1: SOX9 SRY (sex determining region Y)-box 9 [ Homo sapiens ]

GeneID: 6662 updated 3-Mar-2010

[Top][Help]Summary

Official Symbol
SOX9provided by HGNC
Official Full Name
SRY (sex determining region Y)-box 9provided by HGNC
Primary source
HGNC:11204
See related
Ensembl:ENSG00000125398; HPRD:06427; MIM:608160
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMD1; SRA1; CMPD1; SOX9
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]

[Top][Help]Genomic regions, transcripts, and products

(plus) Go to reference sequence detailsTry our new Sequence Viewer


[Top][Help]Genomic context

chromosome: 17;Â?Location: 17q24.3-q25.1See SOX9 in MapViewer

[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What's a GeneRIF?

PubMed 1. Scx and E47 might modulate the primary chondrogenesis by associating with the Sox9-related transcriptional complex, and by binding to the conserved E-box on Col2a1 promoter.
PubMed 2. performed immunohistochemical analysis for Sox9 to examine the possible chondrogenic nature of chondroblastoma and chondromyxoid fibroma. Sox9 was positive in 8 chondroblastomas and 10 chondromyxoid fibromas.
PubMed 3. Mutation analysis of SOX9 in eight patients with campomelic dysplasia or acampomelic campomelic dysplasia and single copy number variant (CNV) analysis of the upstream region in SOX9 mutation negative patients, were performed.
PubMed 4. Novel lesions surrounding SOX9 support the existence of tissue specific enhancers acting over a large distance to regulate expression of the gene during craniofacial development. [review]
PubMed 5. the osmotic environment regulated both SOX9 and COL2A1 mRNA posttranscriptionally, but in fresh cells resulted in increased SOX9, but decreased COL2A1.
PubMed 6. Results show that the expression of PKCalpha in proliferating intestinal epithelial cells is repressed both in vitro and in vivo by the SOX9 transcription factor.
PubMed 7. Our data suggest that lesions affecting SOX9 expression are the key factor in sex determination in SRY-negative XX males
PubMed 8. Smad3 stimulated the Sox9-mediated transcription in a TGF-beta-dependent manner.
PubMed 9. Increased expression of SOX9 is associated with hypertrichosis.
PubMed 10. Sox9 gene may play a role in the process of natural degeneration of endplate chondrocytes.
PubMed 11. SOX9 and SOX10 but not BRN2 seem to be required for nestin expression in human melanoma.
PubMed 12. Some cases of Pierre Robin sequence may thus result from developmental misexpression of SOX9 due to disruption of very-long-range cis-regulatory elements.
PubMed 13. expression of Sox1, Sox2 and Sox9 was detected at the mRNA level in both foetal and adult cerebellum samples; Sox1, Sox2 and Sox9 expression was detected in the Purkinje cell layer of the adult cerebellum
PubMed 14. SOX-9 is not useful in the chordoma-chondrosarcoma differential diagnosis
PubMed 15. Prostaglandin D synthase-mediated SOX-9 upregulation could provide a reasonable explanation for the presence of testicular differentiation in ovarian ovarian sex cord-stromal tumours.
PubMed 16. Sox9 proteins are exclusively expressed in the cytoplasmic compartment in solid pseudopapillary tumours
PubMed 17. CEACAM1 is a direct target of SOX9 in the colon epithelium
PubMed 18. study confirmed SOX9 upregulation in colorectal cancer compared with normal mucosa; immunostaining showed more SOX9+ cells in lower zone of colonic crypts than upper zone; cancers with strong SOX9 immunostaining were associated with lower 5-year survival
PubMed 19. SOX9 expression was predictive for favorable outcome in ependymoma
PubMed 20. p54nrb plays an important role in the regulation of Sox9 function and the formation of paraspeckle bodies during chondrogenesis
PubMed 21. Sox-9, ER81 and VE-cadherin have roles in retinoic acid-mediated trans-differentiation of breast cancer cells
PubMed 22. Data show SOX9 transduction in chondrocytes increased their chondroitin sulfate synthetic capacity, but this was not accompanied by changes in the transcription of the CS biosynthetic enzymes.
PubMed 23. Critical levels of WT1 + KTS, SRY and SOX9 are required for normal Sertoli cell maturation, and subsequent normal spermatogenesis.
PubMed 24. Quantitative changes of enteric glia represented by SOX9 provide a basis for pathological assessment of glial proliferation and/or degeneration in the diseased gut.
PubMed 25. Role of the SOX transcription factor family in adult human cartilage is most probably restricted to a few members, with SOX9 being the most prominent.
PubMed 26. negative regulation of claudin 7 seems to be defective in CRC, possibly due to decreased Sox-9 activity
PubMed 27. SOX9 has a role in mediating extracellular matrix deposition characteristic of organ fibrosis
PubMed 28. These findings implicate a mutation at a sex-determining locus other than SRY and SOX9 as the cause for the XX sex reversal trait in this family.
PubMed 29. The expression of genes in a human chondrosarcoma cell line is altered following SOX9 overexpression.
PubMed 30. Results support important functions of SOX9 in both the development and maintenance of normal prostate, and indicate that these functions contribute to PCa tumor growth and invasion.
PubMed 31. new hypoxia-inducible and SOX9-regulated genes, Gdf10 and Chm-I. In addition, Mig6 and InhbA were induced by hypoxia, predominantly via HIF-2alpha
PubMed 32. SOX9 expression is a general feature of basal cell carcinomas and adnexal skin neoplasms, suggesting a contribution of SOX9 to the pathogenesis of these tumors.
PubMed 33. The association of SOX9 hypermethylation with tumour progression and clinical outcome suggests its relevant clinical implications at stratifying patients affected with bladder cancer.
PubMed 34. Observational study of gene-disease association. (HuGE Navigator)
PubMed 35. SOX9 signaling is not essential for LE135-induced chondrogenesis in mesenchymal stem cells derived from osteoarthritis patients.
PubMed 36. The embryonic male prostaglandin D synthase (Pgds)/SOX9 pathway is expressed at both the RNA and protein levels in different types of human ovarian tumors.
PubMed 37. role of SOX9 in pigmentation emphasizes the impact of SOX proteins in adult tissues.
PubMed 38. Sox9 transcriptionally regulates furin expression during chondrogenesis.
PubMed 39. A chromosomally normal boy with ACD and his clinical follow-up up to the age of 2 years, in whom a heterozygous SOX9 missense mutation (H165Y) was identified.
PubMed 40. Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia
PubMed 41. SOX9 is a key regulator of CRTL1
PubMed 42. SOX9 may play an important role in the transcriptional activation of the newest collagen gene, COL27A1.
PubMed 43. These findings suggest that non-syndromic PRS may be caused by both SOX9 and KCNJ2 dysregulation.
PubMed 44. no positive correlation between SOX9 and COL2A1 expression was observed in articular chondrocytes--to the contrary, the expression of COL2A1 was significantly increased in the diseased cells
PubMed 45. The SOX9, as a potential melanogenic transcriptional regulator, as its expression level is increased following the down-regulation of BRN2 in differentiated melanoblasts.
PubMed 46. SOX9 exerts a bifunctional effect on COL2A1 gene expression in chondrocytes depending on the differentiation state.
PubMed 47. the ubiquitin-proteasome proteolytic system degrades Sox9 and regulates its transcriptional activity
PubMed 48. Smad3 induces chondrogenesis through the activation of SOX9 via CREB-binding protein/p300 recruitment
PubMed 49. Transcription factor SOX9 down-regulates CEA gene expression and, as a probable consequence, induces apoptosis in the human colon carcinoma cell line HT29Cl.16E.
PubMed 50. Sox9 is variably expressed in ovarian Sertoli cell tumor and other tumors that are in the differential diagnosis
PubMed 51. novel potential role for SOX9 in pancreas development during human embryogenesis and early foetal life
PubMed 52. mesenchymal chondrosarcoma showed positive nuclear staining in both primitive mesenchymal and cartilaginous components for Sox9 protein
PubMed 53. It is revealed with an in vitro sumoylated Ad4BP/SF-1 that DNA binding activity and interaction with Sox9 ware unaffected.
PubMed 54. Sox9 and p300 interact with chromatin and activates transcription via regulation of chromatin modification
PubMed 55. Results indicate that SOX9 in prostate basal cells supports the development and maintenance of the luminal epithelium and that a subset of prostate cancer cells may escape basal cell requirements through SOX9 expression.
PubMed 56. data support a direct molecular link between the Hh signaling pathway and SOX9 regulation, wherein SHH stimulates SOX9 through its mediator GLI1, and are consistent with a mechanism of SOX9 regulation through distal chromatin interactions
PubMed 57. by controlling the cellular concentrations of SOX9, PIAS proteins and sumoylation may be part of a major regulatory system of SOX9 functions
PubMed 58. Sequence analysis of the intergenic regions revealed five regulatory elements, E1-E5, 5' to SOX9 and three such elements, E6-E8, 3' to SOX9.
PubMed 59. Sox9 promoter is regulated by CCAAT-binding factor through its interaction with two functional CCAAT boxes.
PubMed 60. RAR agonists stimulate SOX9 gene expression in breast cancer cell lines: evidence for a role in retinoid-mediated growth inhibition.
PubMed 61. demonstration that a novel human gene, KIAA0800, is preferentially expressed in the testis and is transactivated by Sox9
PubMed 62. SOX9 is an intestine crypt transcription factor, is regulated by the Wnt pathway, and represses the CDX2 and MUC2 genes
PubMed 63. Results suggest that SOX9 is necessary and sufficient to specify pyloric sphincter epithelial properties.
PubMed 64. discussion of molecular action (REVIEW)
PubMed 65. CBP and p300 function as co-activators of Sox9 for cartilage tissue-specific gene expression and chondrocyte differentiation.
PubMed 66. SOX9 contributes to growth regulation by mac25 via inhibition of cell growth and promotion of differentiation in prostate tumor
PubMed 67. Human SOX9 in undifferentiated mouse ES cells might have dual potentials to induce both chondrogenic commitment and growth capacity in the undifferentiated status.
PubMed 68. pediatric and adult high grade tumors display strong nuclear staining for SOX9
PubMed 69. SOX9 mRNA regulation in human articular chondrocytes involves p38 MAPK activation and mRNA stabilization
PubMed 70. Here we report that the human SOX9 proximal promoter is also regulated by the cyclic-AMP response element binding protein (CREB) and Sp1.

[Top][Help]Interactions

Description ..........
Â?Â?Product Interactant Other Gene Complex Source PubsÂ?Â?Â?Â?Â?Â?Â?Â?Â?Â?
KPNB1 (importin beta) interacts with SOX9.
Â?Â?NP_000337.1Â?Â? NP_002256.2Â?Â? KPNB1 Â?Â? Â? BIND Â?Â? PubMed
Â?
Â?Â?P48436Â?Â? P16220Â?Â? CREB1 Â?Â? Â? HPRD Â?Â? PubMed
Â?
Â?Â?P48436Â?Â? Q92793Â?Â? CREBBP Â?Â? Â? HPRD Â?Â? PubMed
Â?
Â?Â?P48436Â?Â? Q09472Â?Â? EP300 Â?Â? Â? HPRD Â?Â? PubMed
Â?
Â?Â?P48436Â?Â? Heat shock 70 KD protein 1AÂ?Â? HSPA1A Â?Â? Â? HPRD Â?Â? PubMed
Â?
Â?Â?P48436Â?Â? Q14974Â?Â? KPNB1 Â?Â? Â? HPRD Â?Â? PubMed
Â?
Â?Â?P48436Â?Â? O75444Â?Â? MAF Â?Â? Â? HPRD Â?Â? PubMed
Â?
Â?Â?P48436Â?Â? Q93074Â?Â? MED12 Â?Â? Â? HPRD Â?Â? PubMed
Â?
Â?Â?P48436Â?Â? Q13285Â?Â? NR5A1 Â?Â? Â? HPRD Â?Â? PubMed
Â?
Â?Â?P48436Â?Â? Q96T58Â?Â? SPEN Â?Â? Â? HPRD Â?Â? PubMed
Â?
Â?Â?P48436Â?Â? Q12933Â?Â? TRAF2 Â?Â? Â? HPRD Â?Â? PubMed
Affinity Capture-Western
Â?Â?BioGRID:112545Â?Â? BioGRID:109535Â?Â? HSPA1A Â?Â? Â? BioGRID Â?Â? PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
Â?Â?BioGRID:112545Â?Â? BioGRID:110269Â?Â? MAF Â?Â? Â? BioGRID Â?Â? PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
Â?Â?BioGRID:112545Â?Â? BioGRID:115293Â?Â? MED12 Â?Â? Â? BioGRID Â?Â? PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
Â?Â?BioGRID:112545Â?Â? BioGRID:108792Â?Â? NR5A1 Â?Â? Â? BioGRID Â?Â? PubMed

