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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 chromosome 17q23.1-q23.2 deletion syndrome and ulnar-mammary syndrome. Among its related pathways are Inhibition of Ribosome Biogenesis by p14(ARF) 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 TBX20.

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

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

Genomics for TBX2 Gene

Regulatory Elements for TBX2 Gene

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

Proteomics data for TBX2 Gene at MOPED

Post-translational modifications for TBX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TBX2 Gene

Domains & Families for TBX2 Gene

Gene Families for TBX2 Gene

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.
  • Contains 1 T-box DNA-binding domain.
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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for TBX2 Gene COMPARTMENTS Subcellular localization image for TBX2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for TBX2 Gene

Pathways & Interactions for TBX2 Gene

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

Pathways by source for TBX2 Gene

1 BioSystems pathway 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:0003151 outflow tract morphogenesis IEA,ISS --
GO:0003203 endocardial cushion morphogenesis IEA,ISS --
GO:0003256 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation 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:

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 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



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.
genes like me logo Genes that share expression patterns with TBX2: view

Primer Products

In Situ 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.

Orthologs for TBX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBX2 36
  • 100 (a)
OneToOne
TBX2 35
  • 99.67 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia TBX2 35
  • 91.48 (n)
  • 96.35 (a)
TBX2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBX2 36
  • 86 (a)
OneToOne
TBX2 35
  • 91.63 (n)
  • 96.29 (a)
mouse
(Mus musculus)
Mammalia Tbx2 36
  • 95 (a)
OneToOne
Tbx2 16
Tbx2 35
  • 89.7 (n)
  • 95.2 (a)
oppossum
(Monodelphis domestica)
Mammalia TBX2 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBX2 36
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBX2 35
  • 77.93 (n)
  • 80.3 (a)
TBX2 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 50 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC68420 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9437 35
tbx2 35
  • 69.34 (n)
  • 76.52 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2629 35
zebrafish
(Danio rerio)
Actinopterygii tbx2a 36
  • 68 (a)
OneToMany
tbx2b 36
  • 72 (a)
OneToMany
tbx2b 35
  • 66.42 (n)
  • 72.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta bi 37
  • 67 (a)
Doc1 37
  • 53 (a)
Doc2 37
  • 56 (a)
Doc3 37
  • 55 (a)
org-1 37
  • 57 (a)
bi 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbx-2 37
  • 61 (a)
tbx-8 37
  • 38 (a)
tbx-9 37
  • 39 (a)
tbx-2 36
  • 44 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7740 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToMany
Species with no ortholog for TBX2:
  • 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
rs1057986 -- 61,405,429(+) AGCGC(C/G)CCGAA reference, missense
rs1057987 -- 61,408,194(+) CGGAG(C/G/T)CCCTT reference, synonymous-codon
rs1057989 -- 61,408,433(+) ACTGC(A/T)GAGCA reference, missense
rs729781 -- 61,409,438(-) TTTCT(C/T)GCGTT utr-variant-3-prime
rs1135714 -- 61,407,980(+) CCAGG(A/G)GATAG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv43n68 CNV Loss 17160897
nsv518130 CNV Gain 19592680
nsv908663 CNV Loss 21882294
dgv3241n71 CNV Loss 21882294
dgv3242n71 CNV Loss 21882294
dgv536n67 CNV Gain 20364138

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

HapMap Linkage Disequilibrium report
TBX2
Human Gene Mutation Database (HGMD)
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: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
chromosome 17q23.1-q23.2 deletion syndrome
  • 17q23.1-q23.2 microdeletion syndrome
ulnar-mammary syndrome
  • schinzel 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 23 67
  2. T-box 2 represses NDRG1 through an EGR1-dependent mechanism to drive the proliferation of breast cancer cells. (PMID: 20348948) Redmond K.L. … Mullan P.B. (Oncogene 2010) 3 23
  3. The T-box transcription factor Tbx2: its role in development and possible implication in cancer. (PMID: 19960541) Abrahams A. … Prince S. (IUBMB Life 2010) 3 23
  4. Expression and clinical significance of tbx2 in pancreatic cancer. (PMID: 19469638) Duo S. … Xian-Wei D. (Asian Pac. J. Cancer Prev. 2009) 3 23
  5. Tbx3 represses E-cadherin expression and enhances melanoma invasiveness. (PMID: 18829543) Rodriguez M. … Goding C.R. (Cancer Res. 2008) 3 23

Products for TBX2 Gene

Sources for TBX2 Gene

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