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SATB2 Gene

protein-coding   GIFtS: 61
GCID: GC02M200098

SATB Homeobox 2

(Previous name: SATB family member 2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SATB Homeobox 21 2
SATB Family Member 21 2
Special AT-Rich Sequence-Binding Protein 22 3
KIAA10343 5
DNA-Binding Protein SATB22

External Ids:    HGNC: 216371   Entrez Gene: 233142   Ensembl: ENSG000001190427   OMIM: 6081485   UniProtKB: Q9UPW63   

Export aliases for SATB2 gene to outside databases

Previous GC identifers: GC02M200336 GC02M199959 GC02M199842 GC02M191986


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SATB2 Gene:
This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded
protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated
with isolated cleft palate and mental retardation. Alternate splicing results in multiple transcript variants
that encode the same protein. (provided by RefSeq, Feb 2010)

GeneCards Summary for SATB2 Gene:
SATB2 (SATB homeobox 2) is a protein-coding gene. Diseases associated with SATB2 include 2q32q33 microdeletion syndrome, and 2q33.1 microdeletion syndrome. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SATB1.

UniProtKB/Swiss-Prot: SATB2_HUMAN, Q9UPW6
Function: Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the
sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, by
binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a
docking site for several chromatin remodeling enzymes and also by recruiting corepressors (HDACs) or coactivators
(HATs) directly to promoters and enhancers. Required for the initiation of the upper-layer neurons (UL1) specific
genetic program and for the inactivation of deep-layer neurons (DL) and UL2 specific genes, probably by
modulating BCL11B expression. Repressor of Ctip2 and regulatory determinant of corticocortical connections in the
developing cerebral cortex. May play an important role in palate formation. Acts as a molecular node in a
transcriptional network regulating skeletal development and osteoblast differentiation

Gene Wiki entry for SATB2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SATB2 gene promoter:
         E2F-3a   E2F-4   E2F   E2F-1   NRSF form 1   E2F-2   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSATB2 promoter sequence
   Search Chromatin IP Primers for SATB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SATB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33.1

SATB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SATB2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M200098:  view genomic region     (about GC identifiers)

Start:
200,134,223 bp from pter      End:
200,335,989 bp from pter
Size:
201,767 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SATB2_HUMAN, Q9UPW6 (See protein sequence)
Recommended Name: DNA-binding protein SATB2  
Size: 733 amino acids; 82555 Da
Subunit: Interacts with ATF4 and RUNX2; resulting in enhanced DNA binding and transactivation by these
transcription factors (By similarity). Interacts with PIAS1
Sequence caution: Sequence=BAA82986.1; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for SATB2:
1WI3 (3D)        1WIZ (3D)        2CSF (3D)    
Secondary accessions: A8K5Z8 Q4V763

Explore the universe of human proteins at neXtProt for SATB2: NX_Q9UPW6

Explore proteomics data for SATB2 at MOPED

Post-translational modifications: 

  • Sumoylated by PIAS1. Sumoylation promotes nuclear localization, but represses transcription factor activity1
  • Ubiquitination2 at Lys184
  • Modification sites at PhosphoSitePlus

  • See SATB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001165980.1  NP_001165988.1  NP_056080.1  

    ENSEMBL proteins: 
     ENSP00000401112   ENSP00000388764   ENSP00000260926   ENSP00000388581   ENSP00000405420  
     ENSP00000415610  

    SATB2 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SATB2
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    Novus Biologicals SATB2 Proteins
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    Cloud-Clone Corp. Proteins for SATB2

    SATB2 Antibody Products:

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    ThermoFisher Antibodies for SATB2
    LSBio Antibodies in human, mouse, rat for SATB2

    SATB2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SATB2
    Cloud-Clone Corp. CLIAs for SATB2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CUT: Homeoboxes / CUT class

    4 InterPro protein domains:
     IPR010982 Lambda_DNA-bd_dom
     IPR003350 Hmoeo_CUT
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q9UPW6

    ProtoNet protein and cluster: Q9UPW6

    1 Blocks protein domain: IPB003350 Homeodomain protein CUT

    UniProtKB/Swiss-Prot: SATB2_HUMAN, Q9UPW6
    Similarity: Belongs to the CUT homeobox family
    Similarity: Contains 2 CUT DNA-binding domains
    Similarity: Contains 1 homeobox DNA-binding domain


    SATB2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SATB2_HUMAN, Q9UPW6
    Function: Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the
    sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, by
    binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a
    docking site for several chromatin remodeling enzymes and also by recruiting corepressors (HDACs) or coactivators
    (HATs) directly to promoters and enhancers. Required for the initiation of the upper-layer neurons (UL1) specific
    genetic program and for the inactivation of deep-layer neurons (DL) and UL2 specific genes, probably by
    modulating BCL11B expression. Repressor of Ctip2 and regulatory determinant of corticocortical connections in the
    developing cerebral cortex. May play an important role in palate formation. Acts as a molecular node in a
    transcriptional network regulating skeletal development and osteoblast differentiation

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI--
    GO:0043565sequence-specific DNA binding IEA--
         
    SATB2 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Satb2):
     craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland  limbs/digits/tail 
     mortality/aging  respiratory system  skeleton 

    SATB2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Satb2tm1Rug for SATB2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SATB2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SATB2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SATB2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SATB2

    miRNA
    Products:
        
    miRTarBase miRNAs that target SATB2:
    hsa-mir-34a-5p (MIRT025532), hsa-mir-31-5p (MIRT006567), hsa-mir-192-5p (MIRT026761), hsa-mir-149-5p (MIRT045505), hsa-mir-320b (MIRT036228), hsa-mir-505-5p (MIRT037950), hsa-mir-320a (MIRT044745)

    Block miRNA regulation of human, mouse, rat SATB2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SATB2 (see all 104):
    hsa-miR-140-5p hsa-miR-26a-2* hsa-miR-607 hsa-miR-128 hsa-miR-30d hsa-miR-519a hsa-miR-10b* hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidSATB2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SATB2
    Predesigned siRNA for gene silencing in human, mouse, rat SATB2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): SATB2 (NM_015265)
    Sino Biological Human cDNA Clone for SATB2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SATB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SATB2

    Cell Line
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    ESI BIO PureStem Progenitor for SATB2: 
    PureStem MEL2, NCr-fac Progenitor
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SATB2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SATB2_HUMAN, Q9UPW6: Nucleus matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane2
    cytosol1
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000118histone deacetylase complex IEA--
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex IEA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    SATB2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SATB2
    Interactions:

        GeneGlobe Interaction Network for SATB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SATB2 (Q9UPW61, 2, 3 ENSP000002609264) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP63Q9H3D4-21, ENSP000002647314EBI-8298169,EBI-6481107 MINT-8040599 MINT-8040614 MINT-8040583 MINT-8040535 MINT-8044440 MINT-8040642 MINT-8040525 MINT-8040627 I2D: score=1 STRING: ENSP00000264731
    PIAS1O759253, ENSP000002496364I2D: score=2 STRING: ENSP00000249636
    MTA2O947763, ENSP000002788234I2D: score=1 STRING: ENSP00000278823
    HDAC1Q135473, ENSP000003626494I2D: score=1 STRING: ENSP00000362649
    TFCP2L1Q9NZI63I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001764neuron migration IEA--
    GO:0002076osteoblast development IEA--
    GO:0006338chromatin remodeling IEA--
    GO:0006351transcription, DNA-templated IEA--

    SATB2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SATB2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SATB2 gene (3 alternative transcripts): 
    NM_001172509.1  NM_001172517.1  NM_015265.3  

    Unigene Cluster for SATB2:

    SATB homeobox 2
    Hs.516617  [show with all ESTs]
    Unigene Representative Sequence: NM_001172509
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000417098(uc010fsq.2 uc002uuy.2) ENST00000443023 ENST00000260926(uc002uva.2 uc002uuz.2)
    ENST00000428695 ENST00000457245 ENST00000473517 ENST00000483346 ENST00000484124
    ENST00000440919 ENST00000463386
    miRNA
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    Block miRNA regulation of human, mouse, rat SATB2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SATB2 (see all 104):
    hsa-miR-140-5p hsa-miR-26a-2* hsa-miR-607 hsa-miR-128 hsa-miR-30d hsa-miR-519a hsa-miR-10b* hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidSATB2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SATB2
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    OriGene ORF clones in mouse, rat for SATB2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SATB2 (NM_015265)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SATB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SATB2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SATB2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SATB2
      QuantiTect SYBR Green Assays in human, mouse, rat SATB2
      QuantiFast Probe-based Assays in human, mouse, rat SATB2

    Additional mRNA sequence: 

    AB028957.1 AB209376.1 AJ438951.1 AK056638.1 AK291463.1 BC098136.1 BC099723.1 BC103492.1 
    BC103500.1 

    12 DOTS entries:

    DT.445407  DT.40287310  DT.97797094  DT.120973476  DT.91847458  DT.91680592  DT.120973448  DT.40288837 
    DT.91680584  DT.100740362  DT.101954437  DT.40280118 

    Selected AceView cDNA sequences (see all 81):

    BM728545 AJ438951 BE700117 Z38456 AA514964 BE463679 AK056638 AL134607 
    AA306830 F12139 NM_015265 AB028957 AA416899 D81174 AI815411 AA436608 
    M85350 AA393182 F09776 CB146837 AK025127 BX505299 AV690384 BU568452 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SATB2 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
    SP1:        -                       -     -                                                               
    SP2:                                -     -                                                               
    SP3:                                -     -     -     -     -                                             
    SP4:                                      -                                                               
    SP5:                                -                                                                     


    ECgene alternative splicing isoforms for SATB2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SATB2 expression in normal human tissues (normalized intensities)      SATB2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAATCAACT
    SATB2 Expression
    About this image


    SATB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 17 entries
             Endochondral Preosteoblasts Caudal Endochondral Bones
             Rib
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 4 entries
             Mesencephalic Neural Crest Cells Prechordal Mesenchyme
             PureStem MEL2, NCr-fac Progenitor
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 3 entries
             Mesencephalic Neural Crest Cells Prechordal Mesenchyme
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
    SATB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SATB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.516617

    UniProtKB/Swiss-Prot: SATB2_HUMAN, Q9UPW6
    Tissue specificity: High expression in adult brain, moderate expression in fetal brain, and weak expression in
    adult liver, kidney, and spinal cord and in select brain regions, including amygdala, corpus callosum, caudate
    nucleus, and hippocampus

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SATB2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SATB2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Satb21 , 5 special AT-rich sequence binding protein 21, 5 92.41(n)1
    99.59(a)1
      1 (28.72 cM)5
    2127121  NM_139146.21  NP_631885.11 
     567939865 
    chicken
    (Gallus gallus)
    Aves SATB21 SATB homeobox 2 87.37(n)
    95.08(a)
      424063  NM_001199110.1  NP_001186039.1 
    lizard
    (Anolis carolinensis)
    Reptilia SATB26
    SATB homeobox 2
    89(a)
    1 ↔ 1
    GL343343.1(625007-798391)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia satb21 SATB homeobox 2 77.69(n)
    87.69(a)
      100494002  XM_002937713.2  XP_002937759.1 
    zebrafish
    (Danio rerio)
    Actinopterygii satb21 SATB homeobox 2 70.78(n)
    76.45(a)
      563435  NM_001128532.1  NP_001122004.1 


    ENSEMBL Gene Tree for SATB2 (if available)
    TreeFam Gene Tree for SATB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SATB2 gene
    SATB12  
    1 SIMAP similar gene for SATB2 using alignment to 4 protein entries:     SATB2_HUMAN (see all proteins):
    SATB1

    SATB2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SATB2 (see all 3117)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs710158891,2
    C--191998716(+) TATGT-/ATGTGTG 3 -- int11Minor allele frequency- AT:0.00NA 2
    rs2009000201,2
    --192003607(+) AAAAA-/AGTATCA 3 -- int10--------
    rs1442393651,2
    C--192014164(+) AAACA-/AACT  
            
    AACAA
    3 -- int10--------
    rs720809881,2
    C--192014167(+) CAAAC-/TAAC  
            
    AAACA
    3 -- int10--------
    rs729294361,2
    C--192014167(+) CAAACA/TAACAA 3 -- int10--------
    rs1998161641,2
    C--192046900(-) CGTCTC/TTNNNN 3 -- int10--------
    rs1392207461,2
    C--192058429(+) TAGTT-/TATC  
            
    TATTA
    3 -- int10--------
    rs2000606651,2
    C--192058432(+) TTTATC/TTATTA 3 -- int10--------
    rs114095571,2
    C--192073775(+) AAAAA-/A/CGGACA 3 -- int11NA 2
    rs2014415421,2
    C--192084366(+) ACACAA/CACACA 3 -- int10--------

    HapMap Linkage Disequilibrium report for SATB2 (200134223 - 200335989 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SATB2 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670764CNV Deletion23128226
    esv2661101CNV Deletion23128226
    esv2721353CNV Deletion23290073
    esv993308CNV Deletion20482838
    esv1009594CNV Deletion20482838
    esv2721352CNV Deletion23290073
    esv2572304CNV Deletion19546169
    esv4682CNV Deletion18987735
    esv2110977CNV Deletion18987734
    nsv3104CNV Insertion18451855

    Human Gene Mutation Database (HGMD): SATB2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SATB2
    DNA2.0 Custom Variant and Variant Library Synthesis for SATB2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608148   
    OMIM disorders: 119540  
    UniProtKB/Swiss-Prot: SATB2_HUMAN, Q9UPW6
  • Note=Chromosomal aberrations involving SATB2 are found in isolated cleft palate. Translocation t(2;7);
    translocation t(2;11)
  • Cleft palate isolated (CPI) [MIM:119540]: A congenital fissure of the soft and/or hard palate, due to
    faulty fusion. Isolated cleft palate is not associated with cleft lips. Some patients may manifest other
    craniofacial dysmorphic features, mental retardation, and osteoporosis. Note=The disease may be caused by
    mutations affecting the gene represented in this entry
  • Note=A chromosomal aberration involving SATB2 is found in a patient with classical features of
    Toriello-Carey syndrome. Translocation t(2;14)(q33;q22)

  • Selected diseases for SATB2 (see all 24):    About MalaCards
    2q32q33 microdeletion syndrome    2q33.1 microdeletion syndrome    toriello carey syndrome    cleft palate and mental retardation
    listeria meningitis    cerebellar disease    cleft palate, isolated    cleft palate
    herpes zoster    primary pulmonary hypertension    mental retardation    meningitis
    laryngeal carcinoma    cleft lip    osteoporosis    laryngitis
    hypertension    ulcerative colitis    cerebritis    cervicitis

    1 disease from the University of Copenhagen DISEASES database for SATB2:
    Cleft palate

    SATB2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SATB2
    Human Genome Epidemiology (HuGE) Navigator: SATB2 (4 documents)

    Export disorders for SATB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SATB2 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with SATB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of SATB2 as the cleft palate gene on 2q32-q33. (PubMed id 12915443)1, 2, 9 FitzPatrick D.R.... Bonthron D.T. (Hum. Mol. Genet. 2003)
    2. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    3. Genome-wide association identifies multiple ulcerative colitis susceptibility loci. (PubMed id 20228799)1, 4 McGovern D.P....Seielstad M. (Nat. Genet. 2010)
    4. Testing reported associations of genetic risk factors for oral clefts in a large Irish study population. (PubMed id 19937600)1, 4 Carter T.C....Mills J.L. (Birth Defects Res. Part A Clin. Mol. Teratol. 2010)
    5. Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. (PubMed id 17377962)1, 2 Leoyklang P.... Shotelersuk V. (Hum. Mutat. 2007)
    6. Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations. (PubMed id 16953426)1, 4 Beaty T.H....Scott A.F. (Hum. Genet. 2006)
    7. Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate. (PubMed id 16327884)1, 4 Vieira A.R.... Murray J.C. (PLoS Genet. 2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression. (PubMed id 14701874)1, 2 Dobreva G.... Grosschedl R. (Genes Dev. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23314 HGNC: 21637 AceView: SATB2 Ensembl:ENSG00000119042 euGenes: HUgn23314
    ECgene: SATB2 H-InvDB: SATB2

    (According to HUGE)
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    HUGE: KIAA1034

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SATB2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SATB2 gene:
    Search GeneIP for patents involving SATB2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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