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FLASH GENE
Symbol SOX3 contributors: mct - updated : 18-02-2010
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, SOXB
DNA
TYPE functioning gene
STRUCTURE 2.07 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)
Physical map
FLJ30672 Xq27.1 hypothetical protein FLJ30672 FGF13 Xq26 fibroblast growth factor 13 SRD5AP1 Xq24-qter steroid-5-alpha-reductase, alpha polypeptide pseudogene 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha pseudogene) F9 Xq26.3-q27.1 coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B) MCF2 Xq26.3-q27.1 MCF.2 cell line derived transforming sequence BCYRN1P1 brain cytoplasmic RNA 1, pseudogene 1 ATP11C X ATPase, Class VI, type 11C LOC347487 Xq27.1 hypothetical LOC347487 LOC389893 X LOC389893 LOC389894 X hypothetical gene supported by NM_194247 LOC389895 X similar to PRO0149 protein LOC389896 X LOC389896 LOC266694 Xq27.1 embryonic ectoderm development pseudogene SOX3 Xq27.1 SRY (sex determining region Y)-box 3 CDR1 Xq27.1-q27.2 cerebellar degeneration-related protein 1, 34kDa SPANXB1 Xq27.1 SPANX family, member B1 dJ507I15.1 Xq27.1 ribosomal protein L36a pseudogene LDOC1 Xq27.2 leucine zipper, down-regulated in cancer 1 SPANXC Xq27.1 SPANX family, member C NDUFB3P5 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 5 SPANXA1 Xq27.1 sperm protein associated with the nucleus, X chromosome, family member A1 LOC389897 X hypothetical gene supported by BC042039 SPANXE Xq27.1 SPANX family, member E SPANXD Xq27.1 SPANX family, member D MAGEC3 Xq27.2 melanoma antigen, family C, 3 MAGEC1 Xq26 melanoma antigen, family C, 1 LOC392554 X similar to melanoma antigen, family A, 10; melanoma-associated antigen 10; MAGE-10 antigen LOC392555 X similar to Melanoma-associated antigen E1 (MAGE-E1 antigen) (MAGE-C2 antigen) (Hepatocellular carcinoma-associated antigen 587) (Cancer-testis antigen CT10) LOC139075 Xq27.2 similar to Melanoma-associated antigen E1 (MAGE-E1 antigen) (MAGE-C2 antigen) (Hepatocellular carcinoma-associated antigen 587) (Cancer-testis antigen CT10) MAGEE1 Xq27 melanoma antigen, family E, 1, cancer/testis specific
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
1 - 2074 - 446 - -
EXPRESSION
Type restricted
constitutive of
   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,chromatin/chromosome
    basic FUNCTION
  • modulator of LINE retroposons promoter activity, playing a role in neuronal development
  • required during the formation of hypothalamo-pituitary axis
    • 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
    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)
    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
    Susceptibility
    Variant & Polymorphism
    Candidate gene for development of Peters anomaly of the eye
    Marker
    Therapy target
    ANIMAL & CELL MODELS