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Aliases for TBX2 Gene

Aliases for TBX2 Gene

  • T-Box 2 2 3 5
  • T-Box Protein 2 4

External Ids for TBX2 Gene

Previous GeneCards Identifiers for TBX2 Gene

  • GC17P059241
  • GC17P061963
  • GC17P059819
  • GC17P059951
  • GC17P056832
  • GC17P059477
  • GC17P054844

Summaries for TBX2 Gene

Entrez Gene Summary 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 2) is a Protein Coding gene. Diseases associated with TBX2 include Ulnar-Mammary Syndrome and Chromosome 17Q23.1-Q23.2 Deletion Syndrome. Among its related pathways are Kit receptor signaling pathway and Heart Development. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is TBX3.

UniProtKB/Swiss-Prot 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.

Gene Wiki entry for TBX2 Gene

Additional gene information for TBX2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBX2 Gene

Genomics for TBX2 Gene

Regulatory Elements for TBX2 Gene

Enhancers for TBX2 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
GH17H061393 2 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +10.8 10786 24 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 PPM1D MED13 TBX2-AS1 TBX2 TBX4 APPBP2 C17orf82 LOC101927855
GH17H061322 1.3 Ensembl ENCODE dbSUPER 10.9 -70.2 -70168 4 PKNOX1 ARNT FEZF1 EBF1 ZIC2 GTF3C2 CTBP1 GLIS2 POLR3A ZNF366 MED13 TBX2 PPM1D GC17P061333 GC17P061299
GH17H061460 1.2 ENCODE dbSUPER 11.1 +67.8 67808 5 ELF3 TBP FOXA2 ATF1 MLX ZFP64 ARID4B THRB RARA YY1 TBX2 NACA2 BCAS3 TBX4 ENSG00000267137
GH17H061427 1.1 ENCODE dbSUPER 11.8 +32.6 32568 1 FOXA2 MLX ARID4B ZSCAN9 RARA ZNF121 FOS HMG20B PPARG NFIL3 TBX2 NACA2 GC17P061440 C17orf82
GH17H061567 1.2 ENCODE dbSUPER 10.6 +174.3 174348 3 FOXA2 ATF1 SLC30A9 ATF7 FOS SP5 PPARG KAT8 NFIL3 MIER3 NACA2 C17orf82 INTS2 TBX4 TBX2 ENSG00000267137
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBX2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBX2 Gene

Chromosome:
17
Start:
61,394,698 bp from pter
End:
61,409,466 bp from pter
Size:
14,769 bases
Orientation:
Plus strand

Genomic View for TBX2 Gene

Genes around TBX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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; Positions=4; Evidence={ECO:0000305}; Sequence=AAH52566.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for TBX2 Gene

Post-translational modifications for TBX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Suggested Antigen Peptide Sequences for TBX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13207

UniProtKB/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.
genes like me logo Genes that share domains with TBX2: view

Function for TBX2 Gene

Molecular function for TBX2 Gene

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
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.

Phenotypes From GWAS Catalog for TBX2 Gene

Gene Ontology (GO) - Molecular Function for TBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 11111039
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 11111039
GO:0003677 DNA binding TAS,IEA 8530034
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0005515 protein binding IPI 22002537
genes like me logo Genes that share ontologies with TBX2: view
genes like me logo Genes that share phenotypes with TBX2: view

Human Phenotype Ontology for TBX2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TBX2 Gene

MGI Knock Outs for TBX2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TBX2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBX2 gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 15042700
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with TBX2: view

Pathways & Interactions for TBX2 Gene

genes like me logo Genes that share pathways with TBX2: view

Pathways by source for TBX2 Gene

2 BioSystems pathways for TBX2 Gene
1 Qiagen pathway for TBX2 Gene

Gene Ontology (GO) - Biological Process for TBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 11111039
GO:0001947 heart looping ISS --
GO:0003007 heart morphogenesis IEA --
GO:0003148 outflow tract septum morphogenesis ISS --
GO:0003151 outflow tract morphogenesis IEA,ISS --
genes like me logo Genes that share ontologies with TBX2: view

No data available for SIGNOR curated interactions for TBX2 Gene

Drugs & Compounds for TBX2 Gene

No Compound Related Data Available

Transcripts for TBX2 Gene

Unigene Clusters for TBX2 Gene

T-box 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TBX2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TBX2 Gene

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
ECgene alternative splicing isoforms for
TBX2

Expression for TBX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for TBX2 Gene

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, PaxDb, and MOPED for TBX2 Gene



NURSA nuclear receptor signaling pathways regulating expression of TBX2 Gene:

TBX2

SOURCE GeneReport for Unigene cluster for TBX2 Gene:

Hs.531085

mRNA 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(4.4)
  • Liver(4.1)
  • Lung(3)
  • Heart(2.2)
  • Eye(2.1)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TBX2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeleton
Organs:
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
genes like me logo Genes that share expression patterns with TBX2: view

Primer 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.

Orthologs for TBX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBX2 34 33
  • 99.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TBX2 33 34
  • 91.63 (n)
cow
(Bos Taurus)
Mammalia TBX2 33 34
  • 91.48 (n)
mouse
(Mus musculus)
Mammalia Tbx2 33 16 34
  • 89.7 (n)
oppossum
(Monodelphis domestica)
Mammalia TBX2 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBX2 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBX2 34 33
  • 77.93 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 50 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tbx2 33
  • 69.34 (n)
Str.9437 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68420 33
zebrafish
(Danio rerio)
Actinopterygii tbx2a 34
  • 68 (a)
OneToMany
tbx2b 34 33
  • 66.42 (n)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2629 33
fruit fly
(Drosophila melanogaster)
Insecta bi 35 34
  • 67 (a)
org-1 35
  • 57 (a)
Doc2 35
  • 56 (a)
Doc3 35
  • 55 (a)
Doc1 35
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea tbx-2 35 34
  • 61 (a)
tbx-9 35
  • 39 (a)
tbx-8 35
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7740 33
Species where no ortholog for TBX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for TBX2 Gene

Paralogs for TBX2 Gene

(11) SIMAP similar genes for TBX2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TBX2: view

Variants for TBX2 Gene

Sequence variations from dbSNP and Humsavar for TBX2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000002796 -- 61,408,867(+) AGCAT(C/T)GGAGG utr-variant-3-prime
rs1000197126 -- 61,398,231(+) TGGGG(C/G)CGGCG intron-variant, upstream-variant-2KB
rs1000379778 -- 61,402,884(+) AGGGT(C/G)AGAAA intron-variant
rs1000423 -- 61,398,281(+) GTCGG(C/T)CCCGA intron-variant, upstream-variant-2KB
rs1000660871 -- 61,398,454(+) ATGTA(C/T)GCGCC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TBX2 Gene

Variant ID Type Subtype PubMed ID
dgv43n68 CNV loss 17160897
dgv536n67 CNV gain 20364138
nsv1126466 CNV deletion 24896259
nsv518130 CNV gain 19592680
nsv952350 CNV deletion 24416366

Variation tolerance for TBX2 Gene

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)

Relevant External Links for TBX2 Gene

Human Gene Mutation Database (HGMD)
TBX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBX2 Gene

Disorders for TBX2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TBX2 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ulnar-mammary syndrome
  • pallister ulnar-mammary syndrome
chromosome 17q23.1-q23.2 deletion syndrome
  • 17q23.1-q23.2 microdeletion syndrome
inguinal hernia
  • hernia inguinal
- elite association - COSMIC cancer census association via MalaCards
Search TBX2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TBX2

Genetic Association Database (GAD)
TBX2
Human Genome Epidemiology (HuGE) Navigator
TBX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBX2
genes like me logo Genes that share disorders with TBX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBX2 Gene

Publications for TBX2 Gene

  1. 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 22 60
  2. 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 22 60
  3. 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 60
  4. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 45 60
  5. Genetic loci influencing kidney function and chronic kidney disease. (PMID: 20383145) Chambers JC … Kooner JS (Nature genetics 2010) 3 45 60

Products for TBX2 Gene

Sources for TBX2 Gene

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