Version 5.4
Homo sapiens Gene: SOX9
Summary
InnateDB Gene IDBG-66620.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SOX9
Gene Name SRY (sex determining region Y)-box 9
Synonyms CMD1; CMPD1; SRA1
Species Homo sapiens
Ensembl Gene ENSG00000125398
Encoded Proteins
IDBP-66622
SRY (sex determining region Y)-box 9
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:72121020-72126420
Strand Forward strand
Band q24.3
Transcripts
ENST00000245479 ENSP00000245479
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
Cellular Component
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0043234 protein complex
GO:0044798 nuclear transcription factor complex
Orthologs
Species
Mus musculus
Gene ID
Gene Order
ENSMUSG00000000567
View Gene Order
Pathways
NETPATH
NetPath_7
TGF_beta_Receptor pathway
REACTOME
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.647409
RefSeq NM_000346
HUGO
OMIM
CCDS CCDS11689
HPRD 06427
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca