TBX2 T-box transcription factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TBX2provided by HGNC
Official Full Name: T-box transcription factor 2provided by HGNC
Primary source: HGNC:HGNC:11597
See related: Ensembl:ENSG00000121068 MIM:600747
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: VETD
Summary: 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]
Expression: Broad expression in lung (RPKM 27.4), placenta (RPKM 24.9) and 18 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 17q23.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109.20190905	current	GRCh38.p13 (GCF_000001405.39)	17	NC_000017.11 (61399843..61409466)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (59477257..59486827)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The minor C allele of rs4455026 in TBX2 promoter region was related with lower congenital heart disease susceptibility in the Han Chinese population via repressing its transcriptional activity.
Title: A regulatory variant in TBX2 promoter is related to the decreased susceptibility of congenital heart disease in the Han Chinese population.
transcription factor TBX2 is able to restrain ADAM10 gene expression and that this mechanism might play a role in regulating cellular processes in health, development and disease.
Title: Transcriptional repression of the ectodomain sheddase ADAM10 by TBX2 and potential implication for Alzheimer's disease.
We report four individuals with an overlapping spectrum of craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments, reminiscent of DiGeorge syndrome, who are heterozygotes for TBX2 variants.
Title: Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Our results indicate that the R608W and R616Q variants of TBX2 as well as the A192T and A562V variants of TBX3 contribute to Conotruncal heart defects (CTDs)etiology; this was the first association of variants of TBX2 and TBX3 to CTDs based on a large population.
Title: Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing.
TBX2 is a neuroblastoma core regulatory circuitry component enhancing MYCN/FOXM1 reactivation of DREAM targets.
Title: TBX2 is a neuroblastoma core regulatory circuitry component enhancing MYCN/FOXM1 reactivation of DREAM targets.
The results indicated that the expression rates of TBX2 were significantly increased in the prostate cancerous tissues, compared with the healthy tumor adjacent tissue, and TBX2 increased staining was associated with the clinical stage and pathological grade.
Title: Effect of silencing the T‑Box transcription factor TBX2 in prostate cancer PC3 and LNCaP cells.
TBX2 is a central component of the PTEN/PI3K/AKT signaling pathway deregulation in RMS cells and that targeting TBX2 in RMS tumors may offer a novel therapeutic approach for RMS
Title: TBX2 represses PTEN in rhabdomyosarcoma and skeletal muscle.
this new molecular-grade based on the combination of TBX2 and TBX3 methylation is an excellent marker for predicting progression to muscle-invasive bladder cancer in patients with primary pTaG1/2 bladder cancer.
Title: Stratification based on methylation of TBX2 and TBX3 into three molecular grades predicts progression in patients with pTa-bladder cancer.
Our results suggest a conserved role of Tbx2-related proteins in cell invasion and metastasis-related processes
Title: The orthologous Tbx transcription factors Omb and TBX2 induce epithelial cell migration and extrusion in vivo without involvement of matrix metalloproteinases.
Data show that the down-regulation of T-box transcription factor TBX2 by transforming growth factor beta I (TGF-beta1) is mediated by T-box transcription factor TBX3.
Title: The anti-proliferative function of the TGF-β1 signaling pathway involves the repression of the oncogenic TBX2 by its homologue TBX3.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION MedGen: C4748741 OMIM: 618223 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated (2018-08-08) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated (2018-08-08) ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genetic loci influencing kidney function and chronic kidney disease. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Identification of 15 loci influencing height in a Korean population. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Many sequence variants affecting diversity of adult human height. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
New loci associated with kidney function and chronic kidney disease. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Heart Development, organism-specific biosystem (from WikiPathways)
Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
Kit receptor signaling pathway, organism-specific biosystem (from WikiPathways)
Kit receptor signaling pathway, organism-specific biosystemKit is a cytokine receptor that belongs to the type III receptor tyrosine kinase family. It is structurally similar to platelet-derived growth factor recpetors (PDGFRs), colony stimulating factor-1 r...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-W87459 (e-PCR)
- UniSTS:54706

TBX2_2169 (e-PCR)
- UniSTS:281043

PMC311067P4 (e-PCR)
- UniSTS:272875

Homology

Homologs of the TBX2 gene: The TBX2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 256 organisms have orthologs with human gene TBX2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	TAS Traceable Author Statement more info	PubMed
DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISM Inferred from Sequence Model more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	NAS Non-traceable Author Statement more info	PubMed
DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
RNA polymerase II activating transcription factor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
RNA polymerase II proximal promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
RNA polymerase II regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
Notch signaling pathway	IEA Inferred from Electronic Annotation more info
aorta morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
atrioventricular canal development	ISS Inferred from Sequence or Structural Similarity more info
cardiac chamber development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cardiac muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info
cell aging	IDA Inferred from Direct Assay more info	PubMed
cell fate specification	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cellular senescence	IDA Inferred from Direct Assay more info	PubMed
central nervous system development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
developmental growth involved in morphogenesis	IEA Inferred from Electronic Annotation more info
embryonic camera-type eye morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
embryonic digit morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
embryonic heart tube development	ISS Inferred from Sequence or Structural Similarity more info
endocardial cushion morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
heart looping	IBA Inferred from Biological aspect of Ancestor more info	PubMed
heart looping	ISS Inferred from Sequence or Structural Similarity more info
mammary placode formation	IEA Inferred from Electronic Annotation more info
muscle cell fate determination	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of cardiac chamber formation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of heart looping	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
outflow tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
outflow tract septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
pharynx development	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of cardiac muscle cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of cell proliferation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
regulation of heart contraction	ISS Inferred from Sequence or Structural Similarity more info
regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
roof of mouth development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
transcription factor complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: T-box transcription factor TBX2

Names: T-box 2; T-box protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005994.4 → NP_005985.3 T-box transcription factor TBX2

See identical proteins and their annotated locations for NP_005985.3

Status: VALIDATED

Source sequence(s)

AC005746, AW006595, BC052566, BM985069

Consensus CDS

CCDS11627.2

UniProtKB/Swiss-Prot

Q13207

UniProtKB/TrEMBL

A0A024QZ86

Related

ENSP00000240328.3, ENST00000240328.4

Conserved Domains (3) summary

pfam00907
Location:107 → 287

T-box; T-box

pfam12598
Location:305 → 383

TBX; T-box transcription factor

cl28033
Location:300 → 467

Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region