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

SATB2 Gene

protein-coding   GIFtS: 61
GCID: GC02M200098

SATB Homeobox 2

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

Aliases
for SATB2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
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


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 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 2q33.1 microdeletion syndrome, and toriello carey 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


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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for SATB2 at MOPED 

Post-translational modifications:

  • UniProtKB: Sumoylated by PIAS1. Sumoylation promotes nuclear localization, but represses transcription factor activity
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UPW6

    • SATB2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SATB2 Protein Expression
    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 for SATB2: 
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    OriGene Protein Over-expression Lysate for SATB2
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    Novus Biologicals SATB2 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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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    Novus Biologicals SATB2 Antibodies
    Abcam antibodies for SATB2
    Cloud-Clone Corp. Antibodies for SATB2 
    ThermoFisher Antibodies for SATB2
    LSBio Antibodies in human, mouse, rat for SATB2 

    Assay Products for SATB2: 
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    Cloud-Clone Corp. ELISAs for SATB2 
    Cloud-Clone Corp. CLIAs for SATB2

    Protein Domains /
    Families
    for SATB2 gene

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

    4 InterPro protein domains:
     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 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


    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, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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 (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 IPI--
    GO:0043565sequence-specific DNA binding IEA--
         
    SATB2 for ontologies           About GeneDecksing


    Phenotypes:
         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

    Animal Models:
         Mouse knock-out Satb2tm1Rug for SATB2
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SATB2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SATB2

    miRNA
    Products:        
    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 RNAi products in human, mouse, rat for SATB2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SATB2
    Sirion Biotech Custom design and validation of potent shRNA sequences against SATB2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SATB2
    Sirion Biotech Customized adenovirus for overexpression of SATB2
                         Customized adenovirus for potent knockdown of SATB2

    Clone
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    OriGene clones in human, mouse for SATB2 (see all 11)
    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)
    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
    Products:             		GenScript Custom overexpressing Cell Line Services for SATB2
    LifeMap BioReagents: cell line associated with SATB2: PureStem MEL2, NCr-fac Progenitor
    Sirion Biotech Customized stable knockdown cell line services for SATB2
                         Customized inducible knockdown cell line services for SATB2
                         Customized stable overexpressing cell line services for SATB2
                         Customized inducible overexpressing cell line services for SATB2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SATB2


    Pathways & Interactions
    for SATB2 gene

    (Pathways according to EMD Millipore, 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 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 Oct 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): 5/13 biological process terms (GO ID links to tree view) (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-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, IUPHAR, 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 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, 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
    Products:         
    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 RNAi products in human, mouse, rat for SATB2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SATB2
    Sirion Biotech Custom design and validation of potent shRNA sequences against SATB2
    Clone
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    OriGene ORF clones in mouse, rat for SATB2
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    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 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 

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

    AK056638 F12139 AB028957 AJ438951 BE700117 AA514964 Z38456 NM_015265 
    AA306830 BM728545 BE463679 AL134607 F09785 AA534831 AA416899 CB114609 
    BU742565 BG939156 BX477946 BX505299 F05472 BU568452 AA393182 BX477950 

    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)      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 
     5/14 selected tissues (see all 14) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 35 entries
             Endochondral Osteoblasts Rostral Endochondral Facial Bones
             Thoracic Rib
             "PureStem MEL2, NCr-fac Progenitor"
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             skeleton/pelvic girdle
     
     Brain (Nervous System)    fully expand to see all 22 entries
             Thalamus
             Olfactory Bulb
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             Interzone Cells Stylopod Synovial Joint
             "PureStem MEL2, NCr-fac Progenitor"
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             skeleton/pelvic girdle
     
     Spinal Cord (Nervous System)    fully expand to see all 5 entries
             Dorsal Horn
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 4 entries
             Cranial Neural Crest Cells Branchial Arch 1
             skeleton/cranium/viscerocranium

    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

        SABiosciences Custom PCR Arrays for SATB2
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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 4/10 species (see all 10)    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 87.82(n)
    95.9(a)    		   424063  NM_001199110.1  NP_001186039.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SATB26
    		 Uncharacterized protein
    		 89(a)
    		 1 ↔ 1
    		 GL343343.1(625007-798391)
    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, 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) 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

    10/3117 SNPs in SATB2 are shown (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) 10/16 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
    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, Conferences by KenesGroup, 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)
  • 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)

    17 diseases for SATB2:    About MalaCards
    2q33.1 microdeletion syndrome    toriello carey syndrome    2q32q33 microdeletion syndrome    cleft palate and mental retardation
    cleft palate, isolated    listeria meningitis    cleft palate    cerebellar disease
    herpes zoster    primary pulmonary hypertension    meningitis    mental retardation
    cleft lip    hypertension    cerebritis    squamous cell 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 29):
    (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. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    3. Genome-wide association identifies multiple ulcerativ e colitis susceptibility loci. (PubMed id 20228799)1, 4 McGovern D.P....Weersma R.K. (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. (2010)
    5. Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. (PubMed id 17377962)1, 2 Leoyklang P.... Shotelersuk V. (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. (2006)
    7. Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate. (PubMed id 16327884)1, 4 Vieira A.R.... Murray J.C. (2005)
    8. 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)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2003)

    External Searches for SATB2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    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
    for SATB2 gene

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    About This Section

     
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     Proteins for SATB2
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     Cell Line associated with SATB2: PureStem MEL2, NCr-fac Progenitor
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013

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