AutismKB 2.0

Annotation Details for SOX9


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Basic Information Top
Gene Symbol:SOX9 ( CMD1,CMPD1,SRA1 )
Gene Full Name: SRY (sex determining region Y)-box 9
Band: 17q24.3
Quick LinksEntrez ID:6662; OMIM: 608160; Uniprot ID:SOX9_HUMAN; ENSEMBL ID: ENSG00000125398; HGNC ID: 11204
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus8640233
GO:0005654IDA-nucleoplasm-
GO:0005654TAS-nucleoplasm-
GO:0043234IDA-protein complex20530484
GO:0044798IEA-nuclear transcription factor complex-
GO ID Evidence Qualifier GO_term References
GO:0001046IDA-core promoter sequence-specific DNA binding20530484
GO:0001077IDA-transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding20484372
GO:0001158ISS-enhancer sequence-specific DNA binding-
GO:0003682IDA-chromatin binding20484372
GO:0003700IDA-transcription factor activity, sequence-specific DNA binding10805756
GO:0003700IMP-transcription factor activity, sequence-specific DNA binding8640233
GO:0003705IDA-transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding20484372
GO:0004672ISS-protein kinase activity-
GO:0005515IPI-protein binding20530484
GO:0008013IEA-beta-catenin binding-
GO:0034236IPI-protein kinase A catalytic subunit binding10805756
GO:0035326IDA-enhancer binding10805756
GO:0043425IEA-bHLH transcription factor binding-
GO:0046982IEA-protein heterodimerization activity-
GO:0097157IEA-pre-mRNA intronic binding-
GO ID Evidence Qualifier GO_term References
GO:0001501IMP-skeletal system development8640233
GO:0001502ISS-cartilage condensation-
GO:0001503IEA-ossification-
GO:0001658IEA-branching involved in ureteric bud morphogenesis-
GO:0001708ISS-cell fate specification-
GO:0001837ISS-epithelial to mesenchymal transition-
GO:0001894ISS-tissue homeostasis-
GO:0001934ISS-positive regulation of protein phosphorylation-
GO:0001942ISS-hair follicle development-
GO:0002053ISS-positive regulation of mesenchymal cell proliferation-
GO:0002683ISS-negative regulation of immune system process-
GO:0003170ISS-heart valve development-
GO:0003179ISS-heart valve morphogenesis-
GO:0003188IEA-heart valve formation-
GO:0003203ISS-endocardial cushion morphogenesis-
GO:0003413IMP-chondrocyte differentiation involved in endochondral bone morphogenesis20676705
GO:0003415ISS-chondrocyte hypertrophy-
GO:0006334IDA-nucleosome assembly20484372
GO:0006338IDA-chromatin remodeling20484372
GO:0006366IEA-transcription from RNA polymerase II promoter-
GO:0006461IDA-protein complex assembly20530484
GO:0007010IEA-cytoskeleton organization-
GO:0007165ISS-signal transduction-
GO:0007173ISS-epidermal growth factor receptor signaling pathway21512138
GO:0007219IEA-Notch signaling pathway-
GO:0007283ISS-spermatogenesis-
GO:0008284IMP-positive regulation of cell proliferation20651055
GO:0008584IEP-male gonad development17848411
GO:0008584IMP-male gonad development8640233
GO:0010564IMP-regulation of cell cycle process12420222
GO:0010634IMP-positive regulation of epithelial cell migration21512138
GO:0014032IEA-neural crest cell development-
GO:0014068ISS-positive regulation of phosphatidylinositol 3-kinase signaling-
GO:0016337IEA-single organismal cell-cell adhesion-
GO:0019100ISS-male germ-line sex determination-
GO:0019933IDA-cAMP-mediated signaling10805756
GO:0030155IEA-regulation of cell adhesion-
GO:0030198IEA-extracellular matrix organization-
GO:0030279ISS-negative regulation of ossification-
GO:0030502IEA-negative regulation of bone mineralization-
GO:0030850IEP-prostate gland development20103652
GO:0030857IEA-negative regulation of epithelial cell differentiation-
GO:0030858ISS-positive regulation of epithelial cell differentiation-
GO:0030879IEA-mammary gland development-
GO:0030903IEA-notochord development-
GO:0030916ISS-otic vesicle formation-
GO:0031018IEA-endocrine pancreas development-
GO:0032331ISS-negative regulation of chondrocyte differentiation-
GO:0032332IDA-positive regulation of chondrocyte differentiation21401405
GO:0032332IMP-positive regulation of chondrocyte differentiation20676705
GO:0032808IEA-lacrimal gland development-
GO:0034504IEA-protein localization to nucleus-
GO:0035019ISS-somatic stem cell population maintenance-
GO:0035622IEA-intrahepatic bile duct development-
GO:0042127ISS-regulation of cell proliferation-
GO:0042981ISS-regulation of apoptotic process-
GO:0043066IMP-negative regulation of apoptotic process21367821
GO:0043066ISS-negative regulation of apoptotic process-
GO:0043491IEA-protein kinase B signaling-
GO:0045662ISS-negative regulation of myoblast differentiation-
GO:0045732IEA-positive regulation of protein catabolic process-
GO:0045892IMP-negative regulation of transcription, DNA-templated20651055
GO:0045893IDA-positive regulation of transcription, DNA-templated10805756
GO:0045893IMP-positive regulation of transcription, DNA-templated20651055
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter8640233
GO:0046533ISS-negative regulation of photoreceptor cell differentiation-
GO:0048709IEA-oligodendrocyte differentiation-
GO:0050679IEP-positive regulation of epithelial cell proliferation20103652
GO:0050679ISS-positive regulation of epithelial cell proliferation-
GO:0050680ISS-negative regulation of epithelial cell proliferation-
GO:0051216ISS-cartilage development-
GO:0060008ISS-Sertoli cell differentiation-
GO:0060009IEA-Sertoli cell development-
GO:0060018IEA-astrocyte fate commitment-
GO:0060041ISS-retina development in camera-type eye-
GO:0060174IEA-limb bud formation-
GO:0060221ISS-retinal rod cell differentiation-
GO:0060441IEA-epithelial tube branching involved in lung morphogenesis-
GO:0060487IEA-lung epithelial cell differentiation-
GO:0060517ISS-epithelial cell proliferation involved in prostatic bud elongation-
GO:0060532IEA-bronchus cartilage development-
GO:0060534IEA-trachea cartilage development-
GO:0060729ISS-intestinal epithelial structure maintenance-
GO:0060784ISS-regulation of cell proliferation involved in tissue homeostasis-
GO:0061036IDA-positive regulation of cartilage development21401405
GO:0061046IEA-regulation of branching involved in lung morphogenesis-
GO:0061138ISS-morphogenesis of a branching epithelium-
GO:0061145IEA-lung smooth muscle development-
GO:0070168ISS-negative regulation of biomineral tissue development-
GO:0070371ISS-ERK1 and ERK2 cascade21512138
GO:0070384IEA-Harderian gland development-
GO:0071260ISS-cellular response to mechanical stimulus21512138
GO:0071300IEP-cellular response to retinoic acid12420222
GO:0071347IEP-cellular response to interleukin-120079164
GO:0071364ISS-cellular response to epidermal growth factor stimulus21512138
GO:0071504ISS-cellular response to heparin21512138
GO:0071560IDA-cellular response to transforming growth factor beta stimulus21401405
GO:0072034ISS-renal vesicle induction-
GO:0072190IEA-ureter urothelium development-
GO:0072193IEA-ureter smooth muscle cell differentiation-
GO:0072197IEA-ureter morphogenesis-
GO:0072289ISS-metanephric nephron tubule formation-
GO:0090090ISS-negative regulation of canonical Wnt signaling pathway-
GO:0090103ISS-cochlea morphogenesis-
GO:0090184ISS-positive regulation of kidney development-
GO:0090190ISS-positive regulation of branching involved in ureteric bud morphogenesis-
GO:1901203IEA-positive regulation of extracellular matrix assembly-
GO:1902894IDA-negative regulation of pri-miRNA transcription from RNA polymerase II promoter26687115
GO:2000020IDA-positive regulation of male gonad development21412441
GO:2000138IEA-positive regulation of cell proliferation involved in heart morphogenesis-
GO:2000741IDA-positive regulation of mesenchymal stem cell differentiation21401405
GO:2000794IEA-regulation of epithelial cell proliferation involved in lung morphogenesis-
GO:2001054IEA-negative regulation of mesenchymal cell apoptotic process-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SOX9EP30011254512732631 15623506 19828133 Affinity Capture-Western
SOX9EP30010834712732631 15623506 19828133 Affinity Capture-Western
SOX9NR5A11125459774680 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
SOX9NR5A11087929774680 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
SOX9HSPA1A11254511356186 Affinity Capture-Western
SOX9HSPA1A10953511356186 Affinity Capture-Western
SOX9SMAD211254515623506 Affinity Capture-Western
SOX9SMAD211026215623506 Affinity Capture-Western
SOX9SMAD311254515623506 Affinity Capture-Western
SOX9SMAD311026315623506 Affinity Capture-Western
SOX9MAF11254512381733 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
SOX9MAF11026912381733 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
MED12SOX911254512136106 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
MED12SOX911529312136106 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
CREB3L4SOX911254512732631 Reconstituted Complex
CREB3L4SOX912714212732631 Reconstituted Complex
SCXASOX911254519828133 Affinity Capture-Western
SCXASOX913061319828133 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:98371
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-001103-1'