InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SOX9

Summary

InnateDB Protein

IDBP-66622.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SOX9

Protein Name

SRY (sex determining region Y)-box 9

Synonyms

CMD1; CMPD1; SRA1;

Species

Homo sapiens

Ensembl Protein

ENSP00000245479

InnateDB Gene

IDBG-66620 (SOX9)

Protein Structure

UniProt Annotation

Function

Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00267}.

Disease Associations

Campomelic dysplasia (CMD1) [MIM:114290]: Rare, often lethal, dominantly inherited, congenital osteochondrodysplasia, associated with male-to-female autosomal sex reversal in two- thirds of the affected karyotypic males. A disease of the newborn characterized by congenital bowing and angulation of long bones, unusually small scapulae, deformed pelvis and spine and a missing pair of ribs. Craniofacial defects such as cleft palate, micrognathia, flat face and hypertelorism are common. Various defects of the ear are often evident, affecting the cochlea, malleus incus, stapes and tympanum. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. {ECO:0000269PubMed:10446171, ECO:0000269PubMed:10951468, ECO:0000269PubMed:11323423, ECO:0000269PubMed:11754051, ECO:0000269PubMed:12783851, ECO:0000269PubMed:19921652, ECO:0000269PubMed:20513132, ECO:0000269PubMed:7485151, ECO:0000269PubMed:9002675, ECO:0000269PubMed:9452059}. Note=The disease is caused by mutations affecting the gene represented in this entry.46,XX sex reversal 2 (SRXX2) [MIM:278850]: A condition in which male gonads develop in a genetic female (female to male sex reversal). {ECO:0000269PubMed:21208124}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Experimentally validated
Total	22 [view]
Protein-Protein	20 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000976	transcription regulatory region sequence-specific DNA binding
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0001046	core promoter sequence-specific DNA binding
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001158	enhancer sequence-specific DNA binding
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0004672	protein kinase activity
GO:0005515	protein binding
GO:0008013	beta-catenin binding
GO:0034236	protein kinase A catalytic subunit binding
GO:0035326	enhancer binding
GO:0043425	bHLH transcription factor binding
GO:0043565	sequence-specific DNA binding
GO:0044212	transcription regulatory region DNA binding
GO:0046982	protein heterodimerization activity
GO:0097157	pre-mRNA intronic binding

Biological Process

GO:0001501	skeletal system development
GO:0001502	cartilage condensation
GO:0001503	ossification
GO:0001658	branching involved in ureteric bud morphogenesis
GO:0001708	cell fate specification
GO:0001837	epithelial to mesenchymal transition
GO:0001894	tissue homeostasis
GO:0001934	positive regulation of protein phosphorylation
GO:0001942	hair follicle development
GO:0002053	positive regulation of mesenchymal cell proliferation
GO:0002062	chondrocyte differentiation
GO:0002063	chondrocyte development
GO:0002683	negative regulation of immune system process
GO:0003170	heart valve development
GO:0003179	heart valve morphogenesis
GO:0003188	heart valve formation
GO:0003203	endocardial cushion morphogenesis
GO:0003413	chondrocyte differentiation involved in endochondral bone morphogenesis
GO:0003415	chondrocyte hypertrophy
GO:0006334	nucleosome assembly
GO:0006338	chromatin remodeling
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006366	transcription from RNA polymerase II promoter
GO:0006461	protein complex assembly
GO:0006468	protein phosphorylation
GO:0007010	cytoskeleton organization
GO:0007165	signal transduction
GO:0007173	epidermal growth factor receptor signaling pathway
GO:0007283	spermatogenesis
GO:0007417	central nervous system development
GO:0007507	heart development
GO:0008284	positive regulation of cell proliferation
GO:0008285	negative regulation of cell proliferation
GO:0008584	male gonad development
GO:0010564	regulation of cell cycle process
GO:0010628	positive regulation of gene expression
GO:0010634	positive regulation of epithelial cell migration
GO:0014032	neural crest cell development
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling
GO:0016337	single organismal cell-cell adhesion
GO:0019100	male germ-line sex determination
GO:0019933	cAMP-mediated signaling
GO:0030154	cell differentiation
GO:0030155	regulation of cell adhesion
GO:0030198	extracellular matrix organization
GO:0030238	male sex determination
GO:0030279	negative regulation of ossification
GO:0030502	negative regulation of bone mineralization
GO:0030850	prostate gland development
GO:0030857	negative regulation of epithelial cell differentiation
GO:0030858	positive regulation of epithelial cell differentiation
GO:0030879	mammary gland development
GO:0030903	notochord development
GO:0030916	otic vesicle formation
GO:0031018	endocrine pancreas development
GO:0032331	negative regulation of chondrocyte differentiation
GO:0032332	positive regulation of chondrocyte differentiation
GO:0035019	somatic stem cell maintenance
GO:0035622	intrahepatic bile duct development
GO:0042127	regulation of cell proliferation
GO:0042981	regulation of apoptotic process
GO:0043066	negative regulation of apoptotic process
GO:0043491	protein kinase B signaling
GO:0045165	cell fate commitment
GO:0045595	regulation of cell differentiation
GO:0045662	negative regulation of myoblast differentiation
GO:0045732	positive regulation of protein catabolic process
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0046533	negative regulation of photoreceptor cell differentiation
GO:0048709	oligodendrocyte differentiation
GO:0050679	positive regulation of epithelial cell proliferation
GO:0050680	negative regulation of epithelial cell proliferation
GO:0051216	cartilage development
GO:0060008	Sertoli cell differentiation
GO:0060009	Sertoli cell development
GO:0060018	astrocyte fate commitment
GO:0060041	retina development in camera-type eye
GO:0060174	limb bud formation
GO:0060221	retinal rod cell differentiation
GO:0060350	endochondral bone morphogenesis
GO:0060441	epithelial tube branching involved in lung morphogenesis
GO:0060487	lung epithelial cell differentiation
GO:0060512	prostate gland morphogenesis
GO:0060517	epithelial cell proliferation involved in prostatic bud elongation
GO:0060729	intestinal epithelial structure maintenance
GO:0060784	regulation of cell proliferation involved in tissue homeostasis
GO:0061036	positive regulation of cartilage development
GO:0061046	regulation of branching involved in lung morphogenesis
GO:0061138	morphogenesis of a branching epithelium
GO:0070168	negative regulation of biomineral tissue development
GO:0070371	ERK1 and ERK2 cascade
GO:0071260	cellular response to mechanical stimulus
GO:0071300	cellular response to retinoic acid
GO:0071347	cellular response to interleukin-1
GO:0071364	cellular response to epidermal growth factor stimulus
GO:0071504	cellular response to heparin
GO:0071560	cellular response to transforming growth factor beta stimulus
GO:0071599	otic vesicle development
GO:0072034	renal vesicle induction
GO:0072170	metanephric tubule development
GO:0072189	ureter development
GO:0072190	ureter urothelium development
GO:0072193	ureter smooth muscle cell differentiation
GO:0072197	ureter morphogenesis
GO:0072289	metanephric nephron tubule formation
GO:0090090	negative regulation of canonical Wnt signaling pathway
GO:0090103	cochlea morphogenesis
GO:0090184	positive regulation of kidney development
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis
GO:1901203	positive regulation of extracellular matrix assembly
GO:2000020	positive regulation of male gonad development
GO:2000138	positive regulation of cell proliferation involved in heart morphogenesis
GO:2000741	positive regulation of mesenchymal stem cell differentiation
GO:2000794	regulation of epithelial cell proliferation involved in lung morphogenesis
GO:2001054	negative regulation of mesenchymal cell apoptotic process