Details for: SOX9

Gene ID: 6662

Symbol: SOX9

Ensembl ID: ENSG00000125398

Description: SRY-box transcription factor 9

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 56.9281
    Cell Significance Index: -38.2000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 4.7105
    Cell Significance Index: 325.7600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2.7551
    Cell Significance Index: 124.8800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 2.3755
    Cell Significance Index: 33.3200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 2.2357
    Cell Significance Index: 134.2200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 2.1888
    Cell Significance Index: 47.4200
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 2.1643
    Cell Significance Index: 23.0000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.9048
    Cell Significance Index: 54.8800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.6296
    Cell Significance Index: 208.9000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.5670
    Cell Significance Index: 73.0600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.3897
    Cell Significance Index: 614.4000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.3644
    Cell Significance Index: 176.2700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.2357
    Cell Significance Index: 58.0800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.1900
    Cell Significance Index: 32.3900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.7361
    Cell Significance Index: 52.0600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.7295
    Cell Significance Index: 40.9400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7042
    Cell Significance Index: 114.5300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6245
    Cell Significance Index: 67.9300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.6225
    Cell Significance Index: 15.5600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.5845
    Cell Significance Index: 43.5600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4286
    Cell Significance Index: 234.0500
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.4144
    Cell Significance Index: 6.2100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.3661
    Cell Significance Index: 12.8700
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.3599
    Cell Significance Index: 2.2200
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 0.3139
    Cell Significance Index: 4.3900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3108
    Cell Significance Index: 61.6800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3062
    Cell Significance Index: 30.2900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.3038
    Cell Significance Index: 6.4700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3031
    Cell Significance Index: 37.2700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2680
    Cell Significance Index: 51.0000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2373
    Cell Significance Index: 42.7900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1602
    Cell Significance Index: 8.3200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1461
    Cell Significance Index: 24.9500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1416
    Cell Significance Index: 50.7900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0182
    Cell Significance Index: -34.3500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0212
    Cell Significance Index: -15.7200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0227
    Cell Significance Index: -4.5600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0327
    Cell Significance Index: -20.3900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0391
    Cell Significance Index: -72.1000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0429
    Cell Significance Index: -31.4700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0468
    Cell Significance Index: -71.9800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0494
    Cell Significance Index: -37.4000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0520
    Cell Significance Index: -0.7100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0527
    Cell Significance Index: -33.5000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0531
    Cell Significance Index: -72.2100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0556
    Cell Significance Index: -31.3800
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.0908
    Cell Significance Index: -0.5700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0959
    Cell Significance Index: -3.0700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0990
    Cell Significance Index: -44.9500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1237
    Cell Significance Index: -35.5800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1269
    Cell Significance Index: -14.5400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1276
    Cell Significance Index: -14.5600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1396
    Cell Significance Index: -29.4000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1724
    Cell Significance Index: -20.0900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1976
    Cell Significance Index: -20.1800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2263
    Cell Significance Index: -13.9100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2613
    Cell Significance Index: -13.7200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2628
    Cell Significance Index: -7.7400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2653
    Cell Significance Index: -38.5700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2691
    Cell Significance Index: -7.5200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.3037
    Cell Significance Index: -41.7000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3103
    Cell Significance Index: -36.5900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3762
    Cell Significance Index: -9.6700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3831
    Cell Significance Index: -29.4000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3852
    Cell Significance Index: -40.1100
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.4153
    Cell Significance Index: -4.1900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4463
    Cell Significance Index: -35.3500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.4764
    Cell Significance Index: -32.0300
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.5153
    Cell Significance Index: -8.9100
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: -0.5655
    Cell Significance Index: -2.1300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.5819
    Cell Significance Index: -12.0700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.6021
    Cell Significance Index: -9.9200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6153
    Cell Significance Index: -37.7300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.6604
    Cell Significance Index: -41.6300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.6699
    Cell Significance Index: -27.4500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.6863
    Cell Significance Index: -7.1100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.7638
    Cell Significance Index: -28.0400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.7737
    Cell Significance Index: -11.6600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.7884
    Cell Significance Index: -22.6000
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -0.8540
    Cell Significance Index: -6.5700
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.8653
    Cell Significance Index: -5.1400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.8733
    Cell Significance Index: -38.6300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.8990
    Cell Significance Index: -31.2400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -1.0021
    Cell Significance Index: -26.3500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -1.0584
    Cell Significance Index: -40.0800
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -1.0717
    Cell Significance Index: -15.5600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.1061
    Cell Significance Index: -38.7500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -1.1136
    Cell Significance Index: -31.7800
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -1.1479
    Cell Significance Index: -28.6700
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -1.1664
    Cell Significance Index: -13.3500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -1.1888
    Cell Significance Index: -60.0800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.1943
    Cell Significance Index: -39.1000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -1.1953
    Cell Significance Index: -18.4900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.2500
    Cell Significance Index: -39.8100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -1.2794
    Cell Significance Index: -26.7800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.3058
    Cell Significance Index: -34.9300
  • Cell Name: stem cell (CL0000034)
    Fold Change: -1.3305
    Cell Significance Index: -9.6700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -1.3614
    Cell Significance Index: -34.7800
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -1.3747
    Cell Significance Index: -34.2800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -1.4167
    Cell Significance Index: -32.7300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

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:

Database IDs:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.