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SPEN Gene

protein-coding   GIFtS: 57
GCID: GC01P016174

Spen Family Transcriptional Repressor

(Previous names: SPEN homolog, transcriptional regulator (Drosophila), spen...)
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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
Spen Family Transcriptional Repressor1 2     Msx2 Interacting Nuclear Target (MINT) Homolog2
MINT2 3 5     Msx2-Interacting Protein2
SHARP2 3 5     Nuclear Receptor Transcription Cofactor2
SMART/HDAC1-Associated Repressor Protein2 3     SMART/HDAC1 Associated Repressor Protein2
HIAA09292 5     Spen Homolog, Transcriptional Regulator2
Spen Homolog, Transcriptional Regulator (Drosophila)1     KIAA09293
RBM15C2     SPEN Homolog3

External Ids:    HGNC: 175751   Entrez Gene: 230132   Ensembl: ENSG000000655267   OMIM: 6134845   UniProtKB: Q96T583   

Export aliases for SPEN gene to outside databases

Previous GC identifers: GC01P015920 GC01P016047 GC01P014692


(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 SPEN Gene:
This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product
can occur through interactions with other repressors, by the recruitment of proteins involved in histone
deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a
carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction
with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In
addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA
coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. (provided
by RefSeq, Jul 2008)

GeneCards Summary for SPEN Gene:
SPEN (spen family transcriptional repressor) is a protein-coding gene. Diseases associated with SPEN include megakaryocytic leukemia, and microcystic adenoma. GO annotations related to this gene include nucleotide binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is RBM15B.

UniProtKB/Swiss-Prot: MINT_HUMAN, Q96T58
Function: May serve as a nuclear matrix platform that organizes and integrates transcriptional responses. In
osteoblasts, supports transcription activation: synergizes with RUNX2 to enhance FGFR2-mediated activation of the
osteocalcin FGF-responsive element (OCFRE) (By similarity). Has also been shown to be an essential corepressor
protein, which probably regulates different key pathways such as the Notch pathway. Negative regulator of the
Notch pathway via its interaction with RBPSUH, which prevents the association between NOTCH1 and RBPSUH, and
therefore suppresses the transactivation activity of Notch signaling. Blocks the differentiation of precursor
B-cells into marginal zone B-cells. Probably represses transcription via the recruitment of large complexes
containing histone deacetylase proteins. May bind both to DNA and RNA

Gene Wiki entry for SPEN Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the SPEN gene promoter:
         Pax-5   p53   HNF-1A   MEF-2A   HNF-1   HSF2   aMEF-2   ZIC2/Zic2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPEN promoter sequence
   Search Chromatin IP Primers for SPEN

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


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

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.21   HGNC cytogenetic band: 1p36

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P016174:  view genomic region     (about GC identifiers)

Start:
16,174,359 bp from pter      End:
16,266,955 bp from pter
Size:
92,597 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MINT_HUMAN, Q96T58 (See protein sequence)
Recommended Name: Msx2-interacting protein  
Size: 3664 amino acids; 402248 Da
Subunit: Interacts with MSX2 and HIPK3 (By similarity). Interacts with NCOR2, HDAC1, HDAC2, RBBP4, MBD3 and
MTA1L1. Interacts with RBPSUH; this interaction may prevent the interaction between RBPSUH and NOTCH1. Interacts
with the nuclear receptors RAR and PPARD. Interacts with RAR in absence of ligand. Binds to the steroid receptor
RNA coactivator SRA. Interacts with Epstein-Barr virus BSFL2/BMLF1
Sequence caution: Sequence=BAA91405.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB14324.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAB51072.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
2 PDB 3D structures from and Proteopedia for SPEN:
1OW1 (3D)        2RT5 (3D)    
Secondary accessions: Q9H9A8 Q9NWH5 Q9UQ01 Q9Y556

Explore the universe of human proteins at neXtProt for SPEN: NX_Q96T58

Explore proteomics data for SPEN at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1293, Lys1308, Lys1361, Lys1430, Lys1445, Lys1864, Lys2617, Lys2680, Lys2967, Lys2971
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_055816.2  
    ENSEMBL proteins: 
     ENSP00000364912   ENSP00000388021   ENSP00000400914  

    SPEN Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SPEN
    GenScript Custom Purified and Recombinant Proteins Services for SPEN
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPEN

    SPEN Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Browse OriGene Antibodies
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    Novus Biologicals SPEN Antibodies
    Abcam antibodies for SPEN
    Cloud-Clone Corp. Antibodies for SPEN
    Search ThermoFisher Antibodies for SPEN
    LSBio Antibodies in human, mouse, rat for SPEN

