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FLASH GENE
Symbol SATB2 contributors: mct/npt/shn/pgu - updated : 06/02/2014
HGNC name SATB homeobox 2
HGNC id 21637
Corresponding disease
DEL2Q32 chromosome 2q interstitial deletion, including 2q33.1
OFC7 orofacial cleft 7
Location 2q33.1      Physical location : 200.134.223 - 200.335.989
Synonym name
  • SATB family member 2
  • special AT-rich sequence-binding protein 2
  • DNA binding protein SATB2
  • two cut domains-containing homeodomain protein
  • Synonym symbol(s) KIAA1034, FLJ21474, FLJ32076, MGC119474, MGC119477
    DNA
    TYPE functioning gene
    STRUCTURE 201.77 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D2S2392 - D2S2396 - SATB2 - D2S116 - D2S309 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 splicing 5306 - 733 - 2003 14701874
    11 splicing 5730 - 733 - 2003 14701874
    12 - 5326 - 733 - 2003 14701874
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly Homo sapiensAdult
     brain   lowly Homo sapiensFetal
     brain   highly Homo sapiensAdult
    Reproductivemale systemtestis  lowly Homo sapiensAdult
    Urinarykidney   highly Homo sapiensAdult
    cell lineage
    cell lines J558L, M12, 38B9 (
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two CUT DNA-binding domains
  • two central nuclear matrix attachment region (MAR) domains
  • two SUMO acceptor sites that are not present in SATB1
  • a C-terminal homeobox domain
  • HOMOLOGY
    interspecies ortholog to Satb2, Mus musculus
    ortholog to Satb2, Rattus norvegicus
    ortholog to satb2, Danio rerio
    ortholog to SATB2, Pan troglodytes
    Homologene
    FAMILY
  • CUT homeobox family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • may play an important role in palate formation, key regulator of jaw and palate development
  • may regulate differentiation of subsets of neurons at the level of higher order chromatin structure via binding to matrix attachment region DNA elements
  • acts as a molecular node in a transcriptional network regulating skeletal development and osteoblast differentiation (
  • is linked to craniofacial patterning and osteoblast differentiation, as well as development of cortical neurons
  • repressing the expression of several Hox genes
  • along with other AT-rich DNA binding proteins, is involved in mediating epigenetic influences during cortical development
  • potentially key gene coordinating the elaboration of the functional design of jaws, including of the mammalian palate
  • regulate gene expression at the chromatin level
  • function of SATB1 and SATB2 is critically required for the proper differentiation of ES cells into somatic cells
  • functions broadly as a transcription regulator, and its expression patterns suggest an important role in craniofacial and central nervous system development
  • can function as a co-factor to regulate gene expression in osteogenesis and SATB family proteins can act as both co-repressors and co-activators in a context-dependent manner
  • transcription factor, which belongs to the family of special AT-rich binding proteins that binds to nuclear matrix-attachment regions
  • regulatory link between SP7 an SATB2, two important transcription factors, during bone formation
  • SATB1, SATB2 proteins promote trophoblast stem cell renewal and inhibit differentiation
  • SATB1 and SATB2 act similarly to promote stemness and inhibit trophoblast stem cell differentiation
  • required for transcriptional repression of Ctip2 in callosal neurons (
  • a central role for Ski-Satb2 interactions in regulating transcriptional mechanisms of callosal neuron specification (
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • SATB1 and SATB2 can form both homodimers and heterodimers via a highly conserved PDZ domain
  • INTERACTION
    DNA AT-rich DNA elements (
    RNA
    small molecule
    protein
  • MARs (
  • Runx2 and ATF4 (
  • NANOG locus
  • histone deacetylase 1 and metastasis-associated protein 2,
  • SP7 controls SATB2 expression
  • first TP63 binding partner that differentially influences AEC and EEC TP63 mutant proteins
  • EOMES is a target for SATB proteins, SATB1, SATB2
  • SKI (
  • SATB2 binds to the UPF3B promoter, and SATB2 expression significantly activates gene transcription using the UPF3B promoter
  • cell & other
    REGULATION
    Other target for SUMOylation, a reversible modification of the protein that modulates its activity as a transcription factor
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL2Q32 , OFC7
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   translocation    
    t(2;7) or t(2;11) in isolated cleft palate
    Susceptibility
    Variant & Polymorphism
    Candidate gene plausible candidate gene for Toriello-Carey syndrome
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • loss of Satb2 results in amplification of craniofacial defects and leads both to increased apoptosis in the craniofacial mesenchyme where Satb2 is usually expressed and to changes in the pattern of expression of three genes implicated in the regulation of craniofacial development in humans and mice: Pax9, Alx4, and Msx1 (
  • Satb2-/- embryos have delayed bone formation or mineralization