SOX11 Gene: SRY-Box Transcription Factor 11
A key developmental transcription factor implicated in neurogenesis, B-cell development, and cancer (Mantle Cell Lymphoma, Medulloblastoma).
Gene Information Card
| Symbol | SOX11 |
|---|---|
| Full Name | SRY-box transcription factor 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p25.1 |
| NCBI Gene ID | 6664 ncbi.nlm.nih.gov/gene/6664 |
| Ensembl ID | ENSG00000176887 |
| UniProt ID | P35716 |
| OMIM ID | 600898 |
| HGNC ID | 11191 |
