SOX9

SOX9
Structures disponibles PDB Recherche d'orthologue: PDBe RCSB Identifiants PDB 4EUW
Identifiants
Aliases	SOX9
IDs externes	OMIM: 608160 MGI: 98371 HomoloGene: 294 GeneCards: SOX9
Position du gène (Homme) Chr. Chromosome 17 humain[1] Locus 17q24.3 Début 72,121,020 bp[1] Fin 72,126,416 bp[1]
Position du gène (Souris) Chr. Chromosome 11 (souris)[2] Locus 11 E2|11 77.27 cM Début 112,673,050 bp[2] Fin 112,678,586 bp[2]
Expression génétique Bgee Humain Souris (orthologue) Fortement exprimé dans ventricular zone follicule pileux nerf optique parotide épithélium pigmentaire rétinien internal globus pallidus canal galactophore buccal mucosa cell cartilage tissue pylore Fortement exprimé dans digit organe cartilagineux os sphénoïde orteil basisphenoid glande lacrymale main bronchus second toe epithelium of seminiferous tubule of testis cervical loop Plus de données d'expression de référence BioGPS Plus de données d'expression de référence
Gene Ontology Fonction moléculaire DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific core promoter sequence-specific DNA binding protein kinase activity protein kinase A catalytic subunit binding beta-catenin binding pre-mRNA intronic binding liaison de chromatine liaison protéique liaison ADN sequence-specific DNA binding transcription cis-regulatory region binding bHLH transcription factor binding cis-regulatory region sequence-specific DNA binding protein heterodimerization activity transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding Composant cellulaire noyau transcription regulator complex nucléoplasme complexe macromoléculaire Processus biologique skeletal system development cellular response to retinoic acid bronchus cartilage development positive regulation of protein phosphorylation heart valve development limb bud formation positive regulation of protein catabolic process regulation of transcription by RNA polymerase II ureter morphogenesis negative regulation of immune system process chondrocyte development positive regulation of cell proliferation involved in heart morphogenesis oligodendrocyte differentiation chondrocyte hypertrophy prostate gland development lung smooth muscle development mammary gland development negative regulation of ossification negative regulation of photoreceptor cell differentiation cellular response to mechanical stimulus intrahepatic bile duct development regulation of cell adhesion negative regulation of chondrocyte differentiation positive regulation of mesenchymal cell proliferation astrocyte fate commitment positive regulation of chondrocyte differentiation spermatogenèse prostate gland morphogenesis negative regulation of epithelial cell proliferation lung epithelial cell differentiation chondrocyte differentiation involved in endochondral bone morphogenesis negative regulation of canonical Wnt signaling pathway endocrine pancreas development negative regulation of cell population proliferation regulation of apoptotic process cellular response to transforming growth factor beta stimulus negative regulation of mesenchymal cell apoptotic process Remodelage de la chromatine negative regulation of myoblast differentiation positive regulation of branching involved in ureteric bud morphogenesis cell fate commitment regulation of transcription, DNA-templated epidermal growth factor receptor signaling pathway ostéogenèse regulation of cell proliferation involved in tissue homeostasis ureter smooth muscle cell differentiation ERK1 and ERK2 cascade notochord development positive regulation of epithelial cell migration Sertoli cell differentiation détermination du sexe masculin negative regulation of gene expression transcription, DNA-templated metanephric nephron tubule formation régulation positive de la transcription dépendante de l'ADN développement du cœur regulation of branching involved in lung morphogenesis ureter urothelium development branching involved in ureteric bud morphogenesis cartilage development Harderian gland development positive regulation of kidney development central nervous system development heart valve formation positive regulation of cartilage development tissue homeostasis metanephric tubule development negative regulation of biomineral tissue development endochondral bone morphogenesis trachea cartilage development male germ-line sex determination lacrimal gland development voie de signalisation Notch hair follicle development différenciation cellulaire ureter development regulation of cell cycle process male gonad development positive regulation of epithelial cell proliferation cell fate specification intestinal epithelial structure maintenance positive regulation of extracellular matrix assembly extracellular matrix organization negative regulation of apoptotic process negative regulation of transcription by RNA polymerase II Sertoli cell development positive regulation of mesenchymal stem cell differentiation retina development in camera-type eye cellular response to interleukin-1 Transition épithélio-mésenchymateuse homeostasis of number of cells within a tissue negative regulation of transcription, DNA-templated cAMP-mediated signaling cartilage condensation positive regulation of male gonad development assemblage du nucléosome negative regulation of bone mineralization morphogenesis of a branching epithelium neural crest cell development protein kinase B signaling somatic stem cell population maintenance otic vesicle formation otic vesicle development endocardial cushion morphogenesis cellular response to epidermal growth factor stimulus positive regulation of epithelial cell differentiation renal vesicle induction positive regulation of gene expression regulation of epithelial cell proliferation involved in lung morphogenesis regulation of cell population proliferation heart valve morphogenesis cytoskeleton organization cochlea morphogenesis positive regulation of cell population proliferation epithelial cell proliferation involved in prostatic bud elongation retinal rod cell differentiation protein localization to nucleus régulation de la différenciation cellulaire positive regulation of phosphatidylinositol 3-kinase signaling cellular response to heparin negative regulation of epithelial cell differentiation epithelial tube branching involved in lung morphogenesis transduction de signal positive regulation of transcription by RNA polymerase II negative regulation of pri-miRNA transcription by RNA polymerase II chondrocyte differentiation neural crest cell fate specification cellular response to BMP stimulus cell-cell adhesion transcription initiation from RNA polymerase II promoter protein-containing complex assembly anterior head development morphogenesis of an epithelium aortic valve morphogenesis régulation de l'expression des gènes Sources:Amigo / QuickGO
Orthologues Espèces Homme Souris Entrez 6662 20682 Ensembl ENSG00000125398 ENSMUSG00000000567 UniProt P48436 Q04887 RefSeq (mRNA) NM_000346 NM_011448 RefSeq (protéine) NP_000337 NP_035578 Localisation (UCSC) Chr 17: 72.12 – 72.13 Mb Chr 11: 112.67 – 112.68 Mb Publication PubMed [3] [4]
Wikidata
Voir/Editer Humain Voir/Editer Souris

Le SOX9 est un facteur de transcription. Son gène est SOX9 porté sur le chromosome 17 humain.

Rôles

Avec le SOX6 et le SOX5, il favorise la différenciation des chondrocytes et la formation des cartilages[5].

Il intervient dans l'embryogenèse cardiaque[6], en particulier au niveau des valves[7]. Chez l'adulte, il protégerait contre la calcification de ces dernières[8].

En médecine

Une mutation du gène entraîne une dysplasie testiculaire chez les patients de caryotype XX, avec pour conséquence, une intersexuation[9]. Il peut être également responsable de la dysplasie campomélique[10].

Notes et références

1. GRCh38: Ensembl release 89: ENSG00000125398 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000000567 - 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
5. Ikeda T, Kamekura S, Mabuchi A et al. The combination of SOX5, SOX6, and SOX9 (the SOX trio) provides signals sufficient for induction of permanent cartilage, Arthritis Rheum, 2004;50:3561–3573
6. Akiyama H, Chaboissier MC, Behringer RR, Rowitch DH, Schedl A, Epstein JA, de Crombrugghe B, Essential role of Sox9 in the pathway that controls formation of cardiac valves and septa, Proc Natl Acad Sci U S A, 2004;101:6502–6507
7. Lincoln J, Kist R, Scherer G, Yutzey KE, Sox9 is required for precursor cell expansion and extracellular matrix organization during mouse heart valve development, Dev Biol, 2007;305:120–132
8. Peacock JD, Levay AK, Gillaspie DB, Tao G, Lincoln J, Reduced sox9 function promotes heart valve calcification phenotypes in vivo, Circ Res, 2010;106:712–719
9. Cox JJ, Willatt L, Homfray T; Woods CG, A SOX9 Duplication and Familial 46,XX Developmental Testicular Disorder, N Engl J Med, 2011;364:91–93
10. Ninomiya S, Isomura M, Narahara K, Seino Y, Nakamura Y, Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal, Hum Mol Genet, 1996;5:69–72