TBX20

TBX20
Identifiants
Aliases	TBX20
IDs externes	OMIM: 606061 MGI: 1888496 HomoloGene: 32476 GeneCards: TBX20
Position du gène (Homme)
Chr.	Chromosome 7 humain
Fin	35,254,100 bp
Position du gène (Souris)
Chr.	Chromosome 9 (souris)
Fin	24,685,599 bp
Expression génétique
	Fortement exprimé dans
	ventricule gauche; ; artère coronaire droite; ; vésicule biliaire; ; artère coronaire gauche; ; vessie; ; aorte ascendante; ; placenta; ; hypophyse; ; foie; ; anté-hypophyse;
	Fortement exprimé dans
	valve aortique; ; atrium; ; valve auriculo-ventriculaire; ; endocardial cushion; ; myocarde; ; myocardium of ventricle; ; aorte ascendante; ; cordon ombilical; ; iris; ; atrium droit;
	Plus de données d'expression de référence
	n/a
Gene Ontology
Fonction moléculaire	liaison ADN; transcription coactivator activity; RNA polymerase II transcription regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity; DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Composant cellulaire	cytoplasme; noyau;
Processus biologique	cardiac septum development; pulmonary vein morphogenesis; contraction musculaire; regulation of transcription, DNA-templated; negative regulation of SMAD protein complex assembly; aortic valve morphogenesis; outflow tract morphogenesis; cardiac muscle tissue morphogenesis; migration d'un neurone; negative regulation of transcription by RNA polymerase II; transcription by RNA polymerase II; circulation sanguine; transcription, DNA-templated; pulmonary valve formation; embryonic heart tube development; outflow tract septum morphogenesis; endocardial cushion morphogenesis; heart looping; endocardial cushion formation; atrial septum morphogenesis; développent d'un organisme multicellulaire; régulation positive de la transcription dépendante de l'ADN; lateral mesoderm formation; positive regulation of cardiac muscle cell proliferation; visceral motor neuron differentiation; embryonic heart tube morphogenesis; aortic valve development; pericardium morphogenesis; branching involved in blood vessel morphogenesis; cardiac chamber formation; endoderm formation; prolifération cellulaire; negative regulation of transcription, DNA-templated; dorsal/ventral pattern formation; cardiac right ventricle morphogenesis; foramen ovale closure; tricuspid valve development; positive regulation of transcription by RNA polymerase II; embryonic heart tube elongation;
	Sources:Amigo / QuickGO
Orthologues
	57057
	57246
	ENSG00000164532
	ENSMUSG00000031965
	Q9UMR3
	Q9ES03
	NM_020417; NM_001077653; NM_001166220
	NM_001205085; NM_020496; NM_194263
	NP_001071121; NP_001159692
	NP_001192014; NP_065242; NP_919239
	Wikidata
Voir/Editer Humain	Voir/Editer Souris

Le TBX20 est un facteur de transcription appartenant à la famille des T-box. Son gène est le TBX20 situé sur le chromosome 7 humain.

Rôles modifier

Il intervient dans l'embryogenèse cardiaque^[5]. En particulier, au niveau de la chambre de chasse ventriculaire, le TBX20 réprime le TBX2, ce dernier diminuant l'expression du NMYC1^[6]. Il régule le développement des différentes lignées des cardiomyocytes^[7]. Il réprime également le p21, le MEIS1 et le BTG2, assurant la prolifération des cellules musculaires cardiaques^[8].

Il favorise l'angiogenèse par la migration des cellules endothéliales en jouant sur la voie du PROK2-PROKR1^[9].

En médecine modifier

Une mutation du gène, entraînant une augmentation de l'activité de la protéine, favoriserait la formation d'anomalies cardiaques de type communication interauriculaire^[10]. D'autres mutations entraînent une atteinte du myocarde ou du développement des valves cardiaques^[11].

Notes et références modifier

↑ ^{a b et c} GRCh38: Ensembl release 89: ENSG00000164532 - Ensembl, May 2017
↑ ^{a b et c} GRCm38: Ensembl release 89: ENSMUSG00000031965 - Ensembl, May 2017
↑ « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine
↑ « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine
↑ Greulich F, Rudat C, Kispert A, Mechanisms of T-box gene function in the developing heart, Cardiovasc Res, 2011;91:212–222
↑ Cai CL, Zhou W, Yang L et al. T-box genes coordinate regional rates of proliferation and regional specification during cardiogenesis, Development, 2005;132:2475–2487
↑ Chakraborty S, Yutzey KE, Tbx20 regulation of cardiac cell proliferation and lineage specialization during embryonic and fetal development in vivo, Dev Biol, 2012;363:234–246
↑ Xiang FL, Guo M, Yutzey KE, Overexpression of Tbx20 in adult cardiomyocytes promotes proliferation and improves cardiac function after myocardial infarction, Circulation, 2016;133:1081-1092
↑ Meng S, Gu Q, Yang X et al. TBX20 regulates angiogenesis through the prokineticin 2–prokineticin receptor 1 pathway, Circulation, 2018;138:913-928
↑ Posch MG, Gramlich M, Sunde M et al. A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects, J Med Genet, 2010;47:230–235
↑ Kirk EP, Sunde M, Costa MW et al. Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy, Am J Hum Genet, 2007;81:280–291

[refGRCh38Ensembl-1] {a b et c} GRCh38: Ensembl release 89: ENSG00000164532 - Ensembl, May 2017

[refGRCm38Ensembl-2] {a b et c} GRCm38: Ensembl release 89: ENSMUSG00000031965 - Ensembl, May 2017

[3] « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine

[4] « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine

[Greulich_2011-5] Greulich F, Rudat C, Kispert A, Mechanisms of T-box gene function in the developing heart, Cardiovasc Res, 2011;91:212–222

[Cai_2005-6] Cai CL, Zhou W, Yang L et al. T-box genes coordinate regional rates of proliferation and regional specification during cardiogenesis, Development, 2005;132:2475–2487

[Chakraborty_2012-7] Chakraborty S, Yutzey KE, Tbx20 regulation of cardiac cell proliferation and lineage specialization during embryonic and fetal development in vivo, Dev Biol, 2012;363:234–246

[Xiang_2016-8] Xiang FL, Guo M, Yutzey KE, Overexpression of Tbx20 in adult cardiomyocytes promotes proliferation and improves cardiac function after myocardial infarction, Circulation, 2016;133:1081-1092

[Meng_2018-9] Meng S, Gu Q, Yang X et al. TBX20 regulates angiogenesis through the prokineticin 2–prokineticin receptor 1 pathway, Circulation, 2018;138:913-928

[Posch_2010-10] Posch MG, Gramlich M, Sunde M et al. A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects, J Med Genet, 2010;47:230–235

[Kirk_2007-11] Kirk EP, Sunde M, Costa MW et al. Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy, Am J Hum Genet, 2007;81:280–291

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