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FLASH GENE
Symbol SOX11 contributors: mct - updated : 23-01-2013
HGNC name SRY (sex determining region Y)-box 11
HGNC id 11191
Corresponding disease
CSSS7 Coffin-siris syndrome 7
Location 2p25.2      Physical location : 5.832.798 - 5.841.516
Synonym name
  • SRY-related HMG-box gene 11
  • transcription factor SOX-11
  • DNA
    TYPE functioning gene
    STRUCTURE 8.72 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • promoter of non-malignant cells was consistently unmethylated whereas lymphoid neoplasms with silenced SOX11 tended to acquire DNA hypermethylation
  • MAPPING cloned Y linked   status confirmed
    Physical map
    TPO 2p25-p24 thyroid peroxidase LOC391344 2 similar to LWamide neuropeptide precursor protein LOC391345 2 similar to splicing factor 3a, subunit 2 LOC391346 2 similar to hypothetical protein LOC391347 2 similar to Mucin 2 precursor (Intestinal mucin 2) MYT1L 2p25.2-p24.3 myelin transcription factor 1-like D2S448 2p25 Melanoma associated gene RNASEH1 2p25 ribonuclease H1 RPS7 2p25 ribosomal protein S7 COLEC11 2p25.3 collectin sub-family member 11 TMSL2 2 thymosin-like 2 ALLC 2q32.1-q36.3 allantoicase LOC391348 2 similar to MGC52970 protein LOC388922 2 similar to Doublecortin domain-containing protein 2 (RU2S protein) LOC253662 2p25.3 hypothetical LOC253662 LOC200475 2p25.3 hypothetical LOC200475 TSSC1 11p15.5 tumor suppressing subtransferable candidate 1 TTC15 2p25.3 tetratricopeptide repeat domain 15 LOC388923 2 LOC388923 SIPL 2p25.3 SIPL protein SOX11 2p25.3 SRY (sex determining region Y)-box 11 FLJ30594 2p25.3 hypothetical protein FLJ30594 LOC391349 2 similar to phosphoinositide-3-kinase, catalytic, delta polypeptide; p110d; phosphatidylinositol 3-kinase, catalytic, delta polypeptide LOC129607 2p25.2 hypothetical protein LOC129607 cig5 2p25.2 viperin RNF144 2p25 ring finger protein 144 LOC129614 2p25.2 similar to acidic integral membrane protein LOC391350 2 similar to ENSANGP00000014942 ID2 2p25 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein KIDINS220 2p24 likely homolog of rat kinase D-interacting substance of 220 kDa LOC129642 2p25.2 hypothetical protein BC016005 DDEF2 2p24 development and differentiation enhancing factor 2 ITGB1BP1 2p25.2 integrin beta 1 binding protein 1 CPSF3 2pter-p25 cleavage and polyadenylation specific factor 3, 73kDa LOC285148 2p25.2 hypothetical protein LOC285148 ADAM17 2p25 a disintegrin and metalloproteinase domain 17 (tumor necrosis factor, alpha, converting enzyme) YWHAQ 2p25 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide TAF1B 2p25 TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa TFCP2L2 2p25.1 transcription factor CP2-like 2 TIEG2 2p25 TGFB inducible early growth response 2 RRM2 2p24 ribonucleotide reductase M2 polypeptide
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 8737 - 441 - 2006 17055661
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
     mouthtongue   
    Nervousbrain    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text high levels in developing sensory neurons system, somites, limbs, facial mesenchyme, kidney, lung
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an high mobility group (HMG) domain
  • a DNA binding domain responsible for selective cooperation with the POU factor POU3F2
  • a autoinhibitory domain that can repress promiscuous binding of to DNA and plays an important role in regulating the recruitment of to specific genes
  • a transactivation domain in the carboxyl terminus (transcription activation)
  • HOMOLOGY
    interspecies homolog to murine Sox11
    homolog to C.elegans Y56a3a.7
    Homologene
    FAMILY SRY-related HMG box family of transcription factors
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • modulator of LINE retroposons promoter activity
  • playing a role in the developing nervous system
  • playing a central regulatory role during neuronal maturation and mechanistically separate cell cycle withdrawal from the establishment of neuronal properties
  • playing a central role in regulating events that promote neurite growth and neuron survival
  • transcription factor that is involved in tissue remodeling during embryogenesis and is crucial for neurogenesis
  • pathogenic role of SOX11 is associated with its de novo expression in some aggressive lymphoid malignancies, which is mediated by a shift from inactivating to activating histone modifications
  • SOX11 and SOX4 play critical roles in retinal development, during which they display specific and unique expression patterns
  • contributes to tumor development by altering the terminal B-cell differentiation program of mantle cell lymphoma
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text neurogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
    protein
  • DBN1, SETMAR, HILPDA, are direct targets of the SOX11 protein (are direct transcriptional targets of the SOX11 protein)
  • SOX11 represents a synergistic factor for WT1 in regulating the WNT4 gene expression that is critical for nephrogenesis during kidney ontogeny
  • regulation of TANK expression is, at least in part, controlled by the injury-associated transcription factor SOX11
  • PAX5 is one of the major SOX11 direct targets
  • SOX11 is a potential regulator of GDF5 expression in joint maintenance, suggesting a possible role in the pathogenesis of osteoarthritis
  • cell & other
    REGULATION
    induced by retinoic acid for 5 weeks
    ASSOCIATED DISORDERS
    corresponding disease(s) CSSS7
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in classical medulloblastomas
    tumoral     --other  
    aberrantly expressed in mantle cell lymphoma (MCL)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS