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 cognitive disability. 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 Satb2-Associated Syndrome. Gene Ontology (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.
Additional gene information for SATB2 Gene
- Monarch Initiative
- Search for SATB2 at DataMed
- Search for SATB2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SATB2 Gene
Genomics for SATB2 Gene
GeneHancer (GH) Regulatory Elements for SATB2 Gene
Promoters and enhancers for SATB2 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH02I199454 | Promoter/Enhancer | 2.8 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 557.1 | +12.0 | 11981 | 10.3 | MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 ZNF263 SP3 | SATB2 SATB2-AS1 TYW5 | |
| GH02I199471 | Promoter/Enhancer | 1.1 | EPDnew dbSUPER | 550.8 | 0.0 | -20 | 0.1 | CTCF MAZ GLIS2 SUZ12 ZEB2 ZBTB8A ZFX EZH2 | SATB2 SATB2-AS1 LINC01877 | |
| GH02I199472 | Enhancer | 1 | ENCODE dbSUPER | 550.8 | -0.4 | -367 | 0.2 | CTCF RB1 SUZ12 ARID4B ZNF2 ZNF48 RAD21 HIC1 ZNF335 CCNT2 | SATB2 SATB2-AS1 LINC01877 | |
| GH02I199466 | Promoter/Enhancer | 0.9 | EPDnew dbSUPER | 550.4 | +6.1 | 6128 | 0.1 | POLR2A EZH2 | SATB2 SATB2-AS1 | |
| GH02I199474 | Enhancer | 0.3 | dbSUPER | 550.8 | -1.0 | -996 | 0.5 | CTCF | SATB2 SATB2-AS1 LINC01877 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SATB2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SATB2 gene promoter:
Regulatory Element Products
Genomic Locations for SATB2 Gene
Genomic Locations for SATB2 Gene
- chr2:199,269,500-199,471,266
- (GRCh38/hg38)
- Size:
- 201,767 bases
- Orientation:
- Minus strand
- chr2:200,134,223-200,335,989
- (GRCh37/hg19)
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 posLast=184184
Other Protein References for SATB2 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SATB2
- Novus Biologicals Antibodies for SATB2
-
Abcam antibodies for SATB2
- Invitrogen Antibodies for SATB2
- GeneTex SATB2 antibody 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: Search results for 4 available SATB2 Proteins ranked by validation data
- Compare Top SATB2 Proteins
-
Quality Products:
- 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
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
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
Q9UPW6- 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.
Phenotypes From GWAS Catalog for SATB2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA | -- |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | IEA | -- |
Phenotypes for SATB2 Gene
- MGI mutant phenotypes for SATB2:
-
inferred from 3 alleles
- nervous system phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- mortality/aging
- cellular phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- embryo phenotype
- skeleton phenotype
- craniofacial phenotype
- limbs/digits/tail phenotype
- 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
- genomics-online: gRNA clones - Search results for 113 available SATB2 gene related products
- Overview of 113 available SATB2 gene related products
- Applied Biological Materials CRISPR for SATB2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR 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)
- hsa-mir-33a-5p (MIRT734256)
- hsa-mir-599 (MIRT735048)
- hsa-mir-211-5p (MIRT735196)
- hsa-mir-205-5p (MIRT735300)
- hsa-mir-186-3p (MIRT738275)
- hsa-mir-203a-3p (MIRT738804)
- hsa-mir-2115-3p (MIRT738964)
- hsa-mir-3125 (MIRT740017)
- hsa-mir-3177-5p (MIRT740709)
- hsa-mir-3185 (MIRT740898)
- hsa-mir-3609 (MIRT741532)
- hsa-mir-3916 (MIRT742913)
- hsa-mir-5197-3p (MIRT750092)
- hsa-mir-520g-3p (MIRT750254)
- hsa-mir-520h (MIRT750264)
- hsa-mir-548ah-5p (MIRT750517)
- hsa-mir-5680 (MIRT751139)
- hsa-mir-671-5p (MIRT753712)
- hsa-mir-6859-5p (MIRT757833)
miRNA Products
- Search ViGene Biosciences for SATB2
Inhibitory RNA Products
- Origene RNAi, shrna, and sirna products in human, mouse, rat for SATB2
- Browse OriGene Inhibitory RNA Products For SATB2
- genomics-online: shRNA clones - Search results for 113 available SATB2 gene related products
- Overview of 113 available SATB2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SATB2 gene
Clone Products
-
OriGene ORF clones in human for SATB2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- 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
- Addgene plasmids for SATB2
- Applied Biological Materials Clones for SATB2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
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 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000118 | histone deacetylase complex | IEA | -- |
| GO:0005634 | nucleus | IBA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | IEA | -- |
| GO:0016363 | nuclear matrix | IEA | -- |
Pathways & Interactions for SATB2 Gene
No Data Available
Interacting Proteins for SATB2 Gene
Selected Interacting proteins:
Q9UPW6-SATB2_HUMAN
ENSP00000260926
for SATB2 Gene via
IID
STRING
UniProtKB
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | 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
- genomics-online: gRNA clones - Search results for 113 available SATB2 gene related products
- Overview of 113 available SATB2 gene related products
- Applied Biological Materials CRISPR for SATB2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SATB2
- GenScript: Design CRISPR guide RNA sequences for SATB2
miRNA Products
- Search ViGene Biosciences for SATB2
Inhibitory RNA Products
- Origene RNAi, shrna, and sirna products in human, mouse, rat for SATB2
- Browse OriGene Inhibitory RNA Products For SATB2
- genomics-online: shRNA clones - Search results for 113 available SATB2 gene related products
- Overview of 113 available SATB2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SATB2 gene
Clone Products
-
OriGene ORF clones in human for SATB2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- 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
- Addgene plasmids for SATB2
- Applied Biological Materials Clones for SATB2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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
- Endochondral Preosteoblasts Endochondral Facial Bones
- Endochondral Osteoblasts Caudal Facial Endochondral Bones
-
Neural Crest (Gastrulation Derivatives)
- Mesencephalic Neural Crest Cells Prechordal Mesenchyme
- Diencephalic Neural Crest Cells Prechordal Mesenchyme
- Cranial Neural Crest Cells Branchial Arch 1
- PureStem MEL2, NCr-fac Progenitor
-
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)
- Interzone Cells Stylopod Synovial Joint
- Stylopod Synovial Joint
- Pelvic Girdle
-
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)
- Interzone Cells Stylopod Synovial Joint
- HyStem+TGFbeta3+GDF5-induced MEL2 cells
- 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.
