Details for: SOX9

Gene ID: 6662

Symbol: SOX9

Ensembl ID: ENSG00000125398

Description: SRY-box transcription factor 9

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 2.3
    Marker Score: 13645
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 2.06
    Marker Score: 653
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 2
    Marker Score: 4528
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 1.94
    Marker Score: 2693.5
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.93
    Marker Score: 1272
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.87
    Marker Score: 1943
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.85
    Marker Score: 39569
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.78
    Marker Score: 4054
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.76
    Marker Score: 7317.5
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.57
    Marker Score: 3718
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.53
    Marker Score: 2715
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.5
    Marker Score: 1578.5
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.47
    Marker Score: 9395
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168341
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.4
    Marker Score: 523
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.36
    Marker Score: 862
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 1.3
    Marker Score: 461
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.27
    Marker Score: 479
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.26
    Marker Score: 587
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.2
    Marker Score: 698
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.18
    Marker Score: 335
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.17
    Marker Score: 1010
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.16
    Marker Score: 18162
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.16
    Marker Score: 1153
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.15
    Marker Score: 899
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.11
    Marker Score: 1063
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.1
    Marker Score: 766
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.05
    Marker Score: 439
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251760
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.02
    Marker Score: 720
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.02
    Marker Score: 234
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.02
    Marker Score: 881
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.01
    Marker Score: 3176
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71779
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1
    Marker Score: 3847
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48003
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.99
    Marker Score: 623
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.98
    Marker Score: 244
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30405
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 503
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 457
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.96
    Marker Score: 3421.5
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.96
    Marker Score: 5759
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.96
    Marker Score: 665
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.95
    Marker Score: 1809.5
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2409
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5344
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.92
    Marker Score: 12369
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.91
    Marker Score: 961
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.91
    Marker Score: 758
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.9
    Marker Score: 721
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 322
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.89
    Marker Score: 480
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.88
    Marker Score: 206
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.87
    Marker Score: 1414
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.87
    Marker Score: 881
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.84
    Marker Score: 4143.5
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 0.83
    Marker Score: 375
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.82
    Marker Score: 628
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 0.82
    Marker Score: 198
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.81
    Marker Score: 495
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 0.8
    Marker Score: 321
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 318
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 392
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.74
    Marker Score: 471
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.73
    Marker Score: 646
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.72
    Marker Score: 1755
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.72
    Marker Score: 1516
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.71
    Marker Score: 24740
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2995.5
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.71
    Marker Score: 204
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.7
    Marker Score: 1657
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.7
    Marker Score: 170
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.69
    Marker Score: 5423.5
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.69
    Marker Score: 468
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.68
    Marker Score: 537
  • Cell Name: tracheobronchial serous cell (CL0019001)
    Fold Change: 0.67
    Marker Score: 246
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.66
    Marker Score: 342
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.65
    Marker Score: 128
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.64
    Marker Score: 684
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.64
    Marker Score: 582
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.64
    Marker Score: 1013
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.63
    Marker Score: 3020
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.62
    Marker Score: 182
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.62
    Marker Score: 160
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.61
    Marker Score: 323
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.61
    Marker Score: 151
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.61
    Marker Score: 900
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.61
    Marker Score: 407
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.6
    Marker Score: 181
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.59
    Marker Score: 561
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.59
    Marker Score: 222
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.59
    Marker Score: 1199
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.58
    Marker Score: 2259
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.58
    Marker Score: 240
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.57
    Marker Score: 4900
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.57
    Marker Score: 731

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Other Information

**Key Characteristics:** 1. **Transcription Factor:** SOX9 is a transcription factor that regulates the expression of target genes by binding to specific DNA sequences. 2. **Developmental Role:** SOX9 is essential for embryonic development, particularly in the formation of the heart, bones, and reproductive system. 3. **Cell Fate Specification:** SOX9 regulates the specification of cell fate in various tissues, including the development of chondrocytes, osteoblasts, and muscle cells. 4. **Gene Expression:** SOX9 regulates the expression of target genes involved in development, differentiation, and homeostasis. **Pathways and Functions:** 1. **Chondrocyte Differentiation:** SOX9 regulates the differentiation of chondrocytes, which are essential for bone development and growth. 2. **Bone Mineralization:** SOX9 promotes bone mineralization by regulating the expression of genes involved in osteoblast differentiation and bone matrix deposition. 3. **Heart Development:** SOX9 plays a crucial role in heart development, particularly in the formation of the atrioventricular septum and the development of cardiac valve tissues. 4. **Epithelial-Mesenchymal Transition:** SOX9 regulates the transition of epithelial cells to mesenchymal cells, which is essential for tissue development and remodeling. 5. **Immune System Regulation:** SOX9 negatively regulates immune system processes, including apoptosis, inflammation, and immune cell proliferation. **Clinical Significance:** 1. **Congenital Heart Defects:** Mutations in the SOX9 gene have been associated with congenital heart defects, including atrioventricular septal defects and tetralogy of Fallot. 2. **Bone Disorders:** SOX9 mutations have been linked to bone disorders, including achondroplasia and osteogenesis imperfecta. 3. **Reproductive System Abnormalities:** SOX9 mutations have been associated with reproductive system abnormalities, including undescended testes and infertility. 4. **Cancer:** SOX9 has been implicated in the development and progression of various cancers, including prostate cancer and breast cancer. In conclusion, the SOX9 gene is a critical regulator of development, differentiation, and homeostasis. Its dysregulation has been implicated in various congenital and acquired disorders, highlighting the importance of SOX9 in maintaining tissue homeostasis and proper development.