    SPEN Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SPEN
    Cloud-Clone Corp. CLIAs for SPEN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RBM: RNA binding motif (RRM) containing

    5 InterPro protein domains:
     IPR010912 SPOC_met
     IPR016194 SPOC_like_C_dom
     IPR012921 SPOC_C
     IPR000504 RRM_dom
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry Q96T58

    ProtoNet protein and cluster: Q96T58

    2 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB012921 SPOC


    UniProtKB/Swiss-Prot: MINT_HUMAN, Q96T58
    Domain: The RID domain mediates the interaction with nuclear receptors (By similarity)
    Domain: The SPOC domain, which mediates the interaction with NCOR2, is essential for the repressive activity
    Similarity: Belongs to the RRM Spen family
    Similarity: Contains 1 RID (receptor interacting) domain
    Similarity: Contains 4 RRM (RNA recognition motif) domains
    Similarity: Contains 1 SPOC domain


    SPEN for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: MINT_HUMAN, Q96T58
    Function: May serve as a nuclear matrix platform that organizes and integrates transcriptional responses. In
    osteoblasts, supports transcription activation: synergizes with RUNX2 to enhance FGFR2-mediated activation of the
    osteocalcin FGF-responsive element (OCFRE) (By similarity). Has also been shown to be an essential corepressor
    protein, which probably regulates different key pathways such as the Notch pathway. Negative regulator of the
    Notch pathway via its interaction with RBPSUH, which prevents the association between NOTCH1 and RBPSUH, and
    therefore suppresses the transactivation activity of Notch signaling. Blocks the differentiation of precursor
    B-cells into marginal zone B-cells. Probably represses transcription via the recruitment of large complexes
    containing histone deacetylase proteins. May bind both to DNA and RNA
    Induction: By 17-beta-estradiol

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0001085RNA polymerase II transcription factor binding IPI16287852
    GO:0001191RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription IDA16287852
    GO:0003676nucleic acid binding ----
    GO:0003697single-stranded DNA binding IEA--
         
    SPEN for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SPEN:
     Decreased viability with pacli 

         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Spen):
     behavior/neurological  cardiovascular system  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     immune system  integument  liver/biliary system  mortality/aging  nervous system 

    SPEN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SPEN: Spentm2.2Hon Spentm1Hon

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target SPEN:
    hsa-mir-196a-5p (MIRT048159), hsa-mir-320a (MIRT044789), hsa-mir-186-5p (MIRT045089), hsa-mir-769-5p (MIRT039166), hsa-mir-106b-5p (MIRT044364), hsa-mir-151a-5p (MIRT019521), hsa-mir-328-3p (MIRT043756), hsa-mir-125b-5p (MIRT046031), hsa-mir-615-3p (MIRT039949), hsa-mir-193b-3p (MIRT041415), hsa-mir-324-5p (MIRT043099), hsa-mir-423-3p (MIRT042502), hsa-mir-16-5p (MIRT051293), hsa-mir-23b-5p (MIRT038656), hsa-mir-877-3p (MIRT037187), hsa-mir-331-3p (MIRT043465), hsa-mir-92a-3p (MIRT049048)

    Block miRNA regulation of human, mouse, rat SPEN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPEN (see all 56):
    hsa-miR-142-5p hsa-miR-3152-3p hsa-miR-15a hsa-miR-1258 hsa-miR-16-1* hsa-miR-301a hsa-miR-30d hsa-miR-624
    SwitchGear 3'UTR luciferase reporter plasmidSPEN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SPEN
    Predesigned siRNA for gene silencing in human, mouse, rat SPEN

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

    Clone
    Products:
         
    OriGene clones in human, mouse for SPEN (see all 4)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SPEN (NM_015001)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPEN
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPEN

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SPEN
    Browse ESI BIO Cell Lines and PureStem Progenitors for SPEN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPEN


    (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
    MINT_HUMAN, Q96T58: Nucleus. Note=Associates with chromatin
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0017053transcriptional repressor complex IDA16287852
    GO:0070062extracellular vesicular exosome IDA19056867

    SPEN for ontologies           About GeneDecksing


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

    SuperPathContained pathways About
    1Notch signaling pathway (KEGG)
    Delta-Notch Signaling Pathway0.33
    2Notch Signaling Pathways
    Notch Signaling Pathways
    3Notch signaling pathway (Pathway Interaction Database)
    Notch signaling pathway
    4Notch-mediated HES/HEY network
    Notch-mediated HES/HEY network

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for SPEN
        Notch Signaling Pathways


    3 BioSystems Pathways for SPEN
        Delta-Notch Signaling Pathway
    Notch signaling pathway
    Notch-mediated HES/HEY network


        Pathway & Disease-focused RT2 Profiler PCR Arrays including SPEN: 
              Parkinson's Disease in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SPEN

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

    Selected Interacting proteins for SPEN (Q96T581, 2, 3 ENSP000003649124) via UniProtKB, MINT, STRING, and/or I2D (see all 624)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC1Q135472, 3, ENSP000003626494MINT-7947479 I2D: score=3 STRING: ENSP00000362649
    NCK1P163331, 3, ENSP000002889864EBI-765739,EBI-389883 I2D: score=2 STRING: ENSP00000288986
    NCOR1O753762, 3, ENSP000002687124MINT-7947479 I2D: score=2 STRING: ENSP00000268712
    RBBP4Q090282, 3, ENSP000003625924MINT-7947479 I2D: score=2 STRING: ENSP00000362592
    ETV6P412122, 3, ENSP000002664274MINT-7947479 I2D: score=1 STRING: ENSP00000266427
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA16287852
    GO:0007219Notch signaling pathway IEA--
    GO:0016032viral process IEA--
    GO:0019048modulation by virus of host morphology or physiology ----
    GO:0045892negative regulation of transcription, DNA-templated IDA16129689

    SPEN for ontologies           About GeneDecksing



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

    Browse Tocris compounds for SPEN (MINT)

    1 Novoseek inferred chemical compound relationship for SPEN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoid 59.5 3 17234755 (1), 11867749 (1), 12897056 (1)



    SPEN for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SPEN gene: 
    NM_015001.2  

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375759(uc001axk.1 uc010obp.1) ENST00000471538 ENST00000438066
    ENST00000442985 ENST00000487496

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SPEN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPEN (see all 56):
    hsa-miR-142-5p hsa-miR-3152-3p hsa-miR-15a hsa-miR-1258 hsa-miR-16-1* hsa-miR-301a hsa-miR-30d hsa-miR-624
    SwitchGear 3'UTR luciferase reporter plasmidSPEN 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SPEN
    Predesigned siRNA for gene silencing in human, mouse, rat SPEN
    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: SPEN (NM_015001)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPEN
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPEN
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SPEN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPEN
      QuantiTect SYBR Green Assays in human, mouse, rat SPEN
      QuantiFast Probe-based Assays in human, mouse, rat SPEN

    Selected AceView cDNA sequences (see all 290):

    BM786279 BI024731 T87389 BU631681 BQ014025 BM719421 BM720356 AW003900 
    AK127577 AA928726 BU625018 CB216414 BQ881109 CD676315 AW469387 NM_015001 
    BM992098 AA286870 BF431679 BX091467 BQ182221 W89203 BU624742 AW069449 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SPEN (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b
    SP1:                                      -     -                                                                                                   
    SP2:                                      -     -                                                                                                   
    SP3:                                                                                                                                                
    SP4:                                                                                                                          -                     
    SP5:                                      -     -                                                                                                   


    ECgene alternative splicing isoforms for SPEN

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


    SPEN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    SPEN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPEN Protein Expression

    UniProtKB/Swiss-Prot: MINT_HUMAN, Q96T58
    Tissue specificity: Expressed at high level in brain, testis, spleen and thymus. Expressed at intermediate level
    in kidney, liver, mammary gland and skin

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SPEN: 
              Parkinson's Disease in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SPEN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPEN
    QuantiTect SYBR Green Assays in human, mouse, rat SPEN
    QuantiFast Probe-based Assays in human, mouse, rat SPEN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPEN

    (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 SPEN gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spen1 , 5 SPEN homolog, transcriptional regulator (Drosophila)1, 5 81.01(n)1
    82.46(a)1
      4 (74.26 cM)5
    563811  NM_019763.21  NP_062737.21 
     1414678905 
    chicken
    (Gallus gallus)
    Aves SPEN6
    spen family transcriptional repressor
    69(a)
    1 ↔ 1
    21(4260524-4301058)
    lizard
    (Anolis carolinensis)
    Reptilia SPEN6
    spen family transcriptional repressor
    64(a)
    1 ↔ 1
    GL343609.1(241896-307634)
    African clawed frog
    (Xenopus laevis)
    Amphibia BG555621.12   -- 85.02(n)    BG555621.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570509812   -- 77.3(n)   322667  57050981 
    fruit fly
    (Drosophila melanogaster)
    Insecta spen6
    split ends
    10(a)
    1 ↔ 1
    2L(159032-203250)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPEN gene
    RBM15B2  RBM152  
    1 SIMAP similar gene for SPEN using alignment to 3 protein entries:     MINT_HUMAN (see all proteins):
    SRSF1