Evidence on tissue expression from TISSUES for SATB2 Gene
- Nervous system(4.9)
- Intestine(2.8)
- Bone(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SATB2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cheek
- chin
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- outer ear
- skull
- tooth
Abdomen:
- abdominal wall
- intestine
Limb:
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- hair
- peripheral nerve
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for SATB2
- genomics-online: primer clones - Search results for 113 available SATB2 gene related products
- Overview of 113 available SATB2 gene related products
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 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SATB2 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SATB2 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SATB2 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Satb2 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Satb2 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SATB2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SATB2 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SATB2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | satb2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | satb2 33 34 |
|
- 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 | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057519013 | uncertain-significance, intellectual deficiency | 199,328,886(-) | T/C | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs137853127 | pathogenic, Chromosome 2q32-q33 deletion syndrome, not provided | 199,349,159(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, stop_gained | |
| rs140116634 | likely-benign, Chromosome 2q32-q33 deletion syndrome | 199,433,351(-) | C/G/T | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs141424911 | benign, Chromosome 2q32-q33 deletion syndrome | 199,272,292(-) | G/A/C | coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant | |
| rs141436870 | benign, Chromosome 2q32-q33 deletion syndrome | 199,272,595(-) | C/A/T | coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant |
| 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)
Additional Variant Information for SATB2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SATB2 Gene
Disorders for SATB2 Gene
(46) MalaCards diseases for SATB2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| glass syndrome |
|
|
| satb2-associated syndrome |
|
|
| cleft palate, isolated |
|
|
| ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 |
|
|
| small cell osteogenic sarcoma |
|
|
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}.
Additional Disease Information for SATB2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 DR … Bonthron DT (Human molecular genetics 2003) 3 4 22 58
- Testing reported associations of genetic risk factors for oral clefts in a large Irish study population. (PMID: 19937600) Carter TC … Mills JL (Birth defects research. Part A, Clinical and molecular teratology 2010) 3 44 58
- Genome-wide association identifies multiple ulcerative colitis susceptibility loci. (PMID: 20228799) McGovern DP … Seielstad M (Nature genetics 2010) 3 44 58
- 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 JC (PloS one 2010) 3 44 58
- Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. (PMID: 19170718) Tegay DH … Hatchwell E (Clinical genetics 2009) 4 22 58
Products for SATB2 Gene
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- Custom Antibody ServicesOriGene Antibodies for SATB2
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- Novus Biologicals Antibodies for SATB2
- Novus Biologicals proteins for SATB2
- Novus Biologicals
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- Abcam antibodies for SATB2
- Abcam proteins for SATB2
- Find your target
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- Cloud-Clone Corp. disease models service
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- Cloud-Clone Corp. primary cells service
- ESI BIO PureStem MEL2, NCr-fac Progenitor for SATB2
- Invitrogen Antibodies for SATB2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for SATB2
- 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
- Addgene plasmids for SATB2
- antibodies-online: Search results for 87 available SATB2 Antibodies ranked by validation data
- Compare Top SATB2 Antibodies
- antibodies-online: Search results for available SATB2 related products ranked by validation data
- antibodies-online: Search results for 4 available SATB2 Proteins ranked by validation data
- Compare Top SATB2 Proteins
- Quality Products:
- GeneTex SATB2 antibody for SATB2
- Search GeneTex for Proteins 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
- Search ViGene Biosciences for SATB2
- Santa Cruz Biotechnology (SCBT) Antibodies for SATB2
- Search Santa Cruz Biotechnology (SCBT) for SATB2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SATB2
- Custom Antibody ServicesProSci Antibodies for SATB2
- Search for SATB2 Proteins at ProSci
- Horizon Cell Lines for SATB2
- genomics-online: cdna clones - Search results for 113 available SATB2 gene related products
- Overview of 113 available SATB2 gene related products
- orf clones - Search results for 113 available SATB2 gene related products
- Overview of 113 available SATB2 gene related products
- genomics-online: gRNA clones - Search results for 113 available SATB2 gene related products
- Overview of 113 available SATB2 gene related products
- genomics-online: primer clones - Search results for 113 available SATB2 gene related products
- Overview of 113 available SATB2 gene related products
- genomics-online: shRNA clones - Search results for 113 available SATB2 gene related products
- Overview of 113 available SATB2 gene related products
Sources for SATB2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew