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SOX4 Gene

protein-coding   GIFtS: 59
GCID: GC06P021593

SRY (Sex Determining Region Y)-Box 4

  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)
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Aliases
SRY (Sex Determining Region Y)-Box 41 2
EVI162
Ecotropic Viral Integration Site 162
SRY-Related HMG-Box Gene 42
Transcription Factor SOX-42

External Ids:    HGNC: 112001   Entrez Gene: 66592   Ensembl: ENSG000001247667   OMIM: 1844305   UniProtKB: Q069453   

Export aliases for SOX4 gene to outside databases

Previous GC identifers: GC06P021651 GC06P021701


(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 SOX4 Gene:
This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in
the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as
a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein
(syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis
and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone
development. The solution structure has been resolved for the HMG-box of a similar mouse protein. (provided by
RefSeq, Jul 2008)

GeneCards Summary for SOX4 Gene:
SOX4 (SRY (sex determining region Y)-box 4) is a protein-coding gene. Diseases associated with SOX4 include splenic marginal zone lymphoma, and adenoiditis. GO annotations related to this gene include transcription regulatory region sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SOX13.

UniProtKB/Swiss-Prot: SOX4_HUMAN, Q06945
Function: Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif

Gene Wiki entry for SOX4 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:
NC_000006.12  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the SOX4 gene promoter:
         STAT5B   NCX/Ncx   HTF   FOXD3   IRF-1   E47   AREB6   Hand1   ITF-2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSOX4 promoter sequence
   Search Chromatin IP Primers for SOX4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SOX4


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

Entrez Gene cytogenetic band: 6p22.3   Ensembl cytogenetic band:  6p22.3   HGNC cytogenetic band: 6p22.3

SOX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOX4 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P021593:  view genomic region     (about GC identifiers)

Start:
21,593,972 bp from pter      End:
21,598,850 bp from pter
Size:
4,879 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SOX4_HUMAN, Q06945 (See protein sequence)
Recommended Name: Transcription factor SOX-4  
Size: 474 amino acids; 47263 Da
Subunit: Interacts with UBE2I

Explore the universe of human proteins at neXtProt for SOX4: NX_Q06945

Explore proteomics data for SOX4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SOX4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003098.1  
    ENSEMBL proteins: 
     ENSP00000244745   ENSP00000438412  

    SOX4 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for SOX4
    OriGene Protein Over-expression Lysate for SOX4
    OriGene MassSpec for SOX4
    OriGene Custom Protein Services for SOX4
    GenScript Custom Purified and Recombinant Proteins Services for SOX4
    Novus Biologicals SOX4 Protein
    Novus Biologicals SOX4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SOX4

    SOX4 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SOX4
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SOX4
    OriGene Custom Antibody Services for SOX4
    Novus Biologicals SOX4 Antibodies
    Abcam antibodies for SOX4
    Cloud-Clone Corp. Antibodies for SOX4
    ThermoFisher Antibodies for SOX4
    LSBio Antibodies in human, mouse, rat for SOX4

    SOX4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SOX4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SOX4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SOX4
    Cloud-Clone Corp. CLIAs for SOX4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SOX: SRY (sex determining region Y)-boxes

    2 InterPro protein domains:
     IPR009071 HMG_box_dom
     IPR017386 SOX-12/11/4a

    Graphical View of Domain Structure for InterPro Entry Q06945

    ProtoNet protein and cluster: Q06945

    UniProtKB/Swiss-Prot: SOX4_HUMAN, Q06945
    Similarity: Contains 1 HMG box DNA-binding domain


    SOX4 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: SOX4_HUMAN, Q06945
    Function: Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif

         Genatlas biochemistry entry for SOX4:
    SRY related HMG box gene 4,transcriptional activator in embryonic heart,developing
    CNS,lung,tooth-bud,mesonephros,genitalia,pre B and T cells,controlled by progesterone,expressed in normal breast
    and in breast cancer cells,modulator of LINE retroposons promoter activity

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding ISS--
    GO:0001046core promoter sequence-specific DNA binding IDA--
    GO:0001071nucleic acid binding transcription factor activity IMP--
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA19147588
    GO:0001105RNA polymerase II transcription coactivator activity ISS--
         
    SOX4 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SOX4:
     Increased S DNA content  Synthetic lethal with c-Myc af 

         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Sox4) (see all 20):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  mortality/aging  nervous system 

    SOX4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SOX4: Sox4tm2Cle Sox4tm1.1Vlf Sox4tm1Cle

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SOX4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SOX4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SOX4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SOX4

    miRNA
    Products:
        
    miRTarBase miRNAs that target SOX4:
    hsa-mir-30c-5p (MIRT047893), hsa-mir-138-5p (MIRT007335), hsa-mir-129-2-3p (MIRT006648), hsa-mir-191-5p (MIRT004691), hsa-mir-17-5p (MIRT050802), hsa-mir-30b-5p (MIRT023445), hsa-mir-151a-5p (MIRT019525), hsa-mir-204-5p (MIRT007100), hsa-mir-340-5p (MIRT019646), hsa-mir-335-5p (MIRT002431), hsa-mir-98-5p (MIRT027786), hsa-mir-129-5p (MIRT004043)

    Block miRNA regulation of human, mouse, rat SOX4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SOX4 (see all 143):
    hsa-miR-140-5p hsa-miR-576-3p hsa-miR-106a hsa-miR-3074-3p hsa-miR-3653 hsa-miR-519a hsa-miR-92b hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidSOX4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SOX4
    Predesigned siRNA for gene silencing in human, mouse, rat SOX4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SOX4

    Clone
    Products:
         
    OriGene clones in human, mouse for SOX4 (see all 6)
    OriGene ORF clones in mouse, rat for SOX4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SOX4 (NM_003107)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOX4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX4

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SOX4
    Browse ESI BIO Cell Lines and PureStem Progenitors for SOX4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX4


    (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
    SOX4_HUMAN, Q06945: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion4
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA17875931
    GO:0005739mitochondrion IDA--

    SOX4 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 SOX4 About    
    See pathways by source

    SuperPathContained pathways About
    1ERK Signaling
    Molecular Mechanisms of Cancer0.51
    2MicroRNAs in cancer
    MicroRNAs in cancer
    3IL-5 Signaling Pathway
    IL-5 Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SOX4
        Molecular Mechanisms of Cancer

    1 BioSystems Pathway for SOX4
        IL-5 Signaling Pathway


    1 Kegg Pathway  (Kegg details for SOX4):
        MicroRNAs in cancer


    SOX4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SOX4: 
              TGFB/BMP Signaling Pathway in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Prostate Cancer in human mouse rat
              Cardiotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SOX4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for SOX4 (Q069453 ENSP000002447454) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SDCBPO005603, ENSP000002601304I2D: score=3 STRING: ENSP00000260130
    UBE2IP632793, ENSP000003248974I2D: score=2 STRING: ENSP00000324897
    MDM2Q009873, ENSP000004172814I2D: score=1 STRING: ENSP00000417281
    TP53P046373, ENSP000002693054I2D: score=1 STRING: ENSP00000269305
    EP300Q094723, ENSP000002632534I2D: score=1 STRING: ENSP00000263253
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 43):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development ISS--
    GO:0001841neural tube formation ISS--
    GO:0002328pro-B cell differentiation ISS--
    GO:0003183mitral valve morphogenesis ISS--
    GO:0003211cardiac ventricle formation ISS--

    SOX4 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 SOX4

    4 Novoseek inferred chemical compound relationships for SOX4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    progestin 33 9 10517668 (3), 10343288 (3)
    oligonucleotide 26.6 2 12216117 (1)
    prostaglandin 8.44 2 12216117 (1)
    progesterone 5.95 5 10343288 (2), 16631117 (1)



    SOX4 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,
    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 SOX4 gene: 
    NM_003107.2  

    Unigene Cluster for SOX4:

    SRY (sex determining region Y)-box 4
    Hs.643910  [show with all ESTs]
    Unigene Representative Sequence: NM_003107
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000244745(uc003ndi.3) ENST00000543472
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SOX4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SOX4 (see all 143):
    hsa-miR-140-5p hsa-miR-576-3p hsa-miR-106a hsa-miR-3074-3p hsa-miR-3653 hsa-miR-519a hsa-miR-92b hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidSOX4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SOX4
    Predesigned siRNA for gene silencing in human, mouse, rat SOX4
    Clone
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    OriGene clones in human, mouse for SOX4 (see all 6)
    OriGene ORF clones in mouse, rat for SOX4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SOX4 (NM_003107)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOX4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX4
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SOX4
    OriGene qSTAR qPCR primer pairs in human, mouse for SOX4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SOX4
      QuantiTect SYBR Green Assays in human, mouse, rat SOX4
      QuantiFast Probe-based Assays in human, mouse, rat SOX4

    Additional mRNA sequence: 

    AF070669.1 AF124147.1 AJ420500.1 BC072668.1 X65661.1 X70683.1 

    Selected DOTS entries (see all 25):

    DT.91985648  DT.450070  DT.121315380  DT.91789518  DT.216022  DT.100821915  DT.97862175  DT.95170731 
    DT.92332497  DT.100821916  DT.95170740  DT.100821921  DT.95344267  DT.95347141  DT.100656435  DT.100821914 
    DT.100821926  DT.121315376  DT.121315397  DT.95248772  DT.91762123  DT.91794190  DT.95170735  DT.95138778 

    Selected AceView cDNA sequences (see all 531):

    AI218002 AA929033 CA444771 BM821283 CA503330 AI336214 BM973189 AI252627 
    AI367076 AW150093 BU676689 AI017818 AA669237 AI368002 AW182476 CA446016 
    AI568959 AI274195 AW999306 AI539292 BM726021 BM818594 BF115074 BM710890 

    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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    SOX4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAAGTTCAC
    SOX4 Expression
    About this image


    SOX4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Outflow Tract Cushion Cells Outflow Tract Cushion
             Outflow Tract
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Plasmacytoid Dendritic cells Peripheral Blood
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             hIPS1
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    SOX4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SOX4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.643910

    UniProtKB/Swiss-Prot: SOX4_HUMAN, Q06945
    Tissue specificity: Testis, brain, and heart

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SOX4: 
              TGFB/BMP Signaling Pathway in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Prostate Cancer in human mouse rat
              Cardiotoxicity in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SOX4
    OriGene qSTAR qPCR primer pairs in human, mouse for SOX4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SOX4
    QuantiTect SYBR Green Assays in human, mouse, rat SOX4
    QuantiFast Probe-based Assays in human, mouse, rat SOX4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX4

    (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 SOX4 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sox41 , 5 SRY-box containing gene 45
    SRY (sex determining region Y)-box 41
    80(n)1
    78.41(a)1
      13 (12.87 cM)5
    206771  NM_009238.21  NP_033264.21 
     289489195 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    86(a)
    many ↔ many
    4(55344072-55344509)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC688802 hypothetical protein MGC68880 83.4(n)    BC059296.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC064664.12   -- 82.36(n)   393875  BC064664.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sox143 DNA bending 40(a)   60A16   --
    worm
    (Caenorhabditis elegans)
    Secernentea sem-26
    Protein SEM-2 (sem-2) mRNA, complete cds
    24(a)
    1 → many
    I(5204664-5215218) WBGene00004771


    ENSEMBL Gene Tree for SOX4 (if available)
    TreeFam Gene Tree for SOX4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SOX4 gene
    SOX132  SOX22  SOX12  SOX142  SOX32  SOX92  SOX122  SOX152  
    SOX182  SOX52  SOX212  ENSG000002587242  SOX172  SOX62  SOX112  SOX82  
    SRY2  SOX102  SOX72  
    2 SIMAP similar genes for SOX4 using alignment to 1 protein entry:     SOX4_HUMAN:
    SOX10    SOX11

    SOX4 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 SOX4 (see all 141)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1883321431,2
    --21514464(+) GGCAGC/GGTTGC 1 -- us2k10--------
    rs1431408571,2
    C--21514730(+) GTCTCA/GAACTC 1 -- us2k10--------
    rs1812162691,2
    --21514779(+) TGCTGA/GGATTA 1 -- us2k10--------
    rs1134446811,2
    C,F--21514858(+) TTGAAC/TAACAT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1864940931,2
    --21514988(+) ACCCTA/CTATAA 1 -- us2k10--------
    rs1499186511,2
    --21515346(+) CTATAC/TAAAAC 1 -- us2k10--------
    rs1130926401,2
    C,F--21515428(+) GGGCTG/ATGCAG 1 -- us2k11Minor allele frequency- A:0.00CSA 1
    rs1399532941,2
    --21515540(+) CAGCAC/TAAAAA 1 -- us2k10--------
    rs1916980511,2
    --21515558(+) GAAGGA/GATTTA 1 -- us2k10--------
    rs1161292091,2
    C,F--21515843(+) CGCCCC/TGTTCC 1 -- us2k11Minor allele frequency- T:0.02WA 118

    HapMap Linkage Disequilibrium report for SOX4 (21593972 - 21598850 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SOX4: --
    Human Gene Mutation Database (HGMD): SOX4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SOX4
    DNA2.0 Custom Variant and Variant Library Synthesis for SOX4

    (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.)
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    OMIM gene information: 184430    OMIM disorders: --

    Selected diseases for SOX4 (see all 39):    
    About MalaCards
    splenic marginal zone lymphoma    adenoiditis    adenoid cystic carcinoma    endometrial adenocarcinoma
    ependymoma    mantle cell lymphoma    cleft palate    cleft lip
    bladder carcinoma    leiomyoma    pulmonary function    lung adenocarcinoma
    medulloblastoma    adult t-cell leukemia    hepatocellular carcinoma    adenocarcinoma
    endometrial carcinoma    ataxia    t-cell leukemia    hepatitis b


    SOX4 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for SOX4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma adenoid cystic 36.8 1 16636670 (1)
    adenocarcinoma 28.4 1 15665292 (1)
    cancer 23.3 16 19147588 (2), 19887623 (2), 15522200 (1), 19153074 (1) (see all 9)
    tumors 21.5 14 17922414 (3), 19234109 (2), 19887623 (2), 18577562 (1) (see all 8)
    hepatocellular carcinoma 7.08 3 20423819 (2), 12216117 (1)
    breast cancer 3.48 5 10343288 (2), 9129154 (1), 20331975 (1)

    Genetic Association Database (GAD): SOX4
    Human Genome Epidemiology (HuGE) Navigator: SOX4 (3 documents)

    Export disorders for SOX4 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 SOX4 gene, integrated from 10 sources (see all 114):
    (articles sorted by number of sources associating them with SOX4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization and mapping of the human SOX4 gene. (PubMed id 8268656)1, 2, 3 Farr C.J....Goodfellow P.N. (Mamm. Genome 1993)
    2. Ubc9 interacts with SOX4 and represses its transcriptional activity. (PubMed id 16631117)1, 2, 9 Pan X.... Zhang X. (Biochem. Biophys. Res. Commun. 2006)
    3. Assignment of Sox4 to mouse chromosome 13 bands A3-A5 by fluorescence in situ hybridization; refinement of the human SOX4 location to 6p22.3 and of SOX20 to chromosome 17p12.3. (PubMed id 9730625)1, 3, 9 Critcher R....Farr C.J. (Cytogenet. Cell Genet. 1998)
    4. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    7. A conserved family of genes related to the testis determining gene, SRY. (PubMed id 1614875)1, 2 Denny P.... Ashworth A. (Nucleic Acids Res. 1992)
    8. SOX4 expression in bladder carcinoma: clinical aspects and in vitro functional characterization. (PubMed id 16585165)1, 9 Aaboe M....A9rntoft T. (Cancer Res. 2006)
    9. Epigenetic repression of microRNA-129-2 leads to overexpression of SOX4 in gastric cancer. (PubMed id 20331975)1, 9 Shen R....Cheng S. (Biochem. Biophys. Res. Commun. 2010)
    10. Genome-wide promoter analysis of the SOX4 transcriptional network in prostate cancer cells. (PubMed id 19147588)1, 9 Scharer C.D....Moreno C.S. (Cancer Res. 2009)

    (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: 6659 HGNC: 11200 AceView: SOX4 Ensembl:ENSG00000124766 euGenes: HUgn6659
    ECgene: SOX4 Kegg: 6659 H-InvDB: SOX4

    (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 SOX4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SOX4 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 SOX4 gene:
    Search GeneIP for patents involving SOX4

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



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