Aliases for SATB2 Gene
Aliases for SATB2 Gene
External Ids for SATB2 Gene
- HGNC: 21637
- Entrez Gene: 23314
- Ensembl: ENSG00000119042
- OMIM: 608148
- UniProtKB: Q9UPW6
Previous GeneCards Identifiers for SATB2 Gene
- GC02M200098
- GC02M200336
- GC02M199959
- GC02M199842
- GC02M191986
Summaries for SATB2 Gene
-
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 mental retardation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010]
GeneCards Summary for SATB2 Gene
SATB2 (SATB Homeobox 2) is a Protein Coding gene. Diseases associated with SATB2 include Glass Syndrome and 2Q33.1 Microdeletion Syndrome. GO annotations related to this gene include sequence-specific DNA binding and chromatin binding. An important paralog of this gene is SATB1.
UniProtKB/Swiss-Prot for SATB2 Gene
-
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.
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SATB2 Gene
Genomics for SATB2 Gene
Regulatory Elements for SATB2 Gene
Enhancers for SATB2 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH02F198967 | 1.6 | ENCODE | 16.9 | +503.1 | 503089 | 2.3 | ZNF263 GATA3 ZNF341 FEZF1 ATF2 TCF7L2 | SATB2 GC02M198975 GC02P198955 |
| GH02F199430 | 1.1 | Ensembl ENCODE | 12.4 | +38.6 | 38643 | 3.4 | PKNOX1 FEZF1 ETS1 FOS ZNF362 ZEB2 ZNF843 SMARCA4 PBX2 IKZF1 | SATB2 SPATS2L SATB2-AS1 GC02M199366 |
| GH02F199737 | 1.2 | Ensembl ENCODE | 10.4 | -267.8 | -267798 | 2.7 | PKNOX1 ZFP64 ARID4B ZNF48 YY1 SLC30A9 ZNF143 NFYC MIER2 REST | FTCDNL1 SATB2 PIR44514 SEPHS1P6 |
| GH02F199454 | 1.7 | FANTOM5 Ensembl ENCODE | 7.1 | +12.0 | 11982 | 10.3 | PKNOX1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 | TYW5 C2orf69 SATB2 SATB2-AS1 |
| GH02F199302 | 1 | FANTOM5 Ensembl ENCODE | 11.9 | +167.5 | 167549 | 2.5 | BHLHE40 FOS | ENSG00000257045 SATB2 GC02P199311 GC02M199231 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around SATB2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the SATB2 gene promoter:
Regulatory Element Products
Genomic Location for SATB2 Gene
- Chromosome:
- 2
- Start:
- 199,269,500 bp from pter
- End:
- 199,471,266 bp from pter
- Size:
- 201,767 bases
- Orientation:
- Minus strand
Genomic View for SATB2 Gene
Genes around SATB2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q33.1 by Ensembl
- 2q33.1 by Entrez Gene
- 2q33.1 by HGNC
SATB2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SATB2 Gene
Proteins for SATB2 Gene
-
Protein details for SATB2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UPW6-SATB2_HUMAN
- Recommended name:
- DNA-binding protein SATB2
- Protein Accession:
- Q9UPW6
- A8K5Z8
- Q3ZB87
- Q4V763
Protein attributes for SATB2 Gene
- Size:
- 733 amino acids
- Molecular mass:
- 82555 Da
- Quaternary structure:
-
- Interacts with ATF4 and RUNX2; resulting in enhanced DNA binding and transactivation by these transcription factors (By similarity). Interacts with PIAS1.
- SequenceCaution:
-
- Sequence=BAA82986.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for SATB2 Gene
Post-translational modifications for SATB2 Gene
- Sumoylated by PIAS1. Sumoylation promotes nuclear localization, but represses transcription factor activity.
