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FLASH GENE

Symbol

TBX2

contributors: mct/pgu - updated : 29-08-2016

HGNC name	T-box 2
HGNC id	11597

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a large N-terminal T-box DNA-binding domain

HOMOLOGY

interspecies	homolog to rattus TBX2 (91.6 pc)
	homolog to murine Tbx2 (95.6 pc)

Homologene

FAMILY

T-box family

CATEGORY

DNA associated , transcription factor , protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	involved in the transcriptional regulation of genes required for mesoderm differentiation
	probably playing a role in limb pattern formation
	may have a potential role in tumorigenesis as an immortalizing agent
	as TBX3 may play a dual role during the radial to vertical growth phase transition by both inhibiting senescence via repression of CDKN1A expression, and enhancing melanoma invasiveness by decreasing E-cadherin level
	T-box transcriptional repressor, functioning to demarcate the territory of the pronephric nephron
	novel role for TBX2 in tooth development
	TBX2 mediates BMP signal to down-regulate FGF signaling pathway by repressing FLRT3 expression for anterior tissue formation
	TBX2, TBX3, TBX4, TBX5 and three members of TBX1 (TBX1, TBX15, TBX18), Brachyury (T) and Eomes (TBR2) are expressed in the developing limb
	TBX18 and other members of the T-box gene family, namely, TBX1, TBX2, TBX3, and TBX20, play additional roles in development and homeostasis of other components of the excretory system

CELLULAR PROCESS	cell life, proliferation/growth
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

text	regulation
	anteroposterior axis
	positive regulation of cell proliferation
	cardiac muscle development
	mammary gland development
	negative regulation of transcription from RNA polymerase II promoter

PATHWAY

metabolism

signaling

a component

TBX2/MAGED1 complex protected cells against anoikis by downregulating CDKN2A

INTERACTION

DNA	binding through T-box

RNA

small molecule

protein	CDKN2A repression
	E2F1, MYC or HRAS activation
	has a central part in directing HAS2 and TTGFB2 expression, facilitating endocardial cushion formation
	targets NDRG1 through a previously undescribed mechanism involving the recruitment of early growth response 1 (EGR1)
	interacts with EGR1 and TBX2 requires EGR1 to target the NDRG1 proximal promoter
	PML and TBX2 act in an autoregulatory loop to control the effective execution of the senescence program 7)
	TBX2-mediated regulation of CDKN1A and CDKN1B represents a crucial node in the network integrating patterning information and cell cycle regulation that underlies growth, differentiation, and branching morphogenesis of this organ
	CNBP up-regulates TBX2 and SMARCA5, and down-regulates WNT5B gene expression
	TBX2 acts as regulator of melanogenesis by repressing the expression of the gene encoding the melanosomal protein OCA2
	TBX2, which is a target gene of BMP signal, down-regulates FGF8 signaling by inhibiting the expression of FLRT3, a positive regulator of this pathway

cell & other

REGULATION

Other

regulated by MITF

ASSOCIATED DISORDERS

corresponding disease(s)

DEL17Q23

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification     in primary breast and ovarian cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive uterus PSCA and TBX2 might be candidate targets for cancer therapy in endometrial adenocarcinoma

ANIMAL & CELL MODELS

	Tbx2 in the embryonic mouse heart at early stages of development throughout the myocardium of the heart tube both represses proliferation and impairs secondary heart field (SHF) progenitor cell deployment into the outflow tract (OFT), implicating the upregulation of Ndrg2 and downregulation of Ndrg4 expression
	lungs of Tbx2-deficient mice are markedly hypoplastic and exhibit reduced branching morphogenesis