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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| SOX9 | 6662 | SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal) | 17 | CMD1; SRA1; CMPD1 |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 22810696 | 2012 | Cell line : - Source : Biospecimen Core Resources Sample Type : - No. of Sample : - Stage : - | Whole-genome sequencing, Affymetrix SNP6.0 arrays. | Mutation | - | Recurrent mutations occurs in SOX9 in case of CRC. SOX9 is transcriptionally repressed by WNT signaling, and the SOX9 protein has been shown to facilitate beta-catenin degradation. Tumor and normal samples were obtained from Biospecimen Core Resources (BCRs). |
| 19019766 | 2008 | Cell line : - Source : Zhejiang Province in China Sample Type : - No. of Sample : 188 primary colorectal cancer specimens Stage : TNM Stage I-III | Immunostaining, real time RT-PCR, and Western blotting | Up-regulation | - | SOX9 up-regulation in colorectal cancer compared with normal mucosa. The detection of SOX9 expression might contribute to predicting clinical outcomes for patients with colorectal cancer. |
| 22246670 | 2012 | Cell line : - Source : National Institute for Medical Research (London, UK) and Spanish National Cancer Research Center (CNIO), Madrid, Spain. And human tissue samplefrom Basque Biobank for Research-OEHUN. Sample Type : - No. of Sample : - Stage : - | real time RT-PCR, Immunoblotting, Chromatin immunoprecipitation assay, immunohistochemistry and tissue microarray | Up-regulation | - | SOX9 was overexpressed in a wide range of human cancers, where its expression correlated with malignant character and progression. Human colorectal cancers showed a positive correlation between expression levels of SOX9 and BMI1 and a negative correlation between SOX9 and ARF in clinical samples. It show direct involvement of SOX9 in neoplastic pathobiology, particularly, in colorectal cancer. Human colorectal carcinoma samples and data from patients were provided by the Basque Biobank for Research-OEHUN. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | SRY (sex determining region Y)-boxes |
| Description | 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] |
| Chromosome | 17 |
| Location | 17q23 |
| Start | 72121020 |
| End | 72126420 |
| Strand | + |
| Gene Sequence | Download Select all |
| Length | 5401 |
| OMIM ID | 608160 |
| HGNC ID | HGNC:11204 |
| Unigene ID | Hs.647409 |
| Ensembl ID | ENSG00000125398 |
| PharmGKB ID | - |
mRNA Information
| mRNA ID | NM_000346.3 |
|---|---|
| Exon | join(1..803,1700..1953,2524..5401) | mRNA Sequence | Download Select all |
| Length | 3963 |
CDS Information
| Location | join(373..803,1700..1953,2524..3368) |
|---|---|
| CDS Sequence | Download Select all |
| CCDS ID | CCDS11689.1 |
Protein Information
| Protein ID | NP_000337.1 |
|---|---|
| Protein Name | SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal) |
| Molecular Wt. (Da) | 56006 |
| Protein Sequence | Download Select all |
| Length | 509 |
| Uniprot ID | Q9UER7 |
| Ensembl Protein ID | ENSP00000266000 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 211 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 1385 | CREB1 | 442 | NP_604391.1 | in vivo | 19113914 |
| 2516 | NR5A1 | 1702 | NP_004950.2 | in vitro;in vivo;yeast 2-hybrid | 9774680 |
| 3303 | HSPA1A | 774 | NP_005336.3 | in vitro;in vivo | 11356186 |
| 3837 | KPNB1 | 4114 | NP_002256.2 | in vitro | 11323423 |
| 4094 | MAF | 1518 | NP_005351.2 | in vitro;in vivo;yeast 2-hybrid | 12381733 |
| 7186 | TRAF2 | 3538 | NP_066961.2 | in vitro | 12136106 |
| 9968 | MED12 | 2176 | NP_005111.2 | in vitro;in vivo | 12136106 |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| cAMP signaling pathway | hsa04024 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd01388 | 104-174 | SOX-TCF_HMG-box |
| cl00082 | 104-174 | HMG-box superfamily |
| pfam12444 | 21-95 | Sox_N |
| cl13830 | 21-95 | Sox_N superfamily |
| pfam00505 | 105-173 | HMG_box |
| smart00398 | 104-173 | HMG |
| cd01389 | 104-180 | MATA_HMG-box |
| cd00084 | 105-170 | HMG-box |
| cd01390 | 106-168 | HMGB-UBF_HMG-box |
| PTZ00199 | 93-172 | PTZ00199 |
| pfam09011 | 100-173 | HMG_box_2 |
| COG5648 | 100-220 | NHP6B |
Ontology Information
| HPRD ID | 2886 |
|---|---|
| Molecular Class | Transcription factor |
| Molecular Function | DNA binding (GO:0003677) |
| Biological Process | Regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219) |
Drug Information
No matching records could be found.