- Ubiquitination at Lys 184
- Modification sites at PhosphoSitePlus
Other Protein References for SATB2 Gene
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for SATB2
-
Custom Antibody ServicesOriGene Antibodies for SATB2
- Novus Biologicals Antibodies for SATB2
-
Abcam antibodies for SATB2
- Invitrogen Antibodies for SATB2
- antibodies-online Antibodies for SATB2: See all 70
- GeneTex SATB2 antibody for SATB2
-
St John's Laboratory Antibodies for SATB2
-
Custom Antibody ServicesProSci Antibodies for SATB2
-
Santa Cruz Biotechnology (SCBT) Antibodies for SATB2
Protein Products
-
OriGene Purified Proteins for SATB2
- Search Origene for MassSpec and Protein Over-expression Lysates for SATB2
- Origene Custom Protein Services for SATB2
- Novus Biologicals proteins for SATB2
- antibodies-online Proteins for SATB2: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Proteins for SATB2
-
Abcam proteins for SATB2
Assay Products
No data available for DME Specific Peptides for SATB2 Gene
Domains & Families for SATB2 Gene
Gene Families for SATB2 Gene
Protein Domains for SATB2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SATB2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UPW6UniProtKB/Swiss-Prot:
SATB2_HUMAN :- Contains 2 CUT DNA-binding domains.
- Belongs to the CUT homeobox family.
- Domain:
-
- Contains 2 CUT DNA-binding domains.
- Contains 1 homeobox DNA-binding domain.
- Family:
-
- Belongs to the CUT homeobox family.
Function for SATB2 Gene
Molecular function for SATB2 Gene
- UniProtKB/Swiss-Prot 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II core promoter proximal region sequence-specific DNA binding | IEA | -- |
| GO:0001077 | transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 20829881 |
Phenotypes for SATB2 Gene
- MGI mutant phenotypes for SATB2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SATB2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SATB2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SATB2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SATB2 gene
- Search ViGene Biosciences for SATB2
CRISPR Products
-
OriGene CRISPR knockouts for SATB2
- GenScript: Design CRISPR guide RNA sequences for SATB2
miRNA for SATB2 Gene
- miRTarBase miRNAs that target SATB2
-
- hsa-mir-31-5p (MIRT006567)
- hsa-mir-34a-5p (MIRT025532)
- hsa-mir-192-5p (MIRT026761)
- hsa-mir-320b (MIRT036228)
- hsa-mir-505-5p (MIRT037950)
- hsa-mir-320a (MIRT044745)
- hsa-mir-149-5p (MIRT045505)
- hsa-mir-182-5p (MIRT054760)
- hsa-mir-5096 (MIRT086564)
- hsa-mir-6837-3p (MIRT254476)
- hsa-mir-218-5p (MIRT439707)
- hsa-mir-7150 (MIRT505773)
- hsa-mir-548au-3p (MIRT505774)
- hsa-mir-4696 (MIRT505775)
- hsa-mir-548an (MIRT505776)
- hsa-mir-449b-5p (MIRT505777)
- hsa-mir-34c-5p (MIRT505778)
- hsa-mir-449a (MIRT505779)
- hsa-mir-6126 (MIRT546539)
- hsa-mir-1468-5p (MIRT546540)
- hsa-mir-4493 (MIRT546541)
- hsa-mir-4708-3p (MIRT546542)
- hsa-mir-605-3p (MIRT546543)
- hsa-mir-6511a-5p (MIRT546544)
- hsa-mir-1910-3p (MIRT546545)
- hsa-mir-520e (MIRT546546)
- hsa-mir-520d-3p (MIRT546547)
- hsa-mir-520c-3p (MIRT546548)
- hsa-mir-520b (MIRT546549)
- hsa-mir-520a-3p (MIRT546550)
- hsa-mir-373-3p (MIRT546551)
- hsa-mir-372-3p (MIRT546552)
- hsa-mir-302e (MIRT546553)
- hsa-mir-302d-3p (MIRT546554)
- hsa-mir-302c-3p (MIRT546555)
- hsa-mir-302b-3p (MIRT546556)
- hsa-mir-302a-3p (MIRT546557)
- hsa-mir-519c-3p (MIRT546558)
- hsa-mir-519b-3p (MIRT546559)
- hsa-mir-519a-3p (MIRT546560)
- hsa-mir-3714 (MIRT546561)
- hsa-mir-454-3p (MIRT546562)
- hsa-mir-130b-3p (MIRT546563)
- hsa-mir-4295 (MIRT546564)
- hsa-mir-3666 (MIRT546565)
- hsa-mir-301b-3p (MIRT546566)
- hsa-mir-301a-3p (MIRT546567)
- hsa-mir-130a-3p (MIRT546568)
- hsa-mir-3653-5p (MIRT554420)
- hsa-mir-1976 (MIRT554421)
- hsa-mir-5007-5p (MIRT554422)
- hsa-mir-6499-3p (MIRT614783)
- hsa-mir-6733-3p (MIRT614784)
- hsa-mir-4445-5p (MIRT616193)
- hsa-mir-6766-3p (MIRT616194)
- hsa-mir-4782-3p (MIRT616195)
- hsa-mir-219a-5p (MIRT616196)
- hsa-mir-508-3p (MIRT616197)
