SOX21: SRY-Box Transcription Factor 21
A key regulator of neurogenesis, stem cell maintenance, and cancer progression
Gene Information Card
| Symbol | SOX21 |
|---|---|
| Full Name | SRY-Box Transcription Factor 21 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q32.1 |
| NCBI Gene ID | 11166 ncbi.nlm.nih.gov/gene/11166 |
| Ensembl ID | ENSG00000125285 |
| UniProt ID | Q9Y651 |
| OMIM ID | 604974 |
| HGNC ID | 11197 |
| Aliases | SOX25, SRY-box 21 |
Description
SOX21 is a member of the SOX (SRY-related HMG-box) family of transcription factors, characterized by a high-mobility group (HMG) DNA-binding domain. It plays critical roles in embryonic development, particularly in neurogenesis, where it maintains neural progenitor cells and regulates differentiation. SOX21 also functions in stem cell pluripotency and has been implicated in various cancers, often acting as a tumor suppressor or oncogene depending on the cellular context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | SOX21 promoter hypermethylation leads to reduced expression, promoting tumor growth and metastasis. | ClinVar, COSMIC |
| Breast Cancer | SOX21 overexpression correlates with poor prognosis and may drive epithelial-mesenchymal transition. | NCBI Gene, COSMIC |
| Glioma | SOX21 is upregulated in glioblastoma and associated with stem-like properties and therapy resistance. | OMIM, COSMIC |
| Hepatocellular Carcinoma | SOX21 silencing via methylation contributes to tumor progression and invasion. | ClinVar, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Colon | 4.2 | Low |
| Breast | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used in neurogenesis studies |
| MCF7 (breast cancer) | 7.8 | Moderate expression; associated with EMT |
| HCT116 (colorectal cancer) | 5.4 | Low expression due to promoter methylation |
| U87MG (glioblastoma) | 18.1 | High expression; linked to stemness |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Likely loss of function; start codon loss |
| c.200C>T (p.Pro67Leu) | Missense | <0.1% | Unknown significance; reported in COSMIC |
| c.400_401insA | Frameshift | <0.1% | Predicted loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Promoter methylation and frameshift mutations reduce SOX21 expression or protein function, contributing to tumor progression.
Gain of Function (GOF)
Not well documented; overexpression in glioblastoma may reflect gain-of-function in stem cell maintenance.
Dominant Negative (DN)
No dominant-negative mutations reported for SOX21.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SOX-mediated regulation of neurogenesis (Reactome: R-HSA-9619483)
• Transcriptional regulation of pluripotent stem cells (Reactome: R-HSA-913531)
Protein Summary
SOX21 is a 233-amino acid transcription factor containing a single HMG-box domain that binds DNA in a sequence-specific manner. It is predominantly nuclear and regulates target genes involved in neural development, stem cell identity, and cell cycle control. Post-translational modifications such as phosphorylation may modulate its activity. The protein is evolutionarily conserved and shares high homology with other SOX family members.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOX21 Knockout HEK293 Cell Line | EDJ-KQ7312 | Human | 11166 | Details Get a Quote |
| SOX21 Knockout A-549 Cell Line | EDJ-KQ32373 | Human | 11166 | Details Get a Quote |
| SOX21 Knockout HeLa Cell Line | EDJ-KQ55590 | Human | 11166 | Details Get a Quote |
| SOX21 Knockout HCT 116 Cell Line | EDJ-KQ72536 | Human | 11166 | Details Get a Quote |
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