• Gene id: 23314

Gene Summary

• Gene Symbol: SATB2   Gene   UCSC   Ensembl
• Aliases: GLSS
• Gene name: SATB homeobox 2
• Alternate names: DNA-binding protein SATB2, SATB family member 2, special AT-rich sequence-binding protein 2,
• Gene location: 2q33.1 (199471265: 199269499)     Exons: 18     NC_000002.12
• Gene summary(Entrez): 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 cog
• OMIM: 609157

Protein Summary

• Protein general information: Q9UPW6  
  • Name: DNA binding protein SATB2 (Special AT rich sequence binding protein 2)
  • Length: 733  
  • Mass: 82555
  • 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. {ECO
• Sequence:

  MERRSESPCLRDSPDRRSGSPDVKGPPPVKVARLEQNGSPMGARGRPNGAVAKAVGGLMIPVFCVVEQLDGSLEY
  DNREEHAEFVLVRKDVLFSQLVETALLALGYSHSSAAQAQGIIKLGRWNPLPLSYVTDAPDATVADMLQDVYHVV
  TLKIQLQSCSKLEDLPAEQWNHATVRNALKELLKEMNQSTLAKECPLSQSMISSIVNSTYYANVSATKCQEFGRW
  YKKYKKIKVERVERENLSDYCVLGQRPMHLPNMNQLASLGKTNEQSPHSQIHHSTPIRNQVPALQPIMSPGLLSP
  QLSPQLVRQQIAMAHLINQQIAVSRLLAHQHPQAINQQFLNHPPIPRAVKPEPTNSSVEVSPDIYQQVRDELKRA
  SVSQAVFARVAFNRTQGLLSEILRKEEDPRTASQSLLVNLRAMQNFLNLPEVERDRIYQDERERSMNPNVSMVSS
  ASSSPSSSRTPQAKTSTPTTDLPIKVDGANINITAAIYDEIQQEMKRAKVSQALFAKVAANKSQGWLCELLRWKE
  NPSPENRTLWENLCTIRRFLNLPQHERDVIYEEESRHHHSERMQHVVQLPPEPVQVLHRQQSQPAKESSPPREEA
  PPPPPPTEDSCAKKPRSRTKISLEALGILQSFIHDVGLYPDQEAIHTLSAQLDLPKHTIIKFFQNQRYHVKHHGK
  LKEHLGSAVDVAEYKDEELLTESEENDSEEGSEEMYKVEAEEENADKSKAAPAEIDQR

• Structural information:
  • Interpro: IPR003350  IPR032355  IPR009057  IPR001356  IPR010982   IPR039673  IPR038216  IPR038224  IPR032392  
  • Prosite: PS51042 PS50071
  • CDD: cd00086 cd11585
  • PDB: 1WI3 1WIZ 2CSF
  • PDBsum: 1WI3 1WIZ 2CSF
  • DIP: 60551
  • STRING: ENSP00000401112
• Other Databases: GeneCards:  SATB2  Malacards:  SATB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006338	chromatin remodeling	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006338	chromatin remodeling	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071310	cellular response to organic substance	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0001764	neuron migration	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000118	histone deacetylase complex	IEA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0060021	roof of mouth development	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0021902	commitment of neuronal cell to specific neuron type in forebrain	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0009880	embryonic pattern specification	IEA	biological process
GO:0006338	chromatin remodeling	IEA	biological process
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0002076	osteoblast development	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0016363	nuclear matrix	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Glass syndrome	KEGG:H02146
Glass syndrome	KEGG:H02146
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq