOR2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SKOR2


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

Entrez Gene cytogenetic band: 18q21.1   Ensembl cytogenetic band:  18q21.1   HGNC cytogenetic band: 18q21.1

SKOR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SKOR2 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M044729:  view genomic region     (about GC identifiers)

Start:
44,728,874 bp from pter      End:
44,775,554 bp from pter
Size:
46,681 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: SKOR2_HUMAN, Q2VWA4 (See protein sequence)
Recommended Name: SKI family transcriptional corepressor 2  
Size: 1001 amino acids; 104235 Da
Subunit: Interacts with SMAD2 and SMAD3
Alternative splicing: 2 isoforms:  Q2VWA4-1   Q2VWA4-2   

Explore the universe of human proteins at neXtProt for SKOR2: NX_Q2VWA4

Explore proteomics data for SKOR2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SKOR2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001032891.1  NP_001264992.1  

    ENSEMBL proteins: 
     ENSP00000414750   ENSP00000383255  

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    (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
     IPR028376 SKI_corepress_2
     IPR023216 Tscrpt_reg_SKI_SnoN
     IPR010919 SAND_dom-like
     IPR003380 Transform_Ski

    Graphical View of Domain Structure for InterPro Entry Q2VWA4

    ProtoNet protein and cluster: Q2VWA4

    2 Blocks protein domains:
    IPB000770 SAND domain
    IPB010919 SAND-like


    UniProtKB/Swiss-Prot: SKOR2_HUMAN, Q2VWA4
    Similarity: Belongs to the SKI family


    Find genes that share domains with SKOR2           About GenesLikeMe


    (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, 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: SKOR2_HUMAN, Q2VWA4
    Function: Exhibits transcriptional repressor activity (By similarity). Acts as a TGF-beta antagonist in the
    nervous system

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003714transcription corepressor activity ISS--
    GO:0042826histone deacetylase binding IEA--
    GO:0046332SMAD binding IPI16200078
         
    Find genes that share ontologies with SKOR2           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Skor2):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  growth/size/body 
     mortality/aging  nervous system  respiratory system 

    Find genes that share phenotypes with SKOR2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SKOR2
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    (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
    SKOR2_HUMAN, Q2VWA4: Nucleus. Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane3
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16200078
    GO:0005737cytoplasm IDA16200078

    Find genes that share ontologies with SKOR2           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SKOR2
    Interactions:

        Search GeneGlobe Interaction Network for SKOR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for SKOR2 (Q2VWA43 ENSP000004147504) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C7orf55-LUC7L2Q9Y3833I2D: score=1 
    LUC7L2Q9Y3833I2D: score=1 
    BAI2O602413I2D: score=1 
    CFDP007463I2D: score=1 
    CRMP1Q141943I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IBA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated NAS16200078
    GO:0021587cerebellum morphogenesis ----
    GO:0021702cerebellar Purkinje cell differentiation IEA--

    Find genes that share ontologies with SKOR2           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 SKOR2



    (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 SKOR2 gene (2 alternative transcripts): 
    NM_001037802.1  NM_001278063.1  

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000425639 ENST00000400404(uc010dnt.2)
    miRNA
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    GeneLoc Exon Structure


    (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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    SKOR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SKOR2 Expression
    About this image

    SKOR2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SKOR2 Protein Expression

    UniProtKB/Swiss-Prot: SKOR2_HUMAN, Q2VWA4
    Tissue specificity: Expressed in cerebellum, spinal cord and testis. Isoform 2 is present in cerebellum (at
    protein level)

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    In Situ
    Assay Products:
     

     
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SKOR2 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Skor21 , 5 SKI family transcriptional corepressor 21, 5 85.5(n)1
    90.67(a)1
      18 (51.93 cM)5
    6648051  NM_001109743.11  NP_001103213.11 
     768564055 
    chicken
    (Gallus gallus)
    Aves SKOR26
    SKI family transcriptional corepressor 2
    66(a)
    1 ↔ 1
    Z(1724576-1742874)
    lizard
    (Anolis carolinensis)
    Reptilia SKOR26
    SKI family transcriptional corepressor 2
    61(a)
    1 ↔ 1
    1(34262174-34304214)
    zebrafish
    (Danio rerio)
    Actinopterygii SKOR26
    SKI family transcriptional corepressor 2
    62(a)
    1 ↔ 1
    10(14576488-14586634) ENSDARG00000063614
    fruit fly
    (Drosophila melanogaster)
    Insecta CG110936
    --
    31(a)
    1 → many
    4(982967-999048)