Genular Protein ID: 3595952783

Symbol: SOX9_HUMAN

Name: N/A

UniProtKB Accession Codes:

P48436 Q53Y80

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CPTC 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 8 EPD 1 Ensembl 1 GO 100 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PIR 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 1 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7990924

Title: Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.

PubMed ID: 7990924

DOI: 10.1038/372525a0

PubMed ID: 8001137

Title: Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.

PubMed ID: 8001137

DOI: 10.1016/0092-8674(94)90041-8

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8640233

Title: Sex reversal by loss of the C-terminal transactivation domain of human SOX9.

PubMed ID: 8640233

DOI: 10.1038/ng0696-230

PubMed ID: 12732631

Title: Transcriptional co-activators CREB-binding protein and p300 regulate chondrocyte-specific gene expression via association with Sox9.

PubMed ID: 12732631

DOI: 10.1074/jbc.m303471200

PubMed ID: 21208124

Title: A SOX9 duplication and familial 46,XX developmental testicular disorder.

PubMed ID: 21208124

DOI: 10.1056/nejmc1010311

PubMed ID: 25604083

Title: Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.

PubMed ID: 25604083

DOI: 10.1136/jmedgenet-2014-102864

PubMed ID: 28263186

Title: Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.

PubMed ID: 28263186

DOI: 10.1172/jci90193

PubMed ID: 31382142

Title: SOX9 in cartilage development and disease.

PubMed ID: 31382142

DOI: 10.1016/j.ceb.2019.07.008

PubMed ID: 31194875

Title: The SOXE transcription factors-SOX8, SOX9 and SOX10-share a bi-partite transactivation mechanism.

PubMed ID: 31194875

DOI: 10.1093/nar/gkz523

PubMed ID: 34342803

Title: The 9aaTAD Activation Domains in the Yamanaka Transcription Factors Oct4, Sox2, Myc, and Klf4.

PubMed ID: 34342803

DOI: 10.1007/s12015-021-10225-8

PubMed ID: 9143916

Title: Mutations in SRY and SOX9: testis-determining genes.

PubMed ID: 9143916

DOI: 10.1002/(sici)1098-1004(1997)9:5<388::aid-humu2>3.0.co;2-0

PubMed ID: 7485151

Title: Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

PubMed ID: 7485151

PubMed ID: 9002675

Title: Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.

PubMed ID: 9002675

DOI: 10.1093/hmg/6.1.91

PubMed ID: 9452059

Title: Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.

PubMed ID: 9452059

DOI: 10.1002/humu.1380110138

PubMed ID: 10446171

Title: Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia.

PubMed ID: 10446171

DOI: 10.1074/jbc.274.34.24023

PubMed ID: 10951468

Title: Acampomelic campomelic dysplasia with SOX9 mutation.

PubMed ID: 10951468

DOI: 10.1002/1096-8628(20000828)93:5<421::aid-ajmg14>3.3.co;2-x

PubMed ID: 11754051

Title: Acampomelic campomelic syndrome.

PubMed ID: 11754051

DOI: 10.1002/ajmg.10033

PubMed ID: 11323423

Title: Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.

PubMed ID: 11323423

DOI: 10.1074/jbc.m101278200

PubMed ID: 12783851

Title: Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.

PubMed ID: 12783851

DOI: 10.1093/hmg/ddg158

PubMed ID: 19033726

Title: Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases.

PubMed ID: 19033726

DOI: 10.1159/000176299

PubMed ID: 19921652

Title: Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.

PubMed ID: 19921652

DOI: 10.1002/ajmg.a.33107

PubMed ID: 20513132

Title: Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.

PubMed ID: 20513132

DOI: 10.1002/humu.21238

PubMed ID: 24038782

Title: A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.

PubMed ID: 24038782

DOI: 10.1002/ajmg.a.36134

Sequence Information:

  • Length: 509
  • Mass: 56137
  • Checksum: 9289CFBB8D6631A2
  • Sequence:
    • MNLLDPFMKM TDEQEKGLSG APSPTMSEDS AGSPCPSGSG SDTENTRPQE NTFPKGEPDL 
KKESEEDKFP VCIREAVSQV LKGYDWTLVP MPVRVNGSSK NKPHVKRPMN AFMVWAQAAR 
RKLADQYPHL HNAELSKTLG KLWRLLNESE KRPFVEEAER LRVQHKKDHP DYKYQPRRRK 
SVKNGQAEAE EATEQTHISP NAIFKALQAD SPHSSSGMSE VHSPGEHSGQ SQGPPTPPTT 
PKTDVQPGKA DLKREGRPLP EGGRQPPIDF RDVDIGELSS DVISNIETFD VNEFDQYLPP 
NGHPGVPATH GQVTYTGSYG ISSTAATPAS AGHVWMSKQQ APPPPPQQPP QAPPAPQAPP 
QPQAAPPQQP AAPPQQPQAH TLTTLSSEPG QSQRTHIKTE QLSPSHYSEQ QQHSPQQIAY 
SPFNLPHYSP SYPPITRSQY DYTDHQNSSS YYSHAAGQGT GLYSTFTYMN PAQRPMYTPI 
ADTSGVPSIP QTHSPQHWEQ PVYTQLTRP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.