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
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Genomic context

Location:: 17q23.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	17	NC_000017.11 (61399843..61409466)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (59477204..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?

TBX2, a Novel Regulator of Labour.
Title: TBX2, a Novel Regulator of Labour.
MicroRNA-7 targets T-Box 2 to inhibit epithelial-mesenchymal transition and invasiveness in glioblastoma multiforme.
Title: MicroRNA-7 targets T-Box 2 to inhibit epithelial-mesenchymal transition and invasiveness in glioblastoma multiforme.
Clinical significance of TBX2 in esophageal squamous cell carcinomas and its role in cell migration and invasion.
Title: Clinical significance of TBX2 in esophageal squamous cell carcinomas and its role in cell migration and invasion.
T allele of rs59382073 in TBX2 3'UTR contributes to greater congenital heart defects risk in the Han Chinese population
Title: Susceptibility to congenital heart defects associated with a polymorphism in TBX2 3' untranslated region in the Han Chinese population.
data demonstrate that TBX2 promotes suppression of normal growth control mechanisms through recruitment of a large repression complex to EGR1-responsive promoters leading to the uncontrolled proliferation of breast cancer cells
Title: TBX2 interacts with heterochromatin protein 1 to recruit a novel repression complex to EGR1-targeted promoters to drive the proliferation of breast cancer cells.
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.

Submit: New GeneRIF Correction See all GeneRIFs (45)

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

EBI GWAS Catalog

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

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: 396 organisms have orthologs with human gene TBX2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables histone deacetylase binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in aorta morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in atrioventricular canal development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in atrioventricular canal morphogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cardiac jelly development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell aging	IDA Inferred from Direct Assay more info	PubMed
involved_in cell fate specification	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cellular senescence	IDA Inferred from Direct Assay more info	PubMed
involved_in cochlea morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in developmental growth involved in morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic camera-type eye morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic digit morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic heart tube development	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocardial cushion formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocardial cushion morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial tube branching involved in lung morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in fibroblast growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info
involved_in mammary placode formation	IEA Inferred from Electronic Annotation more info
involved_in melanocyte proliferation	IEA Inferred from Electronic Annotation more info
involved_in mesenchymal cell proliferation involved in lung development	IEA Inferred from Electronic Annotation more info
involved_in muscle cell fate determination	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cardiac chamber formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cellular senescence	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cellular senescence	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of heart looping	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
involved_in neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in outflow tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in outflow tract septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in pharynx development	ISS Inferred from Sequence or Structural Similarity more info
involved_in pigment metabolic process involved in pigmentation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cardiac muscle cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell cycle G1/S phase transition	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of heart contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in roof of mouth development	IEA Inferred from Electronic Annotation more info
involved_in smooth muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in ureteric peristalsis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator 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

PHA03307
Location:300 → 467

PHA03307; transcriptional regulator ICP4; Provisional

pfam12598
Location:305 → 383

TBX; T-box transcription factor

cd20188
Location:103 → 287

T-box_TBX2_3-like; DNA-binding domain of T-box transcription factor 2 and 3, and related T-box proteins