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FLASH GENE

Symbol

TBX20

contributors: mct/npt/pgu - updated : 04-08-2015

HGNC name	T-box 20
HGNC id	11598

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ASD4 atrial septal defects 4
Location	7p14.2      Physical location : 35.242.042 - 35.293.711
Synonym name	T-box transcription factor TBX20
	neuromancer
Synonym symbol(s)	NMR, ASD4

DNA

TYPE	functioning gene
STRUCTURE	51.20 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	BMP10 was able to induce TBX20 promoter activity through a conserved Smad binding site in the promoter proximal region

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - D7S656 - D7S497 - TBX20 - D7S2704 - D7S484 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001077653 8 - 1824 NP_001071121 50 445 restricted to the developing outflow tract with less myocardial expression 2011 21856288 TBX20a exons 1–6, 9, and 10 localized exclusively in the nucleus NM_001166220 6 - 1374 NP_001159692 33 297 - 2011 21856288 TBX20b, with a cytoplasmic and nuclear localization truncated after the T-box DNA-binding domain at 297 aa due to alternative splicing of exon 7 which contains a termination codon MKLN1 is a novel interacting partner to TBX20b can activate transcription more effectively than the longer isoform TBX20b and MKLN1 colocalize in the perinuclear cytoplasm

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart atrium

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining endocardium     Homo sapiens Muscular striatum cardiac myocardium   Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	heart, eye, limb, skin, in cardiac progenitor cells, as well as in the developing myocardium and endothelial cells associated with endocardial cushions

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a large N terminal DNA binding domain (T box)

HOMOLOGY

interspecies

homolog to Drosophila H15

Homologene

FAMILY

T-box family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	probable transcriptional regulator involved in developmental processes
	acts in a conserved regulatory network, guiding heart formation and patterning
	may be involved in the development of cardiomyopathy
	acts within a hierarchy of T-box factors in lineage specification and morphogenesis in the mammalian heart and is mutated in congenital heart disease
	critical cardiogenic transcription factor important for proliferation, chamber specification, and valvulogenesis
	has essential roles in regulating atrioventricular canal development that coordinate early cardiac chamber formation
	dual role for TBX20 as both a transcriptional activator and a repressor, and each of these functions regulates genes with very specialized and distinct molecular roles
	TBX20 regulates adult cardiomyocyte structure and function
	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
	TBX20 can be considered a KCNH2-modifying gene

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

BMP10-TBX20 signaling cascade is important for ventricular wall development and maturation

a component

INTERACTION

DNA	binding through T-box

RNA

small molecule

protein	TBX5 (co-expressed in the heart-forming region but then become differentially expressed as heart morphogenesis progresses)
	directly interferes with Bmp/Smad signaling to suppress TBX2 expression in the chambers, thereby confining TBX2 expression to the prospective atrioventricular canal region
	interacts with other cardiac developmental transcription factors, including GATA4, GATA5
	synergistic interactions between TBX20 and other cardiac transcription factors, including tinman/Nkx2–5, in regulating cardiac performance, rhythmicity, and cardiomyocyte structure
	interacting with muskelin (MKLN1), a primarily cytoplasmic protein with potential roles in signal transduction machinery scaffolding and nucleocytoplasmic protein shuttling
	is an activator of genes responsible for ion transport/contraction
	PPARG may be an important TBX20 co-factor activating energy metabolism genes in the adult heart while REST, a known transcriptional repressor, may act with TBX20 to silence genes controlling genetic programs unrelated to adult heart function
	TBX20 is a novel transcription factor regulating angiogenesis through the PROK2-PROKR1 (prokineticin receptor 1) pathway in both development and disease

cell & other

REGULATION

induced by

by bone morphogenetic protein-2

ASSOCIATED DISORDERS

corresponding disease(s)

ASD4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       associated with a complex spectrum of developmental and functional abnormalities, including defects in septation, valvulogenesis, and chamber growth and dilated cardiomyopathy constitutional germinal mutation       also associated with ASD and mitral valve disease constitutional     --over   in ventricular tissue from CHD patients which may cause an increased activity in cardiomyocytes constitutional germinal mutation     gain of function is associated with congenital atrial septal defects, patent foramen ovale and cardiac valve defects

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Tbx20 null mouse embryos display hypoplastic hearts and die at mid-gestation