[Top][Help]General gene information

Markers

SHGC-35378(e-PCR)
Links: UniSTS:46085
PMC34415P1(e-PCR)
Links: UniSTS:273201
Sox9(e-PCR), detects polymorphism
Links: UniSTS:516415
PMC351321P1(e-PCR)
Links: UniSTS:273242
PMC123659P4(e-PCR)
Links: UniSTS:270452
SOX9(e-PCR)
Links: UniSTS:254072
Sox9(e-PCR), detects polymorphism
Links: UniSTS:502689
RH91806(e-PCR)
Links: UniSTS:91811
RH79827(e-PCR)
Links: UniSTS:86458

Phenotypes

Acampomelic campomelic dysplasia
MIM: 114290
Campomelic dysplasia
MIM: 114290
Campomelic dysplasia with autosomal sex reversal
MIM: 114290

Genotypes

See SOX9 SNP Geneview Report
See SOX9 SNP Genotype Report
See SOX9 SNP Variation Viewer Report Variation View Link

Homology

Homologs of the SOX9 gene The SOX9 gene is conserved in chimpanzee, dog, mouse, chicken, and zebrafish.


Map Viewer (Mouse)

[Top][Help]General protein information

Preferred Names
transcription factor SOX9
Names
transcription factor SOX9
transcription factor SOX-9
SRY-related HMG-box, gene 9
SRY (sex-determining region Y)-box 9 protein
NP_000337.1
3` partial

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

Genomic

  1. NG_012490.1Â?RefSeqGene

    Range
    5000..10400
    Download
    GenBank FASTA Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000346.3 → NP_000337.1 �transcription factor SOX9

    Source sequence(s)
    AC007461,BC007951,BC018276,Z46629
    Consensus CDS
    CCDS11689.1
    UniProtKB/Swiss-Prot
    P48436
    Related Ensembl
    ENSP00000245479, ENST00000245479
    Conserved Domains (2) summary
    cd01388
    Location:104 – 174
    Blast Score: 246
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and...
    pfam12444
    Location:21 – 95
    Blast Score: 219
    Sox_N; Sox developmental protein N terminal

RefSeqs of Annotated Genomes: Build 37.1

The following sections contain reference sequences that belong to a specific genome build. Explain

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

  1. NC_000017.10

    Range
    70117160..70122560
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NT_010783.15Â?

    Range
    35391312..35396712
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000060.1

    Range
    66688498..66693897
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NW_926918.1Â?

    Range
    7193899..7199298
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000149.1

    Range
    65510108..65515656, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NW_001838454.2Â?

    Range
    5391565..5397113, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

Â?Â?Nucleotide Â?Â?Protein
Â?Â?genomic Â?Â?AC007461.8Â?Â?(58856..64256) Â?Â?None
Â?Â?genomic Â?Â?CH471099.1 Â?Â?EAW89102.1
Â?Â?genomic Â?Â?CS025618.1 Â?Â?CAI61686.1
Â?Â?genomic Â?Â?S74504.1 Â?Â?AAB32870.1
Â?Â?genomic Â?Â?S74505.1 Â?Â?AAB32870.1
Â?Â?genomic Â?Â?S74506.1 Â?Â?AAB32870.1
Â?Â?mRNA Â?Â?AK295455.1 Â?Â?BAG58389.1
Â?Â?mRNA Â?Â?BC007951.2 Â?Â?AAH07951.1
Â?Â?mRNA Â?Â?BC018276.1 Â?Â?None
Â?Â?mRNA Â?Â?BC056420.1 Â?Â?AAH56420.1
Â?Â?mRNA Â?Â?BT006875.1 Â?Â?AAP35521.1
Â?Â?mRNA Â?Â?Z46629.1 Â?Â?CAA86598.1
Protein Accession Â?Â?Links
P48436.1 Â?Â?GenPept Â?Â?UniProtKB/Swiss-Prot:P48436

[Top][Help]Additional Links

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.