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Aliases for TBX2 Gene

Aliases for TBX2 Gene

  • T-Box 2 2 3
  • 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 17q23.1q23.2 microdeletion syndrome and ulnar-mammary syndrome. Among its related pathways are Heart Development and Inhibition of Ribosome Biogenesis by p14(ARF). GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TBX2 Gene

Start:
61,399,896 bp from pter
End:
61,409,466 bp from pter
Size:
9,571 bases
Orientation:
Plus strand

Genomic View for TBX2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:

No data available for DME Specific Peptides for TBX2 Gene

Domains for TBX2 Gene

Gene Families for TBX2 Gene

HGNC:

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 :
  • Q13207
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.

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 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA 11111039
GO:0003677 DNA binding TAS 8530034
GO:0003700 sequence-specific DNA binding transcription factor activity --
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

Animal Models for TBX2 Gene

MGI Knock Outs for TBX2:

Animal Model Products

CRISPR Products

miRNA for TBX2 Gene

miRTarBase miRNAs that target TBX2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 4
cytosol 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TBX2 Gene

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

Pathways for TBX2 Gene

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

Pathways by source for TBX2 Gene

1 Qiagen pathway for TBX2 Gene
1 BioSystems pathway for TBX2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0003007 heart morphogenesis --
GO:0003148 outflow tract septum morphogenesis ISS --
GO:0003151 outflow tract morphogenesis ISS --
GO:0003203 endocardial cushion morphogenesis ISS --
genes like me logo Genes that share ontologies with TBX2: view

Transcripts for TBX2 Gene

Unigene Clusters for TBX2 Gene

T-box 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TBX2

Primer Products

Flow Cytometry Products

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 (5.3) and Artery - Coronary (4.9).

Integrated Proteomics: protein expression 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 expressions with TBX2: view

In Situ Assay Products

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 35
  • 99.67 (n)
  • 100 (a)
TBX2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBX2 35
  • 91.48 (n)
  • 96.35 (a)
TBX2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBX2 35
  • 91.63 (n)
  • 96.29 (a)
TBX2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbx2 35
  • 89.7 (n)
  • 95.2 (a)
Tbx2 16
Tbx2 36
  • 95 (a)
OneToOne
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 35
  • 66.42 (n)
  • 72.43 (a)
tbx2b 36
  • 72 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta bi 36
  • 28 (a)
OneToMany
bi 37
  • 67 (a)
Doc3 37
  • 55 (a)
Doc2 37
  • 56 (a)
org-1 37
  • 57 (a)
Doc1 37
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea tbx-2 36
  • 44 (a)
OneToMany
tbx-9 37
  • 39 (a)
tbx-2 37
  • 61 (a)
tbx-8 37
  • 38 (a)
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

Selected 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 MAF
rs729781 -- 61,409,438(-) TTTCT(C/T)GCGTT utr-variant-3-prime
rs729782 -- 61,409,412(-) TCGCT(C/G)CGGAG utr-variant-3-prime
rs734375 -- 61,404,012(-) CACGG(A/G)CTCGC intron-variant
rs887258 -- 61,402,219(-) TTGAC(C/G)GTACA intron-variant
rs1057986 -- 61,405,429(+) AGCGC(C/G)CCGAA missense, reference

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

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

(2) Novoseek inferred disease relationships for TBX2 Gene

Disease -log(P) Hits PubMed IDs
melanoma 39.6 11
cancer 28.2 9

Relevant External Links for TBX2

Genetic Association Database (GAD)
TBX2
Human Genome Epidemiology (HuGE) Navigator
TBX2
genes like me logo Genes that share disorders with TBX2: view

No data available for UniProtKB/Swiss-Prot 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
  2. Identification, characterization, and localization to chromosome 17q21-22 of the human TBX2 homolog, member of a conserved developmental gene family. (PMID: 8597636) Law D.J. … Silver L.M. (Mamm. Genome 1995) 3 4 23
  3. Brachyury-related transcription factor Tbx2 and repression of the melanocyte-specific TRP-1 promoter. (PMID: 9710594) Carreira S. … Goding C.R. (Mol. Cell. Biol. 1998) 3 23
  4. Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation. (PMID: 12023302) Habets P.E. … Christoffels V.M. (Genes Dev. 2002) 3 23
  5. T-box transcription factor Tbx2 represses differentiation and formation of the cardiac chambers. (PMID: 15042700) Christoffels V.M. … Campione M. (Dev. Dyn. 2004) 3 23

Products for TBX2 Gene

Sources for TBX2 Gene

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