Gene: Satb2

Basic information

Tag Content
Uniprot ID Q8VI24
Entrez ID 212712
Genbank protein ID BAC98080.1; AAL37172.1;
Genbank nucleotide ID XM_017319630.1; NM_139146.2; XM_017319631.1;
Ensembl protein ID ENSMUSP00000110057; ENSMUSP00000046067;
Ensembl nucleotide ID ENSMUSG00000038331
Gene name DNA-binding protein SATB2
Gene symbol Satb2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E12.5, E14.25, E13.5, E14.5, E16.5
Data sources Manually collected
Reference 16960803; 16751105;
Functional description 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.
Sequence
MERRSESPCL RDSPDRRSGS PDVKGPPPVK VARLEQNGSP MGARGRPNGA VAKAVGGLMI 60
PVFCVVEQLD GSLEYDNREE HAEFVLVRKD VLFSQLVETA LLALGYSHSS AAQAQGIIKL 120
GRWNPLPLSY VTDAPDATVA DMLQDVYHVV TLKIQLQSCS KLEDLPAEQW NHATVRNALK 180
ELLKEMNQST LAKECPLSQS MISSIVNSTY YANVSATKCQ EFGRWYKKYK KIKVERVERE 240
NLSDYCVLGQ RPMHLPNMNQ LASLGKTNEQ SPHSQIHHST PIRNQVPALQ PIMSPGLLSP 300
QLSPQLVRQQ IAMAHLINQQ IAVSRLLAHQ HPQAINQQFL NHPPIPRAVK PEPTNSSVEV 360
SPDIYQQVRD ELKRASVSQA VFARVAFNRT QGLLSEILRK EEDPRTASQS LLVNLRAMQN 420
FLNLPEVERD RIYQDERERS MNPNVSMVSS ASSSPSSSRT PQAKTSTPTT DLPIKVDGAN 480
VNITAAIYDE IQQEMKRAKV SQALFAKVAA NKSQGWLCEL LRWKENPSPE NRTLWENLCT 540
IRRFLNLPQH ERDVIYEEES RHHHSERMQH VVQLPPEPVQ VLHRQQSQPT KESSPPREEA 600
PPPPPPTEDS CAKKPRSRTK ISLEALGILQ SFIHDVGLYP DQEAIHTLSA QLDLPKHTII 660
KFFQNQRYHV KHHGKLKEHL GSAVDVAEYK DEELLTESEE NDSEEGSEEM YKVEAEEENA 720
DKSKAAPAET DQR 733

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologSATB2102171018A0A452FN88Capra hircusPredictionMore>>
1:1 orthologSATB223314Q9UPW6Homo sapiensPublicationMore>>
1:1 orthologSatb2212712Q8VI24CPOE12.5, E14.25, E13.5, E14.5, E16.5Mus musculusPublicationMore>>
1:1 orthologSATB2459856A0A2I3SX19Pan troglodytesPredictionMore>>
1:1 orthologSATB2I3LRU7Sus scrofaPredictionMore>>
1:1 orthologSATB2100351405G1SXR2Oryctolagus cuniculusPredictionMore>>
1:1 orthologSatb2501145D3ZJ19Rattus norvegicusPredictionMore>>
1:1 orthologsatb2563435A8WIP9Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
SATB2p.Arg239* and p.Asp702Thrfs*38 (compund heterozygous)Direct sequencing; TDT30848049
SATB2c.1285G>A; p.R429*Direct sequencing; TDT29739092
SATB2rs994185Genotyping16641627

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA bindingIDA
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA bindingIBA
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA bindingIDA
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specificIC
GO:0003682 chromatin bindingIDA
GO:0005515 protein bindingIPI
GO:0043565 sequence-specific DNA bindingIGI

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIMP
GO:0000122 negative regulation of transcription by RNA polymerase IIIBA
GO:0001764 neuron migrationIMP
GO:0002076 osteoblast developmentIGI
GO:0002076 osteoblast developmentIMP
GO:0006338 chromatin remodelingIDA
GO:0006338 chromatin remodelingIBA
GO:0006357 regulation of transcription by RNA polymerase IIIBA
GO:0009880 embryonic pattern specificationIMP
GO:0010468 regulation of gene expressionIMP
GO:0021902 commitment of neuronal cell to specific neuron type in forebrainIGI
GO:0021902 commitment of neuronal cell to specific neuron type in forebrainIMP
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIGI
GO:0048704 embryonic skeletal system morphogenesisIMP
GO:0051216 cartilage developmentIMP
GO:0060021 roof of mouth developmentIMP
GO:0071310 cellular response to organic substanceIDA

GO:Cellular Component

GO ID GO Term Evidence
GO:0000118 histone deacetylase complexIDA
GO:0000790 nuclear chromatinIC
GO:0005634 nucleusIDA
GO:0005634 nucleusISO
GO:0005634 nucleusIBA
GO:0005654 nucleoplasmISO
GO:0005654 nucleoplasmTAS
GO:0005667 transcription factor complexIDA
GO:0016363 nuclear matrixIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-2990846 SUMOylationIEA
R-MMU-3108232 SUMO E3 ligases SUMOylate target proteinsIEA
R-MMU-392499 Metabolism of proteinsIEA
R-MMU-4551638 SUMOylation of chromatin organization proteinsIEA
R-MMU-597592 Post-translational protein modificationIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0156 Chromatin regulator
KW-0160 Chromosomal rearrangement
KW-0217 Developmental protein
KW-0238 DNA-binding
KW-0371 Homeobox
KW-1017 Isopeptide bond
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0677 Repeat
KW-0678 Repressor
KW-0804 Transcription
KW-0805 Transcription regulation
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR003350 CUT_dom
IPR032355 CUTL
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR010982 Lambda_DNA-bd_dom_sf
IPR039673 SATB1/SATB2
IPR038216 SATB_CUTL_sf
IPR038224 SATB_ULD_sf
IPR032392 ULD

PROSITE

PROSITE ID PROSITE Term
PS51042 CUT
PS50071 HOMEOBOX_2

Pfam

Pfam ID Pfam Term
PF02376 CUT
PF16557 CUTL
PF00046 Homeodomain
PF16534 ULD

Protein-protein interaction

Protein-miRNA interaction