    SPEN for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SPEN (see all 1925)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0354844
    A breast cancer sample4--see VAR_0354842 R I mis40--------
    VAR_0354834
    A breast cancer sample4--see VAR_0354832 D H mis40--------
    rs1142251991,2
    F--16176874(+) GTCCCT/GGAAAT 1 -- int11Minor allele frequency- G:0.02WA 118
    rs1999557601,2
    C--16176879(+) TGAAA-/TTCTT 
            
    TTATT
    1 -- int10--------
    rs349270681,2
    C--16176896(+) AAAGG-/TTTTTT 1 -- int12Minor allele frequency- T:0.00NA CSA 4
    rs2021529181,2
    C--16176896(+) AAAGGG/TTTTTT 1 -- int10--------
    rs1874373051,2
    --16176917(+) TTAAAC/GAAATC 1 -- int10--------
    rs1389814951,2
    --16176959(+) TATGGA/GTTCAA 1 -- int10--------
    rs1493448641,2
    --16176970(+) AGCATA/GTGAAA 1 -- int10--------
    rs577552261,2
    C,F--16176984(+) ATACAG/CAGAAA 1 -- int12Minor allele frequency- C:0.19WA 120

    HapMap Linkage Disequilibrium report for SPEN (16174359 - 16266955 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SPEN (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668319CNV Deletion23128226
    esv2744352CNV Deletion23290073
    esv2665696CNV Deletion23128226
    nsv508936CNV Insertion20534489
    dgv174n71CNV Loss21882294
    nsv3409CNV Loss18451855
    nsv833647CNV Loss17160897
    nsv829559CNV Loss20364138
    nsv870503CNV Loss21882294
    esv22591CNV Gain19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPEN
    DNA2.0 Custom Variant and Variant Library Synthesis for SPEN

    (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.)
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    OMIM gene information: 613484    OMIM disorders: --

    Selected diseases for SPEN (see all 21):    About MalaCards
    megakaryocytic leukemia    microcystic adenoma    pancreatic cystadenoma    acinar cell carcinoma
    cheilitis    cystadenoma    myotonic dystrophy    brain cancer
    adenoma    breast and colorectal cancer    parkinson's disease    tonsillitis
    ataxia    pancreatitis    hiv-1    colorectal cancer
    thyroiditis    leukemia    cerebritis    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for SPEN:
    Microcystic adenoma     Pancreatic cystadenoma

    SPEN for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for SPEN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 0 2 17234755 (1), 15824732 (1)

    Genetic Association Database (GAD): SPEN

    Export disorders for SPEN 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 SPEN gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with SPEN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sharp, an inducible cofactor that integrates nuclear receptor repression and activation. (PubMed id 11331609)1, 2, 3, 9 Shi Y.... Evans R.M. (Genes Dev. 2001)
    2. A conserved structural motif reveals the essential transcriptional repression function of Spen proteins and their role in developmental signaling. (PubMed id 12897056)1, 2, 9 Ariyoshi M. and Schwabe J.W.R. (Genes Dev. 2003)
    3. Interaction of the Epstein-Barr virus mRNA export factor EB2 with human Spen proteins SHARP, OTT1, and a novel member of the family, OTT3, links Spen proteins with splicing regulation and mRNA export. (PubMed id 16129689)1, 2, 9 Hiriart E.... Manet E. (J. Biol. Chem. 2005)
    4. The peroxisome proliferator-activated receptor delta, an integrator of transcriptional repression and nuclear receptor signaling. (PubMed id 11867749)1, 2, 9 Shi Y.... Evans R.M. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. SHARP is a novel component of the Notch/RBP-Jkappa signalling pathway. (PubMed id 12374742)1, 2 Oswald F....Schmid R.M. (EMBO J. 2002)
    9. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (DNA Res. 1999)
    10. The RRM domain of MINT, a novel Msx2 binding protein, recognizes and regulates the rat osteocalcin promoter. (PubMed id 10451362)1, 3 Newberry E.P....Towler D.A. (Biochemistry 1999)

    (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)
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    Entrez Gene: 23013 HGNC: 17575 AceView: SHARP Ensembl:ENSG00000065526 euGenes: HUgn23013
    ECgene: SPEN H-InvDB: SPEN

    (According to HUGE)
    About This Section

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    HUGE: KIAA0929

    (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 SPEN Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SPEN 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

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    Patent Information for SPEN gene:
    Search GeneIP for patents involving SPEN

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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