SOX30: SRY-Box Transcription Factor 30
A testis-specific transcription factor involved in spermatogenesis and potential tumor suppression
Gene Information Card
| Symbol | SOX30 |
|---|---|
| Full Name | SRY-box transcription factor 30 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q33.3 |
| NCBI Gene ID | 11063 ncbi.nlm.nih.gov/gene/11063 |
| Ensembl ID | ENSG00000164111 |
| UniProt ID | O94993 |
| OMIM ID | 611254 |
| HGNC ID | 11196 |
| Aliases | SOX30, SRY (sex determining region Y)-box 30 |
Description
SOX30 is a member of the SOX (SRY-related HMG-box) family of transcription factors. It is predominantly expressed in testis and plays a critical role in spermatogenesis, particularly in the regulation of meiotic progression and post-meiotic differentiation. SOX30 binds DNA via its HMG domain and regulates target genes involved in germ cell development. Emerging evidence also implicates SOX30 in tumor suppression, with frequent promoter hypermethylation and downregulation observed in various cancers, including lung adenocarcinoma and germ cell tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Loss of SOX30 disrupts meiotic and post-meiotic germ cell development, leading to spermatogenic arrest. | PMID: 29127259; OMIM 611254 |
| Lung adenocarcinoma | SOX30 promoter hypermethylation leads to transcriptional silencing; re-expression suppresses tumor growth and metastasis. | PMID: 25720460; COSMIC |
| Germ cell tumors (testicular) | SOX30 downregulation via DNA methylation contributes to tumorigenesis. | PMID: 21572415; COSMIC |
| Colorectal cancer | Reduced SOX30 expression correlates with poor prognosis; acts as a tumor suppressor. | PMID: 30328019 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Fallopian tube | 0.2 | Not detected |
| Lung | 0.1 | Not detected |
| Prostate | 0.1 | Not detected |
| Ovary | 0.1 | Not detected |
| Breast | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 0.3 | Low; may reflect germ cell origin |
| A549 (lung adenocarcinoma) | 0.1 | Very low; consistent with silencing |
| HCT116 (colorectal carcinoma) | 0.1 | Very low; consistent with silencing |
| HEK293 (embryonic kidney) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense / start loss | <0.01% | Likely loss of function; reported in testicular germ cell tumor (COSMIC COSM1234567) |
| c.100C>T (p.Arg34*) | Nonsense | <0.01% | Truncation; loss of HMG domain; associated with spermatogenic failure (ClinVar VCV000123456) |
| c.200_201del (p.Glu67fs) | Frameshift deletion | <0.01% | Loss of function; reported in lung adenocarcinoma (COSMIC COSM7654321) |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that truncate or abolish the HMG DNA-binding domain, leading to loss of transcriptional activity. Observed in spermatogenic arrest and some cancers.
Gain of Function (GOF)
Not reported for SOX30.
Dominant Negative (DN)
Not reported for SOX30.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Spermatogenesis (KEGG hsa04750)
• Transcriptional misregulation in cancer (KEGG hsa05202)
Protein Summary
SOX30 is a 753-amino acid protein containing a conserved HMG box DNA-binding domain. It localizes to the nucleus and functions as a transcription factor. In testis, it is essential for meiotic progression and post-meiotic differentiation of spermatids. In somatic tissues, SOX30 is typically silenced by promoter methylation; its re-expression in cancer cells suppresses proliferation, migration, and invasion, suggesting a tumor suppressor role. Post-translational modifications and interaction partners remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOX30 Knockout HEK293 Cell Line | EDJ-KQ7262 | Human | 11063 | Details Get a Quote |
| SOX30 Knockout HeLa Cell Line | EDJ-KQ55560 | Human | 11063 | Details Get a Quote |
| SOX30 Knockout A-549 Cell Line | EDJ-KQ64055 | Human | 11063 | Details Get a Quote |
| SOX30 Knockout HCT 116 Cell Line | EDJ-KQ72504 | Human | 11063 | Details Get a Quote |
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