PAX8

PAX8
	Structure de la protéine PAX8. Basé sur l'identifiant PDB 1k78.
Structures disponibles
PDB	Recherche d'orthologue: PDBe RCSB
Identifiants PDB
	2K27
Identifiants
Aliases	PAX8, Paired box gene 8
IDs externes	OMIM: 167415 MGI: 97492 HomoloGene: 2589 GeneCards: PAX8
Position du gène (Homme)
Chr.	Chromosome 2 humain
Fin	113,278,921 bp
Position du gène (Souris)
Chr.	Chromosome 2 (souris)
Fin	24,365,611 bp
Expression génétique
	Fortement exprimé dans
	right lobe of thyroid gland; ; left lobe of thyroid gland; ; right uterine tube; ; Médullaire rénale; ; caput epididymis; ; corpus epididymis; ; human kidney; ; tail of epididymis; ; muscle tibial antérieur; ; mucosa of ileum;
	Fortement exprimé dans
	thyroïde; ; right kidney; ; proximal tubule; ; inner renal medulla; ; connecting tubule; ; human kidney; ; lumbar subsegment of spinal cord; ; inner stripe of outer renal medulla; ; utérus; ; otic pit;
	Plus de données d'expression de référence
	; ; ; ;
	Plus de données d'expression de référence
Gene Ontology
Fonction moléculaire	liaison ADN; 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; thyroid-stimulating hormone receptor activity; liaison protéique; RNA polymerase II core promoter sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Composant cellulaire	nucléoplasme; noyau;
Processus biologique	regulation of apoptotic process; pronephros development; regulation of metanephric nephron tubule epithelial cell differentiation; différenciation cellulaire; mesonephric tubule development; positive regulation of branching involved in ureteric bud morphogenesis; kidney epithelium development; regulation of transcription, DNA-templated; positive regulation of metanephric DCT cell differentiation; negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis; negative regulation of apoptotic process involved in metanephric collecting duct development; kidney development; pronephric field specification; positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; morphogenèse d'une structure anatomique; metanephric epithelium development; mesenchymal to epithelial transition involved in metanephros morphogenesis; transcription by RNA polymerase II; regulation of thyroid-stimulating hormone secretion; transcription, DNA-templated; otic vesicle development; metanephric distal convoluted tubule development; negative regulation of mesenchymal cell apoptotic process involved in metanephros development; mesonephros development; régulation positive de la transcription dépendante de l'ADN; metanephric nephron tubule formation; développent d'un organisme multicellulaire; central nervous system development; metanephric comma-shaped body morphogenesis; branching involved in ureteric bud morphogenesis; thyroid gland development; positive regulation of thyroid hormone generation; negative regulation of apoptotic process involved in metanephric nephron tubule development; S-shaped body morphogenesis; inner ear morphogenesis; urogenital system development; sulfur compound metabolic process; metanephric S-shaped body morphogenesis; metanephros development; cellular response to gonadotropin stimulus; positive regulation of transcription by RNA polymerase II; thyroid-stimulating hormone signaling pathway; negative regulation of cardiac muscle cell apoptotic process; ventricular septum development;
	Sources:Amigo / QuickGO
Orthologues
	7849
	18510
	ENSG00000125618
	ENSMUSG00000026976
	Q06710
	Q00288
	NM_003466; NM_013951; NM_013952; NM_013953; NM_013992
	NM_011040
	NP_003457; NP_039246; NP_039247; NP_054698
	NP_035170
	Wikidata
Voir/Editer Humain	Voir/Editer Souris

Le PAX8 (pour « Paired box gene 8 ») est une protéine dont le gène, PAX8, est situé sur le chromosome 2 humain.

En médecine[modifier | modifier le code]

Il est exprimé dans les cellules rénales normales ainsi que dans presque totalité des tumeurs cancéreuses rénales (locales ou métastatiques), et dans une moindre proportion, en cas de tumeur à cellules claires^[5]. Sa recherche est ainsi un outil pour identifier l'origine d'une tumeur métastatique.

Notes et références[modifier | modifier le code]

↑ ^{a b et c} GRCh38: Ensembl release 89: ENSG00000125618 - Ensembl, May 2017
↑ ^{a b et c} GRCm38: Ensembl release 89: ENSMUSG00000026976 - 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
↑ Barr ML, Jilaveanu LB, Camp RL, Adeniran AJ, Kluger HM, Shuch B, PAX-8 expression in renal tumours and distant sites: a useful marker of primary and metastatic renal cell carcinoma?, J Clin Pathol, 2015;68:12-17

[refGRCh38Ensembl-1] {a b et c} GRCh38: Ensembl release 89: ENSG00000125618 - Ensembl, May 2017

[refGRCm38Ensembl-2] {a b et c} GRCm38: Ensembl release 89: ENSMUSG00000026976 - 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

[Barr_2015-5] Barr ML, Jilaveanu LB, Camp RL, Adeniran AJ, Kluger HM, Shuch B, PAX-8 expression in renal tumours and distant sites: a useful marker of primary and metastatic renal cell carcinoma?, J Clin Pathol, 2015;68:12-17

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