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Satb2
Gene Detail
Symbol

Name
ID
Satb2
special AT-rich sequence binding protein 2
MGI:2679336
Synonyms
mKIAA1034
Feature Type
protein coding gene
Genetic Map
Chromosome 1
28.72 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr1:56793981-56978650 bp, - strand
From VEGA annotation of GRCm38

  184670 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32249  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Satb2

Human
homologs
Human Homolog SATB2, SATB homeobox 2
NCBI Gene ID 23314
neXtProt AC  NX_Q9UPW6
Human Synonyms  GLSS
Human Chr (Location)  2q33; chr2:199269500-199471266 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human SATB2
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Gene trapped(2) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous inactivation of this gene causes complete perinatal lethality and craniofacial anomalies, such as cleft palate, micrognathia, microcephaly, decreased tongue size, absent incisors and nasal capsule hypoplasia, and leads to short limbs and defects in osteoblast differentiation and function.
 
Alleles Annotated to Human Diseases(1)   
Interactions
Satb2 interacts with 439 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (32 annotations)
Process cartilage development, cellular response to organic substance, ...
Component cytoplasm, histone deacetylase complex, ...
Function chromatin binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (85 records)
Data Summary: Results (387)    Tissues (149)    Images (81)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 1
RNA in situ 372
RT-PCR 14
cDNA source data(27)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(35) cDNA(27) Primer pair(8)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000023028 (Evidence)
Ensembl Gene ModelENSMUSG00000038331 (Evidence)
Entrez Gene212712 (Evidence)
UniGene145599
NIA Mouse Gene IndexU021346
Consensus CDS ProjectCCDS14965.1
International Mouse Knockout Project StatusSatb2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023028 VEGA Gene Model | MGI Sequence Detail 184670 C57BL/6J ±  kb
transcript OTTMUST00000055482 VEGA | MGI Sequence Detail 5805 Not Applicable 
polypeptide OTTMUSP00000026565 VEGA | MGI Sequence Detail 733 Not Applicable 

For the selected sequences
All sequences(46) RefSeq(8) UniProt(5)
Polymorphisms
SNPs within 2kb(1034 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001356 Homeodomain
InterPro IPR009057 Homeodomain-like
InterPro IPR003350 Homeodomain protein CUT
InterPro IPR010982 Lambda repressor-like, DNA-binding domain
Protein Ontology PR:000014469 DNA-binding protein SATB2
References
(Earliest) J:85953 FitzPatrick DR, et al., Identification of SATB2 as the cleft palate gene on 2q32-q33. Hum Mol Genet. 2003 Oct 1;12(19):2491-501
(Latest) J:208651 Louvi A, et al., Ccm3, a gene associated with cerebral cavernous malformations, is required for neuronal migration. Development. 2014 Mar;141(6):1404-15
All references(113)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory