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This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene... See more...
Aliases for TBX2 Gene
Aliases for TBX2 Gene
External Ids for TBX2 Gene
- HGNC: 11597
- Entrez Gene: 6909
- Ensembl: ENSG00000121068
- OMIM: 600747
- UniProtKB: Q13207
Previous GeneCards Identifiers for TBX2 Gene
- GC17P059241
- GC17P061963
- GC17P059819
- GC17P059951
- GC17P056832
- GC17P059477
- GC17P054844
Summaries for TBX2 Gene
-
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for TBX2 Gene
TBX2 (T-Box Transcription Factor 2) is a Protein Coding gene. Diseases associated with TBX2 include Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction and Ulnar-Mammary Syndrome. Among its related pathways are Heart Development and Inhibition of Ribosome Biogenesis by p14(ARF). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is TBX3.
UniProtKB/Swiss-Prot Summary for TBX2 Gene
-
Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence. May be required for cardiac atrioventricular canal formation.
Additional gene information for TBX2 Gene
- HGNC(11597)
- Entrez Gene(6909)
- Ensembl(ENSG00000121068)
- OMIM(600747)
- UniProtKB(Q13207)
- Open Targets Platform(ENSG00000121068)
- Search for TBX2 at DataMed
- Search for TBX2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBX2 Gene
Genomics for TBX2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TBX2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TBX2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBX2
- Top Transcription factor binding sites by QIAGEN in the TBX2 gene promoter:
-
- AREB6
- Nkx2-5
- p53
- SRF
- SRF (504 AA)
- STAT5A
Genomic Locations for TBX2 Gene
Genomic Locations for TBX2 Gene
- chr17:61,399,843-61,409,466
- (GRCh38/hg38)
- Size:
- 9,624 bases
- Orientation:
- Plus strand
- chr17:59,477,257-59,486,827
- (GRCh37/hg19)
- Size:
- 9,571 bases
- Orientation:
- Plus strand
Genomic View for TBX2 Gene
Genes around TBX2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q23.2 by HGNC
- 17q23.2 by Entrez Gene
- 17q23.2 by Ensembl
TBX2 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 TBX2 Gene
Proteins for TBX2 Gene
-
Protein details for TBX2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13207-TBX2_HUMAN
- Recommended name:
- T-box transcription factor TBX2
- Protein Accession:
- Q13207
- Q16424
- Q7Z647
Protein attributes for TBX2 Gene
- Size:
- 712 amino acids
- Molecular mass:
- 75066 Da
- Quaternary structure:
-
- Interacts with PML (isoform PML-2, isoform PML-3 and isoform PML-4).
- SequenceCaution:
-
- Sequence=AAA73861.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH52566.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for TBX2 Gene
Post-translational modifications for TBX2 Gene
Other Protein References for TBX2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ TBX2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for TBX2
- Novus Biologicals Antibodies for TBX2
-
Abcam antibodies for TBX2
- Invitrogen Antibodies for TBX2 (AFLGC-TBX2)
-
Biorbyt antibodies for TBX2
-
Santa Cruz Biotechnology (SCBT) Antibodies for TBX2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for TBX2
- Origene Custom Protein Services for TBX2
- Novus Biologicals proteins for TBX2
-
Abcam proteins for TBX2
Assay Products
- G Biosciences Immunotag™ Human TBX2 (T-Box Protein 2) ELISA
- RayBiotech Custom Human TBX2 ELISA
-
Boster Bio ELISA Kits for TBX2
No data available for DME Specific Peptides for TBX2 Gene
Domains & Families for TBX2 Gene
Gene Families for TBX2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transcription factors
Protein Domains for TBX2 Gene
- InterPro:
- Blocks:
-
- Transcription factor, T-box
- Brachyury protein family signature
- ProtoNet:
Suggested Antigen Peptide Sequences for TBX2 Gene
- GenScript: Design optimal peptide antigens:
-
- T-box transcription factor TBX2 (TBX2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q13207UniProtKB/Swiss-Prot:
TBX2_HUMAN :- The repression domain 1 (RD1) is necessary for its interaction with PML.
- Domain:
-
- The repression domain 1 (RD1) is necessary for its interaction with PML.
Function for TBX2 Gene
Molecular function for TBX2 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence. May be required for cardiac atrioventricular canal formation.
