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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SATB2 Gene

protein-coding   GIFtS: 60
GCID: GC02M200098

SATB homeobox 2

(Previous name: SATB family member 2 )
 Explore 19 diseases affiliated with
SATB2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SATB2    

Aliases
for SATB2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SATB Homeobox 21 2
KIAA10341 3 5
SATB Family Member 21 2
Special AT-Rich Sequence-Binding Protein 22 3
FLJ214741
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


Summaries
for SATB2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SATB2:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences 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 plasmid: SATB2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SATB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SATB2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Nucleus matrix
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

Post-translational modifications:

  • Sumoylated by PIAS1. Sumoylation promotes nuclear localization, but represses transcription factor activity1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UPW6

    • SATB2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000401112   ENSP00000388764   ENSP00000260926   ENSP00000388581   ENSP00000405420  
     ENSP00000415610  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: SATB2
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    Novus Biologicals SATB2 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SATB2

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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



    SATB2 Antibody Products: 
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    Uscn Antibodies for SATB2
    ThermoFisher Antibodies for SATB2

    Assay Products for SATB2: 
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    Uscn ELISAs and CLIAs for SATB2

    Protein Domains /
    Families
    for SATB2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SATB2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR003350 Hmoeo_CUT
     IPR001356 Homeodomain
     IPR010982 Lambda_DNA-bd_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q9UPW6

    ProtoNet protein and cluster: Q9UPW6

    1 Blocks protein family: 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


    Function
    for SATB2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SATB2
    8/104 QIAGEN miScript miRNA 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 plasmid: SATB2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SATB2 (see all 7)
    OriGene shRNA RFP: SATB2
    OriGene siRNA: SATB2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SATB2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SATB2

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SATB2 (see all 5)
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    Cell Line
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    LifeMap BioReagents: cell line associated with SATB2: PureStem MEL2, NCr-fac Progenitor

    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    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 ----
    GO:0043565sequence-specific DNA binding IEA--


    SATB2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Satb2tm1Rug for SATB2
         8 MGI mutant phenotypes (inferred from 2 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


    Pathways & Interactions
    for SATB2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SATB2

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

    5/42 Interacting proteins for SATB2 (Q9UPW62, 3 ENSP000002609264) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP63Q9H3D42, 3, ENSP000002647314MINT-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): 5/12 biological process terms (GO ID links to tree view) (see all 12):    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-dependent IEA--


    SATB2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SATB2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SATB2
    Search CenterWatch for drugs/clinical trials and news about SATB2 

    Transcripts
    for SATB2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SATB2
    8/104 QIAGEN miScript miRNA 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 plasmid: SATB2 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SATB2 (see all 7)
    OriGene shRNA RFP: SATB2
    OriGene siRNA: SATB2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SATB2
    Clone
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    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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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SATB2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SATB2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SATB2

    Additional cDNA 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 

    24/81 AceView cDNA sequences (see all 81):

    BE700117 AJ438951 Z38456 AA514964 AB028957 AL134607 BM728545 BE463679 
    AA306830 AK056638 NM_015265 F12139 AI815795 BX505299 CB146837 F05472 
    CB115176 AI815411 AA436608 BU568452 BX477946 AL120001 AV708142 F12148 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for SATB2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SATB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAATCAACT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SATB2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/40 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 40) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneCaudal Endochondral BonesEndochondral OsteoblastsBone
    BoneCaudal Endochondral BonesEndochondral PreosteoblastsBone
    BoneEndochondral Facial BonesEndochondral OsteoblastsBone
    BoneEndochondral Facial BonesEndochondral PreosteoblastsBone
    BoneMembranous Facial BonesIntramembranous OsteoblastsBone
    BoneMembranous Facial BonesIntramembranous PreosteoblastsBone
    BoneRostral Endochondral Facial BonesEndochondral OsteoblastsBone
    BoneRostral Endochondral Facial BonesEndochondral PreosteoblastsBone
    BoneRostral Skull Membranous BonesIntramembranous OsteoblastsBone
    BoneRostral Skull Membranous BonesIntramembranous PreosteoblastsBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    HyStem+BMP4-induced MEL2 cells (HyStem+BMP4 inductio...)Bone
    HyStem+TGF?3+GDF5-induced MEL2 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage

    See SATB2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SATB2

    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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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SATB2
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SATB2

    Orthologs
    for SATB2 gene

    (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)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for SATB2 gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SATB21 SATB homeobox 2 87.82(n)
    95.9(a)    		   424063  NM_001199110.1  NP_001186039.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SATB26
    		 --
    		 90(a)
    		 1 ↔ 1
    		 GL343343.1(639044-795725)
    zebrafish
    (Danio rerio)    		 Actinopterygii satb21 SATB homeobox 2 70.68(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
    for SATB2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for SATB2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2581 NCBI SNPs in SATB2 are shown (see all 2581)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs168311881,2
    		C,F,H,--191986718(+) AAAGAT/CTGGAT 3 -- ds50018Minor allele frequency- C:0.02NA NS EA WA 678
    rs121050151,2
    		C,F,H,--191986734(+) AAGTGA/GGCATG 3 -- ds500119Minor allele frequency- G:0.13NS EA WA NA 2344
    rs678820501,2
    		C--191987967(+) AAAAAA/-TCCAA 3 -- ut311Minor allele frequency- -:0.00NA 2
    rs1142420711,2
    		C,F,--191988409(+) GTGTAC/TGAAGA 3 -- ut311Minor allele frequency- T:0.11WA 118
    rs129936601,2
    		C,F,H--191989391(+) TGATCC/TAGTCA 3 -- ut31 ese36Minor allele frequency- T:0.01NS EA NA 408
    rs2018270021,2
    		C--191989525(+) AAAAAA/CAAAAC 3 -- ut310--------
    rs351160411,2
    		C--191989705(+) CTTTTG/CTCAGC 6 /D /E mis11Minor allele frequency- C:0.01NA 76
    rs101845891,2
    		H--191991172(+) CTTTGT/AAATTT 3 -- int14Minor allele frequency- A:0.00NS EA 418
    rs101845951,2
    		C,F,H,--191991190(+) TTTTTT/CCTCCT 3 -- int1 trp39Minor allele frequency- C:0.07NS EA NA CSA WA 676
    rs118941881,2
    		C,H,--191992290(+) AGGGAT/CGGGGG 3 -- int11Minor allele frequency- C:0.01WA 118

    HapMap Linkage Disequilibrium report for SATB2 (200134223 - 200335989 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 14 variations for SATB2
         4 CNVs: 90213 63275 38417 98102
         10 Indels: 78932 41952 61876 78933 12115 78930 45928 40407 90214 78931
    Human Gene Mutation Database (HGMD): SATB2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SATB2
    DNA2.0 Custom Variant and Variant Library Synthesis for SATB2

    Disorders / Diseases
    for SATB2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SATB2 for disorders           About GeneDecksing

    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)
  • Defects in SATB2 are a cause of 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=A chromosomal aberration involving SATB2 is found in a patient with classical features of Toriello-Carey
    • syndrome. Translocation t(2;14)(q33;q22)

    19 diseases for SATB2:    About MalaCards
    cleft palate and mental retardation    cleft palate    toriello carey syndrome    cleft lip/palate
    listeria meningitis    herpes zoster    cleft palate, isolated    cleft lip
    corpus callosum    primary pulmonary hypertension    pulmonary hypertension    meningitis
    cerebellar disease    squamous cell carcinoma    hypertension    osteoporosis
    cerebritis    carcinoma    neuronitis

    1 disease from the University of Copenhagen DISEASES database for SATB2:
    Cleft palate
    Genetic Association Database (GAD): SATB2
    Human Genome Epidemiology (HuGE) Navigator: SATB2 (4 documents)

    Export disorders for SATB2 gene to outside databases

    Publications
    for SATB2 gene

    (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)
    About This Section

    PubMed articles for SATB2 gene, integrated from 9 sources (see all 28):
    (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. (2003)
    2. Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate. (PubMed id 16327884)1, 4 Vieira A.R.... Murray J.C. (2005)
    3. 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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression. (PubMed id 14701874)1, 2 Dobreva G.... Grosschedl R. (2003)
    6. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2 Kikuno R....Ohara O. (1999)
    7. Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. (PubMed id 19170718)2, 9 Tegay D.H.... Hatchwell E. (2009)
    8. The AT-rich DNA-binding protein SATB2 promotes express ion and physical association of human (G)g- and (A)g-globin genes. (PubMed id 22825848)1 Zhou L.Q....Liu D.P. (2012)
    9. SATB2 participates in regulation of menadione-induced apoptotic insults to osteoblasts. (PubMed id 22570222)1 Wei J.D....Chen R.M. (2012)
    10. Case series: 2q33.1 microdeletion syndrome--further d elineation of the phenotype. (PubMed id 21343628)1 Balasubramanian M....Parker M.J. (2011)

    External Searches for SATB2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
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    OMIM
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    Genome Databases showing SATB2 gene

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

    Other Databases showing SATB2 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1034

    Specialized Databases showing SATB2 gene

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

    Intellectual Property
    for SATB2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
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    About This Section

     
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     SATB2 Proteins, Antibodies, CLIAs, and ELISAs
     Cell Line associated with SATB2: PureStem MEL2, NCr-fac Progenitor
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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