TBX2 Gene (Protein Coding)

T-Box Transcription Factor 2

GC17P061399
GIFtS:
45
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

  • T-Box Transcription Factor 2 2 3
  • T-Box 2 2 3 5
  • T-Box Transcription Factor TBX2 3 4
  • T-Box Protein 2 3 4
  • VETD 3

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 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.

Gene Wiki entry for TBX2 Gene

Additional gene information for TBX2 Gene

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 for TBX2 Gene

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 UCSC Golden Path with GeneCards custom track

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
chr17:61,394,698-61,409,466
(GRCh38/hg38)
Size:
14,769 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:
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 Structure • Gene Density

RefSeq DNA sequence for TBX2 Gene

Proteins for TBX2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for TBX2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Protein Domains for TBX2 Gene

Blocks:
InterPro:
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

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
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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

Gene Ontology (GO) - Molecular Function 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 NAS 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
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

Clone Products

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.

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 0

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 IEA,IDA 15042700
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with TBX2: view

Pathways & Interactions for TBX2 Gene

PathCards logo

SuperPathways for TBX2 Gene

SuperPathway Contained pathways
1 Inhibition of Ribosome Biogenesis by p14(ARF)
Inhibition of Ribosome Biogenesis by p14(ARF)
-
2 Heart Development
Heart Development
-
3 Kit receptor signaling pathway
Kit receptor signaling pathway
.45
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
  • Inhibition of Ribosome Biogenesis by p14(ARF)

SIGNOR curated interactions for TBX2 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process 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 --
genes like me logo Genes that share ontologies with TBX2: view

Drugs & Compounds for TBX2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for TBX2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TBX2 Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(118) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for TBX2 Gene
mRNA expression by GTEx for TBX2 GenemRNA expression by BioGPS 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 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(3.1)
  • Heart(2.2)
  • Eye(2.1)
  • Kidney(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
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
genes like me logo Genes that share expression patterns with TBX2: view

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 33 32
  • 99.67 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia TBX2 33 32
  • 91.63 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia TBX2 33 32
  • 91.48 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Tbx2 17 33 32
  • 89.7 (n)
oppossum
(Monodelphis domestica)
 Mammalia TBX2 33
  • 89 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia TBX2 33
  • 57 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves TBX2 33 32
  • 77.93 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 33
  • 50 (a)
 ManyToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia tbx2 32
  • 69.34 (n)
Str.9437 32
African clawed frog
(Xenopus laevis)
 Amphibia MGC68420 32
zebrafish
(Danio rerio)
 Actinopterygii tbx2a 33
  • 68 (a)
 OneToMany
tbx2b 33 32 32
  • 66.42 (n)
 OneToMany
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2629 32
fruit fly
(Drosophila melanogaster)
 Insecta org-1 34
  • 57 (a)
Doc2 34
  • 56 (a)
Doc3 34
  • 55 (a)
Doc1 34
  • 53 (a)
bi 33 34
  • 28 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea tbx-2 33 34
  • 44 (a)
 OneToMany
tbx-9 34
  • 39 (a)
tbx-8 34
  • 38 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 32 (a)
 OneToMany
Cin.7740 32
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.7740 32
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)
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
genes like me logo Genes that share paralogs with TBX2: view

Variants for TBX2 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for TBX2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1364709483 pathogenic, TBX2-related condition, VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION, Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) [MIM:618223] 61,400,235(+) G/A coding_sequence_variant, missense_variant
rs1555877071 uncertain-significance, pathogenic, Inborn genetic diseases, VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION, Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) [MIM:618223] 61,404,632(+) G/A coding_sequence_variant, missense_variant
rs1000002796 -- 61,408,867(+) C/G/T 3_prime_UTR_variant
rs1000197126 -- 61,398,231(+) G/C upstream_transcript_variant
rs1000379778 -- 61,402,884(+) G/A/C intron_variant

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)

Additional Variant Information for TBX2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TBX2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TBX2 Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
vertebral anomalies and variable endocrine and t-cell dysfunction
  • vetd
ulnar-mammary syndrome
  • ums
pulmonary valve stenosis
  • heart valve pulmonary stenosis
double outlet right ventricle
  • dextrotransposition of aorta
inguinal hernia
  • hernia inguinal
- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with TBX2: view

No data available for 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 56
  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 23 56
  3. 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 56
  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 56
  5. Identification of 15 loci influencing height in a Korean population. (PMID: 19893584) Kim JJ … Lee JK (Journal of human genetics 2010) 3 43 56

ExternalLinks

View latest publications for TBX2 gene in Mastermind

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