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Satb2 Gene Detail
Summary
  • Symbol
    Satb2
  • Name
    special AT-rich sequence binding protein 2
  • Synonyms
    mKIAA1034
  • Feature Type
    protein coding gene
  • IDs
    MGI:2679336
    NCBI Gene: 212712
Location & Maps
more
  • Sequence Map
    Chr1:56793981-56978650 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      184670 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SATB2, SATB homeobox 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SATB2, SATB homeobox 2
    Orthology source: HomoloGene
  • Synonyms
    GLSS
  • Links
    NCBI Gene ID: 23314
    neXtProt AC: NX_Q9UPW6

  • Chr Location
    2q33; chr2:199269500-199471266 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 32249
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: SATB2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Satb2 mouse models; 1 with human SATB2 associations

Human Disease Mouse Models
       Cleft Palate, Isolated; CPI   OMIM: 119540 View 1 model
       Glass Syndrome; GLASS   OMIM: 612313
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    42 phenotypes from 2 alleles in 2 genetic backgrounds
    5 phenotypes from multigenic genotypes
    21 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Radiation induced
    1
  • Targeted
    6
  • Genomic Mutations
    2 involving Satb2
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    1034 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 36
    cDNA 27
    Primer pair 9

    Microarray probesets 3
References
more
  • Summaries
    All 149
    Developmental Gene Expression 123
    Diseases 1
    Gene Ontology 8
    Phenotypes 21
  • 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:227000 Hsu LC, et al., Lhx2 regulates the timing of beta-catenin-dependent cortical neurogenesis. Proc Natl Acad Sci U S A. 2015 Sep 29;112(39):12199-204

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
02/02/2016
MGI 6.02
The Jackson Laboratory