miRNA Products
- Search ViGene Biosciences for SATB2
Clone Products
- Sino Biological Human cDNA Clone for SATB2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SATB2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SATB2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
- ESI BIO PureStem MEL2, NCr-fac Progenitor for SATB2
-
Horizon Cell Lines for SATB2
-
ViGene Biosciences adenoviral particle packaged cDNA for SATB2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SATB2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SATB2 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SATB2 Gene
Localization for SATB2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SATB2 Gene
- Nucleus matrix.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000118 | histone deacetylase complex | IEA | -- |
| GO:0005634 | nucleus | IEA,IBA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005667 | transcription factor complex | IEA | -- |
| GO:0005737 | cytoplasm | IDA | -- |
Pathways & Interactions for SATB2 Gene
No Data Available
Interacting Proteins for SATB2 Gene
Selected Interacting proteins:
Q9UPW6-SATB2_HUMAN
ENSP00000260926
for SATB2 Gene via
MINT
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | IEA | -- |
| GO:0001764 | neuron migration | IEA | -- |
| GO:0002076 | osteoblast development | IEA | -- |
| GO:0006338 | chromatin remodeling | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for SATB2 Gene
Transcripts for SATB2 Gene
mRNA/cDNA for SATB2 Gene
- (7) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (81) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SATB2 Gene
- SATB homeobox 2:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for SATB2
- GenScript: Design CRISPR guide RNA sequences for SATB2
miRNA Products
- Search ViGene Biosciences for SATB2
Clone Products
- Sino Biological Human cDNA Clone for SATB2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SATB2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SATB2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||
| SP6: |
Expression for SATB2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Bone (Muscoskeletal System)
- Endochondral Osteoblasts Rostral Endochondral Facial Bones
- Intramembranous Preosteoblasts Membranous Facial Bones
- Intramembranous Osteoblasts Rostral Skull Membranous Bones
- HyStem+TGFbeta3+GDF5-induced MEL2 cells
- HyStem+BMP4-induced MEL2 cells
-
Neural Crest (Gastrulation Derivatives)
- Mesencephalic Neural Crest Cells Prechordal Mesenchyme
- PureStem MEL2, NCr-fac Progenitor
- Cranial Neural Crest Cells Branchial Arch 1
- Diencephalic Neural Crest Cells Prechordal Mesenchyme
-
Head Mesenchyme (Muscoskeletal System)
- Mesencephalic Neural Crest Cells Prechordal Mesenchyme
- Diencephalic Neural Crest Cells Prechordal Mesenchyme
- Cranial Neural Crest Cells Branchial Arch 1
-
Limb (Muscoskeletal System)
- Pelvic Girdle
- Stylopod Synovial Joint
- Interzone Cells Stylopod Synovial Joint
-
Eye (Sensory Organs)
- SEG Amacrine Cells Inner Nuclear Layer
- nGnG Amacrine Cells Inner Nuclear Layer
-
Neurons
- SEG Amacrine Cells Inner Nuclear Layer
- nGnG Amacrine Cells Inner Nuclear Layer
-
Cartilage (Muscoskeletal System)
- HyStem+TGFbeta3+GDF5-induced MEL2 cells
- Interzone Cells Stylopod Synovial Joint
- Brain (Nervous System)
-
Colon (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for SATB2 Gene
This gene is overexpressed in Colon - Transverse (x8.6), Brain - Frontal Cortex (BA9) (x5.6), Brain - Anterior cingulate cortex (BA24) (x4.2), and Brain - Cortex (x4.1).
This gene is overexpressed in Colon (26.1), Heart (20.1), Fetal Brain (12.1), and Rectum (9.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SATB2 Gene
NURSA nuclear receptor signaling pathways regulating expression of SATB2 Gene:
SATB2SOURCE GeneReport for Unigene cluster for SATB2 Gene:
Hs.516617mRNA Expression by UniProt/SwissProt for SATB2 Gene:
Q9UPW6-SATB2_HUMAN
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.
Primer Products
-
OriGene qPCR primer pairs for SATB2
Orthologs for SATB2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SATB2 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SATB2 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SATB2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | SATB2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Satb2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Satb2 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SATB2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SATB2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SATB2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | satb2 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | satb2 34 35 |
|
- Species where no ortholog for SATB2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for SATB2 Gene
(1) SIMAP similar genes for SATB2 Gene using alignment to 4 proteins:
Variants for SATB2 Gene
| SNP ID | Clin | Chr 02 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs137853127 | Pathogenic | 199,349,159(-) | TGGAA(C/T)GAGAA | reference, stop-gained | |
| rs797044874 | Pathogenic | 199,349,027(-) | CAATC(C/T)GAAAC | reference, stop-gained | |
| rs875989830 | Pathogenic | 199,348,742(-) | AGTGT(-/GT)CCCAA | reference, frameshift-variant | |
| rs878853163 | Pathogenic | 199,323,850(-) | GGGCC(A/T)AGGTG | reference, stop-gained | |
| rs863224917 | Likely pathogenic | 199,348,705(-) | CCGCA(C/T)ACAGG | reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2127n106 | CNV | deletion | 24896259 |
| esv1009594 | CNV | deletion | 20482838 |
| esv2110977 | CNV | deletion | 18987734 |
| esv2572304 | CNV | deletion | 19546169 |
| esv2661101 | CNV | deletion | 23128226 |
| esv2670764 | CNV | deletion | 23128226 |
| esv2721352 | CNV | deletion | 23290073 |
| esv2721353 | CNV | deletion | 23290073 |
| esv27345 | CNV | loss | 19812545 |
| esv3560807 | CNV | deletion | 23714750 |
| esv3584268 | CNV | loss | 25503493 |
| esv3584269 | CNV | loss | 25503493 |
| esv3593941 | CNV | loss | 21293372 |
| esv3593942 | CNV | gain | 21293372 |
| esv3593943 | CNV | loss | 21293372 |
| esv3593944 | CNV | loss | 21293372 |
| esv3593945 | CNV | loss | 21293372 |
| esv3593946 | CNV | loss | 21293372 |
| esv4682 | CNV | loss | 18987735 |
| esv7603 | CNV | loss | 19470904 |
| esv993308 | CNV | deletion | 20482838 |
| nsv1073004 | CNV | deletion | 25765185 |
| nsv1149651 | CNV | deletion | 26484159 |
| nsv213912 | CNV | deletion | 16902084 |
| nsv3104 | CNV | insertion | 18451855 |
| nsv441800 | CNV | loss | 18776908 |
| nsv514113 | CNV | loss | 21397061 |
| nsv955060 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
5.29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.65;
13.87% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for SATB2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SATB2 Gene
Disorders for SATB2 Gene
(37) MalaCards diseases for SATB2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| glass syndrome |
|
|
| 2q33.1 microdeletion syndrome |
|
|
| cleft palate, isolated |
|
|
| periampullary adenocarcinoma |
|
|
| acrofrontofacionasal dysostosis |
|
|
Search SATB2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SATB2_HUMAN- 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, mental retardation, and osteoporosis. {ECO:0000269 PubMed:12915443, ECO:0000269 PubMed:17377962}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
- 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}.
- Note=Chromosomal aberrations involving SATB2 are found in isolated cleft palate. Translocation t(2;7); translocation t(2;11). {ECO:0000269 PubMed:12915443}.
Relevant External Links for SATB2
No data available for Genatlas for SATB2 Gene
Publications for SATB2 Gene
- Identification of SATB2 as the cleft palate gene on 2q32-q33. (PMID: 12915443) FitzPatrick D.R. … Bonthron D.T. (Hum. Mol. Genet. 2003) 3 4 22 64
- Testing reported associations of genetic risk factors for oral clefts in a large Irish study population. (PMID: 19937600) Carter T.C. … Mills J.L. (Birth Defects Res. Part A Clin. Mol. Teratol. 2010) 3 46 64
- Genome-wide association identifies multiple ulcerative colitis susceptibility loci. (PMID: 20228799) McGovern D.P. … Seielstad M. (Nat. Genet. 2010) 3 46 64
- Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A. … Murray J.C. (PLoS ONE 2010) 3 46 64
- Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. (PMID: 19170718) Tegay D.H. … Hatchwell E. (Clin. Genet. 2009) 4 22 64
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