SOX17 Gene: SRY-Box Transcription Factor 17 - Function, Disease Associations, and Expression
A comprehensive biomedical overview of SOX17, a key developmental transcription factor implicated in cancer and congenital disorders.
Gene Information Card
| Symbol | SOX17 |
|---|---|
| Full Name | SRY-box transcription factor 17 |
| Gene Type | Protein-coding |
| Chromosomal Location | 8q11.23 |
| NCBI Gene ID | 64321 ncbi.nlm.nih.gov/gene/64321 |
| Ensembl ID | ENSG00000164736 |
| UniProt ID | Q9H6I2 |
| OMIM ID | 610928 |
| HGNC ID | 11122 |
| Aliases | VUR3; SRY-box 17 |
Description
SOX17 (SRY-box transcription factor 17) encodes a member of the SOX (SRY-related HMG-box) family of transcription factors. It plays a critical role in embryonic development, particularly in endoderm formation, hematopoiesis, and vascular development. SOX17 is also involved in the regulation of Wnt/beta-catenin signaling and has been implicated as a tumor suppressor in various cancers. Mutations in SOX17 are associated with congenital anomalies of the kidney and urinary tract (CAKUT) and vesicoureteral reflux (VUR).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital anomalies of the kidney and urinary tract (CAKUT) | Loss-of-function mutations impair SOX17-mediated transcriptional regulation during urogenital development, leading to defective ureteric bud branching and nephron formation. | ClinVar: Pathogenic variants reported; OMIM: 610928 (VUR3). |
| Vesicoureteral reflux (VUR) | Heterozygous missense and frameshift mutations disrupt SOX17 DNA-binding or transactivation, affecting ureterovesical junction development. | OMIM: 610928; ClinVar: Pathogenic/likely pathogenic variants. |
| Endometriosis | SOX17 is a susceptibility locus; altered expression may affect endometrial cell differentiation and implantation. | GWAS and functional studies; NCBI Gene and literature. |
| Colorectal cancer | Hypermethylation of the SOX17 promoter leads to transcriptional silencing, resulting in loss of tumor suppressor function and aberrant Wnt signaling activation. | COSMIC: Methylation and expression changes; literature. |
| Hepatocellular carcinoma | Reduced SOX17 expression correlates with poor prognosis; loss of SOX17 promotes epithelial-mesenchymal transition (EMT) and metastasis. | COSMIC: Expression downregulation; literature. |
| Gastric cancer | SOX17 promoter methylation silences gene expression, contributing to tumor progression and invasion. | COSMIC: Methylation data; literature. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Endometrium | 0.0 | Not detected |
| Placenta | 0.0 | Not detected |
| Small intestine | 0.0 | Not detected |
| Colon | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Hep G2 (liver) | 0.0 | Not expressed |
| A549 (lung) | 0.0 | Not expressed |
| MCF7 (breast) | 0.0 | Not expressed |
| K-562 (leukemia) | 0.0 | Not expressed |
| HeLa (cervical) | 0.0 | Not expressed |
| T-47D (breast) | 0.0 | Not expressed |
| U-2 OS (bone) | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.259C>T (p.Arg87Trp) | Missense | Rare (found in CAKUT/VUR patients) | Impairs DNA binding and transcriptional activity. |
| c.346_347del (p.Leu116ValfsTer26) | Frameshift | Rare (found in VUR) | Truncated protein lacking transactivation domain. |
| c.472C>T (p.Arg158Ter) | Nonsense | Rare (found in CAKUT) | Premature stop codon, likely loss-of-function. |
| c.1A>G (p.Met1Val) | Start codon loss | Rare (found in VUR) | Loss of translation initiation. |
| Promoter hypermethylation | Epigenetic | Frequent in colorectal, gastric, and hepatocellular cancers | Silences SOX17 expression, activating Wnt signaling. |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations in SOX17 are loss-of-function, including missense, frameshift, and nonsense variants that impair DNA binding or transactivation. These lead to haploinsufficiency or dominant-negative effects in developmental disorders.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported for SOX17. In cancer, loss of expression is more common than activating mutations.
Dominant Negative (DN)
Some missense mutations in the HMG domain may act in a dominant-negative manner by binding DNA but failing to activate transcription, interfering with wild-type SOX17 function.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • sequence-specific double-stranded DNA binding | • protein heterodimerization activity |
| • chromatin binding | • transcription cis-regulatory region binding |
| • regulation of transcription by RNA polymerase II | • cell differentiation |
| • embryonic development | • endoderm formation |
| • hematopoiesis | • vasculogenesis |
| • negative regulation of canonical Wnt signaling pathway | • regulation of cell population proliferation |
Pathways
• Wnt signaling pathway (negative regulation)
• Endoderm differentiation
• Hematopoietic stem cell maintenance
• Vascular development
• TGF-beta signaling (crosstalk)
Protein Summary
SOX17 is a 414-amino acid transcription factor containing a high-mobility group (HMG) DNA-binding domain. It binds to the consensus sequence (A/T)(A/T)CAA(A/T)G and regulates target gene expression. SOX17 interacts with beta-catenin and TCF/LEF factors to modulate Wnt signaling. It is essential for endoderm specification, fetal hematopoiesis, and vascular remodeling. In adults, SOX17 is often silenced by promoter methylation in cancers, acting as a tumor suppressor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOX17 Knockout HEK293 Cell Line | EDJ-KQ335 | Human | 64321 | Details Get a Quote |
| SOX17 Knockout HeLa Cell Line | EDJ-KQ18504 | Human | 64321 | Details Get a Quote |
| SOX17 Knockout A-549 Cell Line | EDJ-KQ65558 | Human | 64321 | Details Get a Quote |
| SOX17 Knockout HCT 116 Cell Line | EDJ-KQ73988 | Human | 64321 | Details Get a Quote |
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