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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
Corresponding disease
HPPX hypopituitarism, variable degree
HTC2 hypertrichosis, congenital, generalized 2
MRGH mental retardation, with isolated growth hormone deficiency
Location Xq27.1      Physical location : 139.585.151 - 139.587.225
Synonym name transcription factor SOX-3
Synonym symbol(s) MRGH, SOXB, PHP, GHDX
DNA
TYPE functioning gene
STRUCTURE 2.08 kb     1 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Map cen - DXS51 - DXS1192 - DXS102 - DXS7303 - F9 - DXS7096 - DXS1232 - DXS119 - DXS984 - SOX3 - CDR1 - DXS152 - DXS1205 , DXS105 - qter
Authors Stevanovic (93), Zucchi (97), Mumm (97)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
1 - 2085 - 446 - 2019 31678974
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbraindiencephalonhypothalamus  
Reproductivemale systemprostate   
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier liningneuroepithelium  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain, spinal cord, pituitary, hypothalamus
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