Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions TF
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000125398 Gene ID 6662 Accession 11204
Symbol SOX9 Alias CMD1;SRA1;CMPD1;SRXX2;SRXY10 Full Name SRY-box transcription factor 9
Status Confidence Length 5397 bases Strand Plus strand
Position 17 : 72121020 - 72126416 RNA binding domain N.A.
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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
29901772 SOX9 has distinct regulatory roles in alternative splicing and transcription. Michael Girardot 2018-09-28 Nucleic acids research
35415063 The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions. M Mohammad Al-Qattan 2022-04-01 Plastic and reconstructive surgery. Global open
35927232 Exosomes rewire the cartilage microenvironment in osteoarthritis: from intercellular communication to therapeutic strategies. Yuangang Wu 2022-08-05 International journal of oral science
34073089 Alternate Roles of Sox Transcription Factors beyond Transcription Initiation. Yuli Zhang 2021-05-31 International journal of molecular sciences
22052544 Sox9 is upstream of microRNA-140 in cartilage. Yukio Nakamura 2012-01-01 Applied biochemistry and biotechnology
29622466 Comparative Molecular Analysis of Gastrointestinal Adenocarcinomas. Yang Liu 2018-04-09 Cancer cell
33561007 Integrated analysis of microRNA and mRNA expression profiling identifies BAIAP3 as a novel target of dysregulated hsa-miR-1972 in age-related white matter lesions. Wen-Qing Huang 2021-02-09 Aging
27128146 SOX9 and the many facets of its regulation in the chondrocyte lineage. Véronique Lefebvre 2017-01-01 Connective tissue research
35858326 Sox9 directs divergent epigenomic states in brain tumor subtypes. Debosmita Sardar 2022-07-19 Proceedings of the National Academy of Sciences of the United States of America
35176223 MBNL1 drives dynamic transitions between fibroblasts and myofibroblasts in cardiac wound healing. Darrian Bugg 2022-03-03 Cell stem cell
29237490 Linc-ROR promotes esophageal squamous cell carcinoma progression through the derepression of SOX9. Lianghai Wang 2017-12-13 Journal of experimental & clinical cancer research : CR
19103169 Bone morphogenetic protein-2 induces chromatin remodeling and modification at the proximal promoter of Sox9 gene. Qiuhui Pan 2009-02-06 Biochemical and biophysical research communications

Transcripts

Name Transcript ID bp Protein Translation ID
SOX9-201 ENST00000245479 3931 509aa ENSP00000245479

Gene Model

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
2143Body Mass Index9.38365113762885E-517903300
2424Body Mass Index8.96577488029848E-517903300
11175Hip7.4013781725224E-517903296
11237Hip4.00831229478982E-517903296
15597Heart Failure1.3642709E-004-
25123Body Weight7.1890000E-005-
36596Platelet Function Tests7.6400000E-006-
63105Lung Volume Measurements7E-622424883
65214Angiotensin-Converting Enzyme Inhibitors9E-628030426
89673triptolide9E-626121980
89674Cell Survival9E-626121980
100796Thyrotropin2E-723408906
100831Thyrotropin1E-723408906
102664Thyrotropin8E-1323408906

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000122involved_in negative regulation of transcription by RNA polymerase II2IBA,IDAHomo_sapiens(9606)Process
GO:0000785part_of chromatin1ISAHomo_sapiens(9606)Component
GO:0000978enables RNA polymerase II cis-regulatory region sequence-specific DNA binding2IBA,IDAHomo_sapiens(9606)Function
GO:0000981enables DNA-binding transcription factor activity, RNA polymerase II-specific3IBA,IDA,ISAHomo_sapiens(9606)Function
GO:0000987enables cis-regulatory region sequence-specific DNA binding2IDA,ISSHomo_sapiens(9606)Function
GO:0001228enables DNA-binding transcription activator activity, RNA polymerase II-specific1IDAHomo_sapiens(9606)Function
GO:0001501involved_in skeletal system development1IMPHomo_sapiens(9606)Process
GO:0001502involved_in cartilage condensation1ISSHomo_sapiens(9606)Process
GO:0001658involved_in branching involved in ureteric bud morphogenesis1IEAHomo_sapiens(9606)Process
GO:0001708involved_in cell fate specification1ISSHomo_sapiens(9606)Process
GO:0001837involved_in epithelial to mesenchymal transition1ISSHomo_sapiens(9606)Process
GO:0001894involved_in tissue homeostasis1ISSHomo_sapiens(9606)Process
GO:0001934involved_in positive regulation of protein phosphorylation1ISSHomo_sapiens(9606)Process
GO:0001942involved_in hair follicle development1ISSHomo_sapiens(9606)Process
GO:0002009involved_in morphogenesis of an epithelium1IBAHomo_sapiens(9606)Process
GO:0002053involved_in positive regulation of mesenchymal cell proliferation1ISSHomo_sapiens(9606)Process
GO:0002062involved_in chondrocyte differentiation2IBA,ISSHomo_sapiens(9606)Process
GO:0002067involved_in glandular epithelial cell differentiation1IEAHomo_sapiens(9606)Process
GO:0002683involved_in negative regulation of immune system process1ISSHomo_sapiens(9606)Process
GO:0003170involved_in heart valve development1ISSHomo_sapiens(9606)Process
GO:0003179involved_in heart valve morphogenesis1ISSHomo_sapiens(9606)Process
GO:0003180involved_in aortic valve morphogenesis1IDAHomo_sapiens(9606)Process
GO:0003188involved_in heart valve formation1IEAHomo_sapiens(9606)Process
GO:0003203involved_in endocardial cushion morphogenesis1ISSHomo_sapiens(9606)Process
GO:0003413involved_in chondrocyte differentiation involved in endochondral bone morphogenesis1IMPHomo_sapiens(9606)Process
GO:0003415involved_in chondrocyte hypertrophy1ISSHomo_sapiens(9606)Process
GO:0003430involved_in growth plate cartilage chondrocyte growth1ISSHomo_sapiens(9606)Process
GO:0003682enables chromatin binding1IDAHomo_sapiens(9606)Function
GO:0003700enables DNA-binding transcription factor activity2IDA,IMPHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634is_active_in nucleus3IBA,IDA,ISSHomo_sapiens(9606)Component
GO:0005654located_in nucleoplasm2IDA,TASHomo_sapiens(9606)Component
GO:0005667part_of transcription regulator complex1IEAHomo_sapiens(9606)Component
GO:0006334involved_in nucleosome assembly1IDAHomo_sapiens(9606)Process
GO:0006338involved_in chromatin remodeling1IDAHomo_sapiens(9606)Process
GO:0006366involved_in transcription by RNA polymerase II1IEAHomo_sapiens(9606)Process
GO:0006468involved_in protein phosphorylation1IEAHomo_sapiens(9606)Process
GO:0007010involved_in cytoskeleton organization1IEAHomo_sapiens(9606)Process
GO:0007165involved_in signal transduction1ISSHomo_sapiens(9606)Process
GO:0007173involved_in epidermal growth factor receptor signaling pathway1ISSHomo_sapiens(9606)Process
GO:0007219involved_in Notch signaling pathway1IEAHomo_sapiens(9606)Process
GO:0007283involved_in spermatogenesis1ISSHomo_sapiens(9606)Process
GO:0007507involved_in heart development1IBAHomo_sapiens(9606)Process
GO:0008013enables beta-catenin binding1IEAHomo_sapiens(9606)Function
GO:0008284involved_in positive regulation of cell population proliferation1IMPHomo_sapiens(9606)Process
GO:0008584involved_in male gonad development2IEP,IMPHomo_sapiens(9606)Process
GO:0010463involved_in mesenchymal cell proliferation1IEAHomo_sapiens(9606)Process
GO:0010467involved_in gene expression1IEAHomo_sapiens(9606)Process
GO:0010564involved_in regulation of cell cycle process1IMPHomo_sapiens(9606)Process
GO:0010628involved_in positive regulation of gene expression1IDAHomo_sapiens(9606)Process
GO:0010629involved_in negative regulation of gene expression1IEAHomo_sapiens(9606)Process
GO:0010634involved_in positive regulation of epithelial cell migration1IMPHomo_sapiens(9606)Process
GO:0014032involved_in neural crest cell development1IEAHomo_sapiens(9606)Process
GO:0014036involved_in neural crest cell fate specification1ISSHomo_sapiens(9606)Process
GO:0014068involved_in positive regulation of phosphatidylinositol 3-kinase signaling1ISSHomo_sapiens(9606)Process
GO:0014070involved_in response to organic cyclic compound1IEAHomo_sapiens(9606)Process
GO:0019100involved_in male germ-line sex determination1ISSHomo_sapiens(9606)Process
GO:0019933involved_in cAMP-mediated signaling1IDAHomo_sapiens(9606)Process
GO:0021780involved_in glial cell fate specification1IEAHomo_sapiens(9606)Process
GO:0030155involved_in regulation of cell adhesion1IEAHomo_sapiens(9606)Process
GO:0030279involved_in negative regulation of ossification2IDA,ISSHomo_sapiens(9606)Process
GO:0030282involved_in bone mineralization1IEAHomo_sapiens(9606)Process
GO:0030502involved_in negative regulation of bone mineralization1IEAHomo_sapiens(9606)Process