    ENSEMBL Gene Tree for SKOR2 (if available)
    TreeFam Gene Tree for SKOR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SKOR2 gene
    SKI2  SKIL2  SKOR12  
    1 SIMAP similar gene for SKOR2 using alignment to 1 protein entry:     SKOR2_HUMAN:
    SKI

    Find genes that share paralogs with SKOR2           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 SKOR2 (see all 578)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs58246561,2
    C--41612107(+) cttttT/-ttttt 1 -- int12Minor allele frequency- -:0.25NA 4
    rs603670521,2
    C--41620560(+) GTACT-/GATTTCC 1 -- int10--------
    rs1171933161,2
    C,F--44733870(+) GTATTG/ATCCCC 1 -- ds50011Minor allele frequency- A:0.01NA 120
    rs1461523631,2
    --44734010(+) GTAACA/TGGGGT 1 -- ds50010--------
    rs1401474261,2
    --44734242(+) AATAAA/GGAATA 1 -- ds50010--------
    rs1874848091,2
    --44734262(+) ACACAA/GCAATA 1 -- ds50010--------
    rs1919949531,2
    --44734372(+) GGGGAA/TCTGTA 2 I F mis10--------
    rs1498159281,2
    --44734376(+) ATCTGC/TAAGAC 1 -- int10--------
    rs1841495171,2
    --44734379(+) TGTAAA/GACAAA 1 -- int10--------
    rs1869715051,2
    --44734676(+) GTATCA/TTATTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for SKOR2 (44728874 - 44775554 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SKOR2: --
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SKOR2
    DNA2.0 Custom Variant and Variant Library Synthesis for SKOR2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with SKOR2           About GenesLikeMe

    Genetic Association Database (GAD): SKOR2
    Human Genome Epidemiology (HuGE) Navigator: SKOR2 (1 document)

    Export disorders for SKOR2 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 SKOR2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SKOR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and functional characterization of a new Ski homolog, Fussel- 18, specifically expressed in neuronal tissues. (PubMed id 16200078)1, 2, 3 Arndt S.... Bosserhoff A.-K. (Lab. Invest. 2005)
    2. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PubMed id 21102462)1, 4 Elks C.E....Murray A. (Nat. Genet. 2010)
    3. Identification of a novel transcriptional corepressor, Corl2, as a cerebellar Purkinje cell-selective marker. (PubMed id 18522874)1, 3 Minaki Y....Ono Y. (Gene Expr. Patterns 2008)
    4. HPV status-independent association of alcohol and tobacco exposure or prior radiation therapy with promoter methylation of FUSSEL18, EBF3, IRX1, and SEPT9, but not SLC5A8, in head and neck squamous cell carcinomas. (PubMed id 20029986)1 Bennett K.L....Eng C. (amp 2010)
    5. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)2 Nusbaum C.... Lander E.S. (Nature 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 652991 HGNC: 32695 Ensembl:ENSG00000215474 euGenes: HUgn652991 ECgene: SKOR2
    H-InvDB: SKOR2

    (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)
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    NameDescription
    PharmGKB entry for SKOR2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SKOR2 gene:
    Search GeneIP for patents involving SKOR2

    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, LSBio, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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     OriGene Custom Antibody Services for SKOR2   OriGene Custom Protein Services for SKOR2  

     
     
     Block miRNA regulation of human, mouse, rat SKOR2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SKOR2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SKOR2 Predesigned siRNA for gene silencing in human, mouse, rat SKOR2
     QuantiFast Probe-based Assays in human, mouse, rat SKOR2 QuantiTect SYBR Green Assays in human, mouse, rat SKOR2
     Custom PCR Arrays for SKOR2 Search Chromatin IP Primers for SKOR2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SKOR2  Search GeneGlobe Interaction Network for SKOR2
     Search Regulatory tfbs for SKOR2
     GenScript Custom Purified and Recombinant Proteins Services for SKOR2 GenScript cDNA clones with any tag delivered in your preferred vector for SKOR2
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     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
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     Search Tocris compounds for SKOR2
     Browse Sino Biological Proteins
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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     Browse ESI BIO Cell Lines and PureStem Progenitors for SKOR2
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     Browse SwitchGear 3'UTR luciferase reporter plasmids for SKOR2
     Browse SwitchGear Promoter luciferase reporter plasmids for SKOR2
     Search ThermoFisher Antibodies for SKOR2
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SKOR2
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SKOR2
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SKOR2
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     Search Addgene for plasmids for SKOR2
      Search eBioscience for proteins for SKOR2
      Search eBioscience for elisas for SKOR2
      eBioscience FlowRNA Probe Sets
           
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