SATB2
entrez
23314
canonical
uniprot
Q9UPW6
canonical
ensembl
ENSG00000119042
resolver
ensp
ENSP00000260926
resolver
ensp
ENSP00000401112
resolver
ensp
ENSP00000405420
resolver
ensp
ENSP00000578838
resolver
genesymbol
SATB2
resolver
genesymbol_syn
KIAA1034
resolver
hgnc
HGNC:21637
resolver
uniprot
A8K5Z8
resolver
uniprot
B3KPQ9
resolver
uniprot
Q3ZB87
resolver
uniprot
Q4V763
resolver
uniprot
Q59FT3
resolver
uniprot_entry
B3KPQ9_HUMAN
resolver
uniprot_entry
Q59FT3_HUMAN
resolver
uniprot_entry
SATB2_HUMAN
resolver
uniprot_sec
A8K5Z8
resolver
uniprot_sec
Q3ZB87
resolver
uniprot_sec
Q4V763
resolver
amino_acid_sequence
MERRSESPCLRDSPDRRSGSPDVKGPPPVKVARLEQNGSPMGARGRPNGAVAKAVGGLMIPVFCVVEQLDGSLEYDNREEHAEFVLVRKDVLFSQLVETALLALGYSHSSAAQAQGIIKLGRWNPLPLSYVTDAPDATVADMLQDVYHVVTLKIQLQSCSKLEDLPAEQWNHATVRNALKELLKEMNQSTLAKECPLSQSMISSIVNSTYYANVSATKCQEFGRWYKKYKKIKVERVERENLSDYCVLGQRPMHLPNMNQLASLGKTNEQSPHSQIHHSTPIRNQVPALQPIMSPGLLSPQLSPQLVRQQIAMAHLINQQIAVSRLLAHQHPQAINQQFLNHPPIPRAVKPEPTNSSVEVSPDIYQQVRDELKRASVSQAVFARVAFNRTQGLLSEILRKEEDPRTASQSLLVNLRAMQNFLNLPEVERDRIYQDERERSMNPNVSMVSSASSSPSSSRTPQAKTSTPTTDLPIKVDGANINITAAIYDEIQQEMKRAKVSQALFAKVAANKSQGWLCELLRWKENPSPENRTLWENLCTIRRFLNLPQHERDVIYEEESRHHHSERMQHVVQLPPEPVQVLHRQQSQPAKESSPPREEAPPPPPPTEDSCAKKPRSRTKISLEALGILQSFIHDVGLYPDQEAIHTLSAQLDLPKHTIIKFFQNQRYHVKHHGKLKEHLGSAVDVAEYKDEELLTESEENDSEEGSEEMYKVEAEEENADKSKAAPAEIDQR
uniprot
proteins
disease_involvement
DISEASE: Note=Chromosomal aberrations involving SATB2 are found in isolated cleft palate. Translocation t(2;7); translocation t(2;11). {ECO:0000269|PubMed:12915443}.; DISEASE: 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, intellectual disability, and osteoporosis. {ECO:0000269|PubMed:12915443, ECO:0000269|PubMed:17377962}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration involving SATB2 is found in a patient with classical features of Toriello-Carey syndrome. Translocation t(2;14)(q33;q22). {ECO:0000269|PubMed:19170718}.
uniprot
proteins
function
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. {ECO:0000269|PubMed:14701874}.
uniprot
proteins
mass_dalton
82555
uniprot
proteins
mutagenesis
MUTAGEN 233; /note="K->R: Reduced sumoylation, impaired nuclear localization, but enhanced transcription factor activity."; /evidence="ECO:0000269|PubMed:14701874"; MUTAGEN 350; /note="K->R: Reduced sumoylation, impaired nuclear localization, but enhanced transcription factor activity."; /evidence="ECO:0000269|PubMed:14701874
uniprot
proteins
post_translational_modification
PTM: Sumoylated by PIAS1. Sumoylation promotes nuclear localization, but represses transcription factor activity. {ECO:0000269|PubMed:14701874}.
uniprot
proteins
protein_family
CUT homeobox family
uniprot
proteins
pubmed
10470851
uniprot
proteins
pubmed
12915443
uniprot
proteins
pubmed
14701874
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17377962
uniprot
proteins
pubmed
19170718
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
28112733
uniprot
proteins
sequence_length
733
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus matrix {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00374, ECO:0000269|PubMed:14701874}.
uniprot
proteins