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FLASH GENE
Symbol SOX4 contributors: mct/npt/pgu - updated : 27-09-2016
HGNC name SRY (sex determining region Y)-box 4
HGNC id 11200
Location 6p22.3      Physical location : 21.593.971 - 21.598.847
Synonym name
  • ecotropic viral integration site 16
  • SRY-related HMG-box gene 4
  • Synonym symbol(s) EVI16
    DNA
    TYPE functioning gene
    STRUCTURE 4.88 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 4912 - 474 - 2010 20147379
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   highly
    Endocrineneuroendocrinepituitary  highly
    Nervousbrainbasal nucleistriatum   Homo sapiensFetal
     brainforebraincerebral cortexfrontal cortex  Homo sapiensFetal
     brainhindbraincerebellumcerebellar cortex  Homo sapiensFetal
    Reproductivefemale systembreast   
     male systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte
    cell lineage
    cell lines breast cancer cells
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text heart, mesonephros genitalia, CNS, lung, pre B and T cells, cochlea
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an high mobility group (HMG) domain, required to mediate the interaction with UBE2I
  • a transactivation domain in the carboxyl terminus (transcription activation)(role in the commitment in the normal and malignant mammary gland)
  • SOX4 C-terminal domain regulates polyubiquitin-independent proteasomal degradation of SOX4 that can be modulated by interaction with SDCBP
  • HOMOLOGY
    interspecies homolog to murine Sox4
    homolog to C.elegans w03c9.4
    intraspecies homolog to SOX11
    Homologene
    FAMILY
  • SRY-related HMG box family of transcription factors
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • transcriptional activator in embryonic heart developing CNS, lung, tooth-bud, mesonephros, genitalia, pre B and T cells
  • modulator of LINE retroposons promoter activity
  • central regulatory role during neuronal maturation and mechanistically separate cell cycle withdrawal from the establishment of neuronal properties
  • has a role in insulin secretion in the adult beta-cell downstream of the K(ATP) channel
  • DNA damage sensor, required for the activation of TP53 tumor suppressor in response to DNA damage
  • promotes cell cycle arrest and apoptosis, and inhibits tumorigenesis in a TP53-dependent manner
  • transcription factor involved in embryonic cell differentiation
  • recently implicated in pancreas development and the regulation of insulin secretion
  • is a mediator of TBX3 transcriptional activity
  • SOX4 and CREB1 cooperate and contribute to increased proliferation of hematopoietic progenitor cells
  • SOX11 and SOX4 play critical roles in retinal development, during which they display specific and unique expression patterns
  • SOX4 is a master regulator of EMT by governing the expression of the epigenetic modifier EZH2
  • is required to limit the extent of Hh signaling during eye development
  • contributes to the regulation of Schwann cell myelination, indicating its involvement in the pathophysiology of peripheral neuropathies
  • SOX4-centered physical network during myoblast differentiation
  • is a new regulator of cholangiocyte development
  • SOX4 and SOX9 control formation of primary cilia, which are known signaling regulators
  • is a new regulator of liver development and that it exerts a pleiotropic control on bile duct development in cooperation with SOX9
  • implicated in skeletal myoblast differentiation through the regulation of CALD1 gene expression
  • is a critical component of the PTEN/PI3K/AKT1 pathway in prostate cancer
  • play key roles, often in redundancy, in multiple developmental pathways, including neurogenesis and skeletogenesis
  • is a critical gene for human global, intellectual, and skeletal development
  • significantly participate in neurogenesis and other aspects of embryonic development
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to the T cell enhancer motif 5'-AACAAAG-3'
    RNA
    small molecule
    protein
  • interacting with UBE2I
  • SOX4 is an interacting partner of TBX3
  • SDCBP, a SOX4 binding partner, associates with C-terminal 33 AAs of SOX4 and was found to stabilize SOX4 expression
  • SOX4 transcription factor is a gene that cooperates with CREB1 in myeloid leukemogenesis
  • SOX4 is a direct target gene of FOSL2 and induces expression of HDAC8 in adult T-cell leukemia/lymphoma
  • SOX4 is required for BBC3-mediated apoptosis induced by histone deacetylase inhibitor, TSA
  • is a major trans-acting factor for the regulation of CALD1 expression during myoblast differentiation
  • KAT5 chromodomain was found to facilitate SOX4 recruitment to the CALD1 promoter, which is involved in chromatin remodeling at the promoter
  • cell & other
    REGULATION
    induced by induced in response to DNA damage in a p53-independent manner
    Other controlled by progesterone
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in medulloblastoma
    tumoral     --over  
    in bladder tumor
    tumoral     --over  
    correlates with better survival in bladder tumor and medulloblastoma
    tumoral     --over  
    in lung cancer due to gene amplification and provide evidence of oncogenic properties of SOX4
    Susceptibility to type 2 diabetes and obesity
    Variant & Polymorphism
    Candidate gene
    Marker
  • increased SOX4 expression was a poor independent prognostic predictor for NSCLC patients but may serve as a convictive prognostic biomarker for non-small cell lung cancer (NSCLC) patients
  • Therapy target drugs targeting SOX4 may be a potential anticancer therapeutic approach for future studies
    ANIMAL & CELL MODELS
  • Sox4-null mouse embryos indeed die in utero from heart septation defect