Gene Gene information from NCBI Gene database.
Entrez ID 23314
Gene name SATB homeobox 2
Gene symbol SATB2
Synonyms (NCBI Gene)
C2DELq32q33DEL2Q32Q33GLSS
Chromosome 2
Chromosome location 2q33.1
Summary 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
SNPs SNP information provided by dbSNP.
71
SNP ID Visualize variation Clinical significance Consequence
rs137853127 G>A Pathogenic Stop gained, coding sequence variant, genic downstream transcript variant
rs797044874 G>A Pathogenic Coding sequence variant, stop gained, genic downstream transcript variant
rs863224917 G>A Likely-pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs875989830 AC>- Pathogenic Frameshift variant, coding sequence variant, genic downstream transcript variant
rs878853163 T>A,C Pathogenic Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
371
miRTarBase ID miRNA Experiments Reference
MIRT006567 hsa-miR-31-5p Luciferase reporter assay 20980827
MIRT006567 hsa-miR-31-5p Luciferase reporter assay 20980827
MIRT025532 hsa-miR-34a-5p Sequencing 20371350
MIRT026761 hsa-miR-192-5p Microarray 19074876
MIRT045505 hsa-miR-149-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 22825848
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608148 21637 ENSG00000119042
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UPW6
Protein name DNA-binding protein SATB2 (Special AT-rich sequence-binding protein 2)
Protein 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)
PDB 1WI3 , 1WIZ , 2CSF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16534 ULD 58 156 Ubiquitin-like oligomerisation domain of SATB Domain
PF16557 CUTL 162 233 CUT1-like DNA-binding domain of SATB Domain
PF02376 CUT 355 434 CUT domain Domain
PF02376 CUT 478 557 CUT domain Domain
PF00046 Homeodomain 615 672 Homeodomain Domain
Tissue specificity 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:00
Sequence
MERRSESPCLRDSPDRRSGSPDVKGPPPVKVARLEQNGSPMGARGRPNGAVAKAVGGLMI
PVFCVVEQLDGSLEYDNREEHAEFVLVRKDVLFSQLVETALLALGYSHSSAAQAQGIIKL
GRWNPLPLSYVTDAPDATVADMLQDVYHVVTLKIQL
QSCSKLEDLPAEQWNHATVRNALK
ELLKEMNQSTLAKECPLSQSMISSIVNSTYYANVSATKCQEFGRWYKKYKKIK
VERVERE
NLSDYCVLGQRPMHLPNMNQLASLGKTNEQSPHSQIHHSTPIRNQVPALQPIMSPGLLSP
QLSPQLVRQQIAMAHLINQQIAVSRLLAHQHPQAINQQFLNHPPIPRAVKPEPTNSSVEV
SPDIYQQVRDELKRASVSQAVFARVAFNRTQGLLSEILRKEEDPRTASQSLLVNLRAMQN
FLNLPEVERDRIYQ
DERERSMNPNVSMVSSASSSPSSSRTPQAKTSTPTTDLPIKVDGAN
INITAAIYDEIQQEMKRAKVSQALFAKVAANKSQGWLCELLRWKENPSPENRTLWENLCT
IRRFLNLPQHERDVIYE
EESRHHHSERMQHVVQLPPEPVQVLHRQQSQPAKESSPPREEA
PPPPPPTEDSCAKKPRSRTKISLEALGILQSFIHDVGLYPDQEAIHTLSAQLDLPKHTII
KFFQNQRYHVKH
HGKLKEHLGSAVDVAEYKDEELLTESEENDSEEGSEEMYKVEAEEENA
DKSKAAPAEIDQR
Sequence length 733
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    SUMOylation of chromatin organization proteins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
711
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely pathogenic rs1692190479 RCV001291383
Cerebellar ataxia Pathogenic rs2105707111 RCV001526525
Chromosome 2q32-q33 deletion syndrome Likely pathogenic; Pathogenic rs1688103803, rs1688726794, rs2105822776, rs2105795469, rs1223371144, rs2105822848, rs2105957137, rs2105768966, rs2105769270, rs1688108689, rs1559052017, rs2105928888, rs2105865785, rs2105865877, rs2105928782
View all (81 more)
RCV001334830
RCV001334829
RCV001375953
RCV001542466
RCV003120634
RCV001754576
RCV001775295
RCV001784934
RCV005603736
RCV001843742
RCV002000226
RCV001994824
RCV001922874
RCV001882983
RCV001953620
RCV002052116
RCV002052239
RCV002289223
RCV000002627
RCV004785737
RCV002505915
RCV002505916
RCV002505918
RCV002505919
RCV002505920
RCV002505921
RCV002505922
RCV002505923
RCV002505924
RCV002651587
RCV000686152
RCV002904433
RCV000199456
RCV000202349
RCV003014695
RCV000209866
RCV000224980
RCV003149144
RCV003326674
RCV003152956
RCV003224963
RCV000763469
RCV000708556
RCV003229518
RCV003233436
RCV003317025
RCV003322652
RCV003326198
RCV003333464
RCV003741349
RCV003457218
RCV003489419
RCV003741664
RCV003741835
RCV003741870
RCV003742050
RCV003742195
RCV003742375
RCV003883377
RCV003988174
RCV003990136
RCV004556990
RCV004595235
RCV000824998
RCV000656508
RCV000656509
RCV000496200
RCV000502290
RCV000533352
RCV004798848
RCV000680089
RCV000656510
RCV005410913
RCV000695069
RCV000760227
RCV006449278
RCV005628272
RCV000820157
RCV000813421
RCV000824685
RCV000825003
RCV000851499
RCV000986969
RCV000986970
RCV000995630
RCV000995631
RCV000995632
RCV001029964
RCV001042546
RCV001052478
RCV001196840
RCV001196457
RCV001231584
RCV001249707
RCV001249683
RCV001249671
RCV001253197
RCV001310250
Cleft palate Pathogenic rs137853127 RCV001261363
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign; Likely benign rs2011269, rs199978702 RCV005923416
RCV005870820
Clear cell carcinoma of kidney Benign; Likely benign rs141436870 RCV005896867
Gastric cancer Benign rs2011269, rs555268633 RCV005923415
RCV005868643
Global developmental delay Uncertain significance rs2105769188 RCV001527649
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achard syndrome Associate 21343628
Adenocarcinoma Mucinous Associate 30962505, 36351995
Adenocarcinoma of Lung Associate 34550610, 37107669, 37349623
Adenoma Associate 35917493
Adenomyoma Associate 33459390
Anodontia Associate 25118029
Aphasia Conduction Associate 25118029, 27409069, 34241948, 40225157, 40474278
Appendiceal Neoplasms Associate 31233624
Arthritis Juvenile Associate 30013183
Ascending aortic aneurysm hypertelorism bifid uvula cleft palate and arterial tortuosity Associate 40474278