- GENATLAS Biochemistry:
- murine T-box gene Tbx2 (T,brachyury) homolog,with homology to Drosophila,Trg,expressed in placenta,fetal and adult lung,kidney,adult ovary,prostate,spleen,testis,involved in developmental regulation
Phenotypes From GWAS Catalog for TBX2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 11111039 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
| GO:0001102 | RNA polymerase II activating transcription factor binding | IBA | 21873635 |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 11111039 |
Phenotypes for TBX2 Gene
- MGI mutant phenotypes for TBX2:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for TBX2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TBX2 - Select products 50% OFF >
- * TBX2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene CRISPR knockouts for TBX2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBX2
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBX2
miRNA for TBX2 Gene
- miRTarBase miRNAs that target TBX2
-
- hsa-miR-124-3p (MIRT022554)
- hsa-miR-744-5p (MIRT037721)
- mmu-miR-686 (MIRT580578)
- mmu-miR-466l-3p (MIRT580579)
- hsa-miR-4446-5p (MIRT616073)
- hsa-miR-3679-3p (MIRT616074)
- hsa-miR-6810-5p (MIRT616075)
- hsa-miR-6826-3p (MIRT616076)
- hsa-miR-4652-5p (MIRT616077)
- hsa-miR-3191-3p (MIRT616078)
- hsa-miR-3144-5p (MIRT616079)
- hsa-miR-8089 (MIRT616080)
- hsa-miR-4700-5p (MIRT616081)
- hsa-miR-4667-5p (MIRT616082)
- hsa-miR-6852-5p (MIRT616083)
- hsa-miR-6791-5p (MIRT616084)
- hsa-miR-4292 (MIRT616085)
- hsa-miR-331-3p (MIRT616086)
- hsa-miR-6810-3p (MIRT616087)
- hsa-miR-6801-3p (MIRT616088)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TBX2
- Browse OriGene Inhibitory RNA Products For TBX2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBX2
Clone Products
- Applied Biological Materials (abm): Clones for TBX2 - Select products 50% OFF >
- * TBX2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TBX2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBX2
Cell Line Products
-
Horizon Cell Lines for TBX2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TBX2 Gene
Localization for TBX2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TBX2 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | ISA | -- |
| GO:0005634 | nucleus | IEA,IDA | 15042700 |
| GO:0005667 | transcription factor complex | IEA | -- |
Pathways & Interactions for TBX2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Inhibition of Ribosome Biogenesis by p14(ARF) |
Inhibition of Ribosome Biogenesis by p14(ARF)
-
|
|
| 2 | Heart Development | ||
| 3 | Kit receptor signaling pathway | ||
Pathways by source for TBX2 Gene
2 BioSystems pathways for TBX2 Gene
1 Qiagen pathway for TBX2 Gene
- Inhibition of Ribosome Biogenesis by p14(ARF)
Interacting Proteins for TBX2 Gene
Selected Interacting proteins:
Q13207-TBX2_HUMAN
ENSP00000240328
for TBX2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for TBX2
SIGNOR curated interactions for TBX2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 11111039 |
| GO:0001708 | cell fate specification | IBA | 21873635 |
| GO:0001947 | heart looping | ISS | -- |
| GO:0003007 | heart morphogenesis | IEA | -- |
| GO:0003148 | outflow tract septum morphogenesis | ISS | -- |
Drugs & Compounds for TBX2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Atenolol | Approved | Pharma | Antagonist | 114 |
Transcripts for TBX2 Gene
mRNA/cDNA for TBX2 Gene
- 1 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000240328 3433 nts (view in UCSC)
- ENST00000419047 3344 nts (view in UCSC)
- ENST00000477081 5218 nts (view in UCSC)
- ENST00000586986 329 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TBX2 - Select products 50% OFF >
- * TBX2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TBX2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBX2
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBX2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TBX2
- Browse OriGene Inhibitory RNA Products For TBX2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBX2
Clone Products
- Applied Biological Materials (abm): Clones for TBX2 - Select products 50% OFF >
- * TBX2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TBX2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBX2
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - |
Relevant External Links for TBX2 Gene
- GeneLoc Exon Structure for
- TBX2
Expression for TBX2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
- Cardiomyocytes Outflow Tract
- Cardiomyocytes Atrioventricular Septum
- Cardiomyocytes Left Atrium
- Cardiomyocytes Inner Curvature
mRNA differential expression in normal tissues according to GTEx for TBX2 Gene
This gene is overexpressed in Lung (x5.3) and Artery - Coronary (x4.9).
This gene is overexpressed in Spinal cord (32.3) and Pancreatic juice (18.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TBX2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBX2
SOURCE GeneReport for Unigene cluster for TBX2 Gene:
Hs.531085mRNA Expression by UniProt/SwissProt for TBX2 Gene:
Q13207-TBX2_HUMAN
Tissue specificity:
Expressed primarily in adult in kidney, lung, and placenta. Weak expression in heart and ovary.
Evidence on tissue expression from TISSUES for TBX2 Gene
- Nervous system(4.5)
- Liver(4.3)
- Lung(3.3)
- Eye(2.7)
- Kidney(2.7)
- Heart(2.6)
- Muscle(2.6)
- Skin(2.5)
- Intestine(2.4)
- Blood(2.1)
- Thyroid gland(2.1)
- Pancreas(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TBX2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- nervous
- respiratory
- skeleton
Regions:
Head and neck:
- brain
- ear
- face
- forehead
- head
- skull
Thorax:
- aorta
- heart
- heart valve
- lung
Limb:
- digit
- finger
- foot
- hand
- lower limb
- toe
- upper limb
General:
- blood
- blood vessel
Primer Products
-
OriGene qPCR primer pairs for TBX2
-
OriGene qPCR primer pairs and template standards for TBX2
Gene Expression Assay Products
No data available for Protein tissue co-expression partners for TBX2 Gene
Orthologs for TBX2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TBX2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TBX2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TBX2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Tbx2 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | TBX2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TBX2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TBX2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tbx2 30 |
|
||
| Str.9437 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68420 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | tbx2a 31 |
|
OneToMany | |
| tbx2b 30 31 |
|
OneToMany | |||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2629 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | org-1 32 |
|
|
|
| Doc2 32 |
|
|
|||
| Doc3 32 |
|
|
|||
| Doc1 32 |
|
|
|||
| bi 31 32 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | tbx-2 31 32 |
|
OneToMany | |
| tbx-9 32 |
|
|
|||
| tbx-8 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.7740 30 |
|
- Species where no ortholog for TBX2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- 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)
Evolution for TBX2 Gene
- ENSEMBL:
- Gene Tree for TBX2 (if available)
- TreeFam:
- Gene Tree for TBX2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TBX2: view image
Paralogs for TBX2 Gene
Paralogs for TBX2 Gene
(11) SIMAP similar genes for TBX2 Gene using alignment to 2 proteins:
- TBX2_HUMAN
- F8WCM9_HUMAN
Variants for TBX2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBX2 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 708559 | Benign: not provided | 61,408,140(+) | C/G | SYNONYMOUS_VARIANT | |
| 714114 | Likely Benign: not provided | 61,408,167(+) | C/A | SYNONYMOUS_VARIANT | |
| 716229 | Likely Benign: not provided | 61,405,841(+) | G/A | INTRON_VARIANT | |
| 717066 | Likely Benign: not provided | 61,400,500(+) | G/C | SYNONYMOUS_VARIANT | |
| 717962 | Likely Benign: not provided | 61,405,710(+) | C/T | SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
41.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.29;
40.96% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TBX2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBX2 Gene
Disorders for TBX2 Gene
(21) MalaCards diseases for TBX2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| vertebral anomalies and variable endocrine and t-cell dysfunction |
|
|
| ulnar-mammary syndrome |
|
|
| pulmonary valve stenosis |
|
|
| double outlet right ventricle |
|
|
| chromosome 17q23.1-q23.2 deletion syndrome |
|
|
Search TBX2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TBX2_HUMAN- Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) [MIM:618223]: An autosomal dominant syndrome characterized by skeletal malformations primarily involving the vertebrae, immunodeficiency, endocrine abnormalities such as hypoparathyroidism and growth hormone deficiency, craniofacial dysmorphism, congenital cardiac anomalies consisting of double-outlet right ventricle, pulmonary valve stenosis and atrial septal defect, and developmental impairments. {ECO:0000269 PubMed:29726930}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TBX2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for TBX2 Gene
Publications for TBX2 Gene
- Cloning and mapping of a human gene (TBX2) sharing a highly conserved protein motif with the Drosophila omb gene. (PMID: 8530034) Campbell C … Beatty B (Genomics 1995) 2 3 4 23
- Identification, characterization, and localization to chromosome 17q21-22 of the human TBX2 homolog, member of a conserved developmental gene family. (PMID: 8597636) Law DJ … Silver LM (Mammalian genome : official journal of the International Mammalian Genome Society 1995) 3 4 23
- Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. (PMID: 29726930) Liu N … Yamamoto S (Human molecular genetics 2018) 3 4
- Physical and functional interaction between PML and TBX2 in the establishment of cellular senescence. (PMID: 22002537) Martin N … Bischof O (The EMBO journal 2012) 3 4
- T-box 2 represses NDRG1 through an EGR1-dependent mechanism to drive the proliferation of breast cancer cells. (PMID: 20348948) Redmond KL … Mullan PB (Oncogene 2010) 3 23
ExternalLinks
Products for TBX2 Gene
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- Custom Assay Services
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- Browse OriGene Inhibitory RNA Products For TBX2
- OriGene qPCR primer pairs for TBX2
- OriGene qPCR primer pairs and template standards for TBX2
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- Browse OriGene miRNA Products For TBX2
- Sino Biological Human cDNA Clone for TBX2
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
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- Browse Primary Antibodies
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- Invitrogen Antibodies for TBX2 (AFLGC-TBX2)
- VectorBuilder Custom and pre-made DNA vectors for TBX2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for TBX2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for TBX2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for TBX2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for TBX2
- antibodies-online: Show 24 available TBX2 Antibodies ranked by validation data
- Compare Top TBX2 Antibodies
- antibodies-online: Show 11 available TBX2 Elisa Kits ranked by validation data
- Compare Top TBX2 Elisa Kits
- antibodies-online: Show 5 available TBX2 Proteins ranked by validation data
- Compare Top TBX2 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for TBX2
- Search Santa Cruz Biotechnology (SCBT) for TBX2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TBX2
- Horizon Cell Lines for TBX2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBX2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBX2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for TBX2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBX2
- Biorbyt antibodies for TBX2
Sources for TBX2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB