FOXC2

FOXC2
Structures disponibles
PDB	Recherche d'orthologue: PDBe RCSB
Identifiants PDB
	1D5V
Identifiants
Aliases	FOXC2
IDs externes	OMIM: 602402 MGI: 1347481 HomoloGene: 21091 GeneCards: FOXC2
Position du gène (Homme)
Chr.	Chromosome 16 humain
Fin	86,569,728 bp
Position du gène (Souris)
Chr.	Chromosome 8 (souris)
Fin	121,845,634 bp
Expression génétique
	Fortement exprimé dans
	veine cave; ; palpebral conjunctiva; ; artère poplitée; ; Ganglion de Gasser; ; urètre; ; aorte ascendante; ; ganglion sensitif d’un nerf spinal; ; ventricule droit; ; artère coronaire droite; ; artère coronaire gauche;
	Fortement exprimé dans
	aorte ascendante; ; corpuscule rénal; ; nerf optique; ; valve aortique; ; somite; ; Sclérotome; ; glande lacrymale; ; endocardial cushion; ; atrium; ; glomérule rénal;
	Plus de données d'expression de référence
	n/a
Gene Ontology
Fonction moléculaire	sequence-specific DNA binding; liaison ADN; DNA-binding transcription factor activity; DNA-binding transcription activator activity, RNA polymerase II-specific; liaison protéique; identical protein binding; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding; chromatin DNA binding; promoter-specific chromatin binding; DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding;
Composant cellulaire	noyau; nucléoplasme; corps nucléaire;
Processus biologique	voie de signalisation Notch; Somitogenèse; embryonic skeletal system morphogenesis; skeletal system development; insulin receptor signaling pathway; ureteric bud development; regulation of transcription, DNA-templated; positive regulation of cell migration involved in sprouting angiogenesis; neural crest cell development; paraxial mesoderm formation; paraxial mesodermal cell fate commitment; ostéogenèse; lymphangiogenesis; collagen fibril organization; kidney development; glomerular mesangial cell development; heart morphogenesis; negative regulation of transcription by RNA polymerase II; cardiac muscle cell proliferation; lymph vessel development; transcription, DNA-templated; embryonic heart tube development; positive regulation of endothelial cell migration; régulation positive de la transcription dépendante de l'ADN; développent d'un organisme multicellulaire; ventricular cardiac muscle tissue morphogenesis; développement du cœur; blood vessel remodeling; vascular endothelial growth factor receptor signaling pathway; blood vessel development; positive regulation of vascular wound healing; artery morphogenesis; branching involved in blood vessel morphogenesis; glomerular visceral epithelial cell differentiation; response to hormone; embryonic viscerocranium morphogenesis; embryonic cranial skeleton morphogenesis; camera-type eye development; glomerular endothelium development; positive regulation of cell adhesion mediated by integrin; mesoderm development; regulation of organ growth; metanephros development; prolifération cellulaire; positive regulation of transcription by RNA polymerase II; negative regulation of apoptotic process involved in outflow tract morphogenesis; transcription by RNA polymerase II; différenciation cellulaire; regulation of transcription by RNA polymerase II; morphogenèse d'une structure anatomique; negative regulation of cold-induced thermogenesis;
	Sources:Amigo / QuickGO
Orthologues
	2303
	14234
	ENSG00000176692
	ENSMUSG00000046714
	Q99958
	Q61850
	NM_005251
	NM_013519
	NP_005242
	NP_038547
	Wikidata
Voir/Editer Humain	Voir/Editer Souris

Le FOXC2 (pour « Forkhead box protein C2 ») est une protéine de type facteur de transcription appartenant à la famille de protéines FOX. Son gène est le FOXC2 situé sur le chromosome 16 humain.

Rôles modifier

Il intervient dans la formation des vaisseaux lymphatiques en interagissant avec le NFATc1^[5]. Avec le PROX1, il agit sur la connexine 37 et la calcineurine dans la formation du système valvulaire de ces vaisseaux^[6]. Il permet la constitution du cytosquelette et des jonctions inter-cellulaires au niveau de ces vaisseaux^[7].

En médecine modifier

Une mutation du gène provoque le syndrome lymphœdème-distichiasis^[8].

Notes et références modifier

↑ ^{a b et c} GRCh38: Ensembl release 89: ENSG00000176692 - Ensembl, May 2017
↑ ^{a b et c} GRCm38: Ensembl release 89: ENSMUSG00000046714 - 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
↑ Norrmen C, Ivanov KI, Cheng J et al. FOXC2 controls formation maturation of lymphatic collecting vessels through cooperation with NFATc1J Cell Biol, 2009;185:439–457
↑ Sabine A, Agalarov Y, Maby-El Hajjami H et al. Mechanotransduction, PROX1, and FOXC2 cooperate to control connexin37 calcineurin during lymphatic-valve formation, Dev Cell, 2012;22:430–445
↑ Sabine A, Bovay E, Demir CS et al. FOXC2 and fluid shear stress stabilize postnatal lymphatic vasculature, J Clin Investig, 2015;125:3861-3877
↑ Mellor RH, Tate N, Stanton AW et al. Mutations in FOXC2 in humans (lymphoedema distichiasis syndrome) cause lymphatic dysfunction on dependency, J Vasc Res, 2011;48:397–407

[refGRCh38Ensembl-1] {a b et c} GRCh38: Ensembl release 89: ENSG00000176692 - Ensembl, May 2017

[refGRCm38Ensembl-2] {a b et c} GRCm38: Ensembl release 89: ENSMUSG00000046714 - 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

[Norrmen_2011-5] Norrmen C, Ivanov KI, Cheng J et al. FOXC2 controls formation maturation of lymphatic collecting vessels through cooperation with NFATc1J Cell Biol, 2009;185:439–457

[Sabine_2012-6] Sabine A, Agalarov Y, Maby-El Hajjami H et al. Mechanotransduction, PROX1, and FOXC2 cooperate to control connexin37 calcineurin during lymphatic-valve formation, Dev Cell, 2012;22:430–445

[Sabine_2015-7] Sabine A, Bovay E, Demir CS et al. FOXC2 and fluid shear stress stabilize postnatal lymphatic vasculature, J Clin Investig, 2015;125:3861-3877

[Mellor_2011-8] Mellor RH, Tate N, Stanton AW et al. Mutations in FOXC2 in humans (lymphoedema distichiasis syndrome) cause lymphatic dysfunction on dependency, J Vasc Res, 2011;48:397–407

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]