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FLASH GENE
Symbol SOX3 contributors: mct - updated : 25-05-2022
HGNC name SRY (sex determining region Y)-box 3
HGNC id 11199
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an high mobility group (HMG) domain
  • a transactivation domain in the carboxyl terminus (transcription activation
  • HOMOLOGY
    interspecies homolog to murine Sox3 (95.4pc)
    homolog to C.elegans b0286.4
    Homologene
    FAMILY SRY-related HMG box family of transcription factors
    CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • modulator of LINE retroposons promoter activity, playing a role in neuronal development
  • is one of the key players in the development of the nervous system
  • SOX2 and its close relative SOX3 have differentiation functions in oligodendrocytes
  • SOX3, acting as an oncogene in epithelial ovarian cancer (EOC), is a crucial factor in the carcinogenesis
  • SOX2 and SOX3 proteins are functionally equivalent
  • is involved in embryonic development and tumorigenesis
  • may serve as an oncogene in osteosarcoma
  • while SOX3 is a regulatory mechanism for both sexes, the male-exclusive SRY also plays a role in gene regulation, suggesting a potential mechanism for sex bias in autism spectrum disorder (ASD)
  • required during the formation of hypothalamo-pituitary axis
  • role of GPR101 and SOX3 in pituitary function
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text central nervous system development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • TGIF overexpression downregulates SOX3 promoter activity and decreases endogenous SOX3 protein expression in both uninduced and retinoic acid (RA)-induced NT2/D1 cells
  • DBX1 is a direct SOX3 target gene whose expression, intriguingly, is not fully rescued by other SOX transcription factors
  • cell & other
    REGULATION
    Other up-regulated by PBX1 and MEIS1 by a direct interaction with a consensus binding site within the basal promoter region (Mojsin 2010)
    regulation is region-specific, consistent with it playing distinct biological roles in the dorsal telencephalon and hypothalamus
    ASSOCIATED DISORDERS
    corresponding disease(s) MRGH , HPPX , HTC2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in a male patient with hemophilia and mental retardation (and testicular failure)
    constitutional     --low  
    or overexpressed in anterior pituitary hypoplasia (APH), absent infundibulum, and an ectopic/undescended posterior pituitary with or without mental retardation
    constitutional germinal mutation      
    in MRXS15
    constitutional   amplification    
    a case of XX male sex reversal associated with a novel de novo duplication of the SOX3 gene
    tumoral     --low  
    inhibited the proliferation, migration and invasion of osteosarcoma cells
    constitutional   amplification    
    SOX3 duplication in lumbosacral spina bifida
    constitutional     --over  
    promoter of the human SOX3 gene is extremely hypomethylated both in undifferentiated NT2/D1 cells and during the early phases of RA-induced neural differentiation
    tumoral       loss of function
    promoted gastric cancer cell invasion and migration
    Susceptibility to neural tube defects
    Variant & Polymorphism other
  • increased levels of SOX3 could be a risk factor for neural tube defects
  • Candidate gene for development of Peters anomaly of the eye
    Marker
  • may serve as a candidate prognosis marker for gastric cancer
  • Therapy target
    SystemTypeDisorderPubmed
    cancerbone 
    SOX3 downregulation may prove to be a novel approach for the inhibition of osteosarcoma progression
    cancerreproductiveovary
    promising therapeutic target for EOC
    ANIMAL & CELL MODELS