SOX9

SOX9
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4EUW
Identifiers
Aliases	SOX9, CMD1, CMPD1, SRA1, SRXX2, SRXY10, SRY-box 9, SRY-box transcription factor 9
External IDs	OMIM: 608160; MGI: 98371; HomoloGene: 294; GeneCards: SOX9; OMA:SOX9 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	72,126,416 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	112,678,586 bp
RNA expression pattern
	Top expressed in
	ventricular zone; ; hair follicle; ; optic nerve; ; parotid gland; ; retinal pigment epithelium; ; internal globus pallidus; ; lactiferous duct; ; buccal mucosa cell; ; cartilage tissue; ; pylorus;
	Top expressed in
	digit; ; cartilage organ; ; sphenoid bone; ; toe; ; basisphenoid; ; lacrimal gland; ; main bronchus; ; second toe; ; epithelium of seminiferous tubule of testis; ; cervical loop;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	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; chromatin binding; protein binding; DNA binding; 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;
Cellular component	nucleus; transcription regulator complex; nucleoplasm; protein-containing complex;
Biological process	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; spermatogenesis; 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; chromatin remodeling; 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; ossification; 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; male sex determination; negative regulation of gene expression; transcription, DNA-templated; metanephric nephron tubule formation; positive regulation of transcription, DNA-templated; heart development; 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; Notch signaling pathway; hair follicle development; cell differentiation; 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; epithelial to mesenchymal transition; 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; nucleosome assembly; 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; regulation of cell differentiation; positive regulation of phosphatidylinositol 3-kinase signaling; cellular response to heparin; negative regulation of epithelial cell differentiation; epithelial tube branching involved in lung morphogenesis; signal transduction; 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; regulation of gene expression;
	Sources:Amigo / QuickGO
Orthologs
	6662
	20682
	ENSG00000125398
	ENSMUSG00000000567
	P48436
	Q04887
	NM_000346
	NM_011448
	NP_000337
	NP_035578
	Wikidata
View/Edit Human	View/Edit Mouse

Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene.^[5]^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000125398 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000000567 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, et al. (June 1993). "Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1". Nature Genetics. 4 (2): 170–174. doi:10.1038/ng0693-170. PMID 8348155. S2CID 12263655.
^ "Entrez Gene: SOX9 SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000125398 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000000567 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8348155-5] Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, et al. (June 1993). "Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1". Nature Genetics. 4 (2): 170–174. doi:10.1038/ng0693-170. PMID 8348155. S2CID 12263655.

[entrez-6] "Entrez Gene: SOX9 SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)".

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