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

SKOR2 Gene

protein-coding   GIFtS: 34
GCID: GC18M044729

SKI Family Transcriptional Corepressor 2

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

GeneCards Summary for SKOR2 Gene: 
SKOR2 (SKI family transcriptional corepressor 2) is a protein-coding gene. Diseases associated with SKOR2 include alcoholism, and neuronitis. GO annotations related to this gene include nucleotide binding and SMAD 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SKOR2
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Nucleus. Cytoplasm
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q2VWA4

  • SKOR2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SKOR2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001032891.1  NP_001264992.1  

    ENSEMBL proteins: 
     ENSP00000414750   ENSP00000383255  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    SKOR2 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: 
    SKOR: SKI transcriptional corepressors

    5 InterPro protein domains:
     IPR009061 DNA-bd_dom_put
     IPR010919 SAND_dom-like
     IPR023216 Tscrpt_reg_SKI_SnoN
     IPR003380 Transform_Ski
     IPR014890 c-SKI_SMAD4-bd_dom

    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


    SKOR2 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003714transcription corepressor activity ISS--
    GO:0042826histone deacetylase binding IEA--
    GO:0046332SMAD binding IPI16200078
         
    SKOR2 for ontologies           About GeneDecksing


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

    SKOR2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SKOR2 
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    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SKOR2

    5/13 Interacting proteins for SKOR2 (Q2VWA43) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    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): 5/10 biological process terms (GO ID links to tree view) (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-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent NAS16200078
    GO:0021587cerebellum morphogenesis ----
    GO:0021702cerebellar Purkinje cell differentiation IEA--

    SKOR2 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SKOR2

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SKOR2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SKOR2

    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™, 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

    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


    See SKOR2 Protein Expression from SPIRE MOPED and PaxDB

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

        SABiosciences Custom PCR Arrays for SKOR2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SKOR2

    (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.

    Orthologs for SKOR2 gene from 5/9 species (see all 9)    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 86.92(n)1
    92.85(a)1
      18 (51.93 cM)5
    6648051  NM_001109743.11  NP_001103213.11 
     768564055 
    chicken
    (Gallus gallus)
    Aves SKOR21 SKI family transcriptional corepressor 2 75.01(n)
    77.92(a)
      770237  XM_001233569.2  XP_001233570.2 
    lizard
    (Anolis carolinensis)
    Reptilia SKOR26
    Uncharacterized protein
    44(a)
    1 ↔ 1
    1(34262174-34304214)
    zebrafish
    (Danio rerio)
    Actinopterygii SKOR26
    SKI family transcriptional corepressor 2
    52(a)
    1 ↔ 1
    10(14576488-14586634)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG110936
    --
    27(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)
    About This Section
    Paralogs for SKOR2 gene
    SKI2  SKIL2  SKOR12  
    1 SIMAP similar gene for SKOR2 using alignment to 1 protein entry:     SKOR2_HUMAN:
    SKI

    SKOR2 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

    10/578 SNPs in SKOR2 are shown (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: --
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for SKOR2:    About MalaCards
    alcoholism    neuronitis


    SKOR2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for SKOR2 gene integrated from 9 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. (2005)
    2. Thirty new loci for age at menarche identified by a m eta-analysis of genome-wide association studies. (PubMed id 21102462)1, 4 Elks C.E....Murray A. (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. (2008)
    4. HPV status-independent association of alcohol and tob acco exposure or prior radiation therapy with promoter methylation of FUSSEL18, EBF3, IRX1, and SEPT9, but not SLC5A8, in head and neck squamous cell carcinom as. (PubMed id 20029986)1 Bennett K.L....Eng C. (2010)
    5. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)2 Nusbaum C.... Lander E.S. (2005)

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

    (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 SKOR2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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