GO:0030850involved_in prostate gland development1IEPHomo_sapiens(9606)Process
GO:0030857involved_in negative regulation of epithelial cell differentiation1IEAHomo_sapiens(9606)Process
GO:0030858involved_in positive regulation of epithelial cell differentiation1ISSHomo_sapiens(9606)Process
GO:0030879involved_in mammary gland development1IEAHomo_sapiens(9606)Process
GO:0030903involved_in notochord development1IEAHomo_sapiens(9606)Process
GO:0030916involved_in otic vesicle formation1ISSHomo_sapiens(9606)Process
GO:0031018involved_in endocrine pancreas development1IEAHomo_sapiens(9606)Process
GO:0032331involved_in negative regulation of chondrocyte differentiation1ISSHomo_sapiens(9606)Process
GO:0032332involved_in positive regulation of chondrocyte differentiation3IBA,IDA,IMPHomo_sapiens(9606)Process
GO:0032808involved_in lacrimal gland development1IEAHomo_sapiens(9606)Process
GO:0032991part_of protein-containing complex1IDAHomo_sapiens(9606)Component
GO:0034236enables protein kinase A catalytic subunit binding1IPIHomo_sapiens(9606)Function
GO:0034504involved_in protein localization to nucleus1IEAHomo_sapiens(9606)Process
GO:0035019involved_in somatic stem cell population maintenance1ISSHomo_sapiens(9606)Process
GO:0035622involved_in intrahepatic bile duct development1IEAHomo_sapiens(9606)Process
GO:0042127involved_in regulation of cell population proliferation1ISSHomo_sapiens(9606)Process
GO:0042981involved_in regulation of apoptotic process1ISSHomo_sapiens(9606)Process
GO:0043066involved_in negative regulation of apoptotic process2IMP,ISSHomo_sapiens(9606)Process
GO:0043425enables bHLH transcription factor binding1IEAHomo_sapiens(9606)Function
GO:0043491involved_in protein kinase B signaling1IEAHomo_sapiens(9606)Process
GO:0043565enables sequence-specific DNA binding1IDAHomo_sapiens(9606)Function
GO:0045662involved_in negative regulation of myoblast differentiation1ISSHomo_sapiens(9606)Process
GO:0045668involved_in negative regulation of osteoblast differentiation1ISSHomo_sapiens(9606)Process
GO:0045732involved_in positive regulation of protein catabolic process1IEAHomo_sapiens(9606)Process
GO:0045892involved_in negative regulation of DNA-templated transcription1IMPHomo_sapiens(9606)Process
GO:0045893involved_in positive regulation of DNA-templated transcription2IDA,IMPHomo_sapiens(9606)Process
GO:0045944involved_in positive regulation of transcription by RNA polymerase II1IDAHomo_sapiens(9606)Process
GO:0046322involved_in negative regulation of fatty acid oxidation1ISSHomo_sapiens(9606)Process
GO:0046533involved_in negative regulation of photoreceptor cell differentiation1ISSHomo_sapiens(9606)Process
GO:0048665involved_in neuron fate specification1IEAHomo_sapiens(9606)Process
GO:0048709involved_in oligodendrocyte differentiation1IBAHomo_sapiens(9606)Process
GO:0050679involved_in positive regulation of epithelial cell proliferation2IEP,ISSHomo_sapiens(9606)Process
GO:0050680involved_in negative regulation of epithelial cell proliferation1ISSHomo_sapiens(9606)Process
GO:0051216involved_in cartilage development1ISSHomo_sapiens(9606)Process
GO:0060008involved_in Sertoli cell differentiation1ISSHomo_sapiens(9606)Process
GO:0060009involved_in Sertoli cell development1IEAHomo_sapiens(9606)Process
GO:0060018involved_in astrocyte fate commitment1IEAHomo_sapiens(9606)Process
GO:0060041involved_in retina development in camera-type eye1ISSHomo_sapiens(9606)Process
GO:0060070involved_in canonical Wnt signaling pathway1IEAHomo_sapiens(9606)Process
GO:0060174involved_in limb bud formation1IEAHomo_sapiens(9606)Process
GO:0060221involved_in retinal rod cell differentiation1ISSHomo_sapiens(9606)Process
GO:0060441involved_in epithelial tube branching involved in lung morphogenesis1IEAHomo_sapiens(9606)Process
GO:0060509involved_in type I pneumocyte differentiation1IEAHomo_sapiens(9606)Process
GO:0060517involved_in epithelial cell proliferation involved in prostatic bud elongation1ISSHomo_sapiens(9606)Process
GO:0060532involved_in bronchus cartilage development1IEAHomo_sapiens(9606)Process
GO:0060534involved_in trachea cartilage development1IEAHomo_sapiens(9606)Process
GO:0060575involved_in intestinal epithelial cell differentiation1IEAHomo_sapiens(9606)Process
GO:0060729involved_in intestinal epithelial structure maintenance1ISSHomo_sapiens(9606)Process
GO:0060784involved_in regulation of cell proliferation involved in tissue homeostasis1ISSHomo_sapiens(9606)Process
GO:0061036involved_in positive regulation of cartilage development1IDAHomo_sapiens(9606)Process
GO:0061046involved_in regulation of branching involved in lung morphogenesis1IEAHomo_sapiens(9606)Process
GO:0061138involved_in morphogenesis of a branching epithelium1ISSHomo_sapiens(9606)Process
GO:0061145involved_in lung smooth muscle development1IEAHomo_sapiens(9606)Process
GO:0061323involved_in cell proliferation involved in heart morphogenesis1IEAHomo_sapiens(9606)Process
GO:0065003involved_in protein-containing complex assembly1IDAHomo_sapiens(9606)Process
GO:0070168involved_in negative regulation of biomineral tissue development2IDA,ISSHomo_sapiens(9606)Process
GO:0070371involved_in ERK1 and ERK2 cascade1ISSHomo_sapiens(9606)Process
GO:0070384involved_in Harderian gland development1IEAHomo_sapiens(9606)Process
GO:0070542involved_in response to fatty acid1ISSHomo_sapiens(9606)Process
GO:0071260involved_in cellular response to mechanical stimulus1ISSHomo_sapiens(9606)Process
GO:0071300involved_in cellular response to retinoic acid1IEPHomo_sapiens(9606)Process
GO:0071347involved_in cellular response to interleukin-11IEPHomo_sapiens(9606)Process
GO:0071364involved_in cellular response to epidermal growth factor stimulus1ISSHomo_sapiens(9606)Process
GO:0071504involved_in cellular response to heparin1ISSHomo_sapiens(9606)Process
GO:0071560involved_in cellular response to transforming growth factor beta stimulus1IDAHomo_sapiens(9606)Process
GO:0071773involved_in cellular response to BMP stimulus1ISSHomo_sapiens(9606)Process
GO:0072034involved_in renal vesicle induction1ISSHomo_sapiens(9606)Process
GO:0072089involved_in stem cell proliferation1IEAHomo_sapiens(9606)Process
GO:0072190involved_in ureter urothelium development1IEAHomo_sapiens(9606)Process
GO:0072193involved_in ureter smooth muscle cell differentiation1IEAHomo_sapiens(9606)Process
GO:0072197involved_in ureter morphogenesis1IEAHomo_sapiens(9606)Process
GO:0072289involved_in metanephric nephron tubule formation1ISSHomo_sapiens(9606)Process
GO:0085029involved_in extracellular matrix assembly1IEAHomo_sapiens(9606)Process
GO:0090090involved_in negative regulation of canonical Wnt signaling pathway1ISSHomo_sapiens(9606)Process
GO:0090103involved_in cochlea morphogenesis1ISSHomo_sapiens(9606)Process
GO:0090184involved_in positive regulation of kidney development1ISSHomo_sapiens(9606)Process
GO:0090190involved_in positive regulation of branching involved in ureteric bud morphogenesis1ISSHomo_sapiens(9606)Process
GO:0097065involved_in anterior head development1IEAHomo_sapiens(9606)Process
GO:0097152involved_in mesenchymal cell apoptotic process1IEAHomo_sapiens(9606)Process
GO:0097157enables pre-mRNA intronic binding1IEAHomo_sapiens(9606)Function
GO:0098609involved_in cell-cell adhesion1IEAHomo_sapiens(9606)Process
GO:1901203involved_in positive regulation of extracellular matrix assembly1IEAHomo_sapiens(9606)Process
GO:1902732involved_in positive regulation of chondrocyte proliferation1IDAHomo_sapiens(9606)Process
GO:1902894involved_in negative regulation of miRNA transcription1IDAHomo_sapiens(9606)Process
GO:1904864involved_in negative regulation of beta-catenin-TCF complex assembly1IEAHomo_sapiens(9606)Process
GO:1990837enables sequence-specific double-stranded DNA binding1IDAHomo_sapiens(9606)Function
GO:2000020involved_in positive regulation of male gonad development1IDAHomo_sapiens(9606)Process
GO:2000138involved_in positive regulation of cell proliferation involved in heart morphogenesis1IEAHomo_sapiens(9606)Process
GO:2000648involved_in positive regulation of stem cell proliferation1IEAHomo_sapiens(9606)Process
GO:2000741involved_in positive regulation of mesenchymal stem cell differentiation1IDAHomo_sapiens(9606)Process
GO:2000794involved_in regulation of epithelial cell proliferation involved in lung morphogenesis1IEAHomo_sapiens(9606)Process
GO:2001054involved_in negative regulation of mesenchymal cell apoptotic process1IEAHomo_sapiens(9606)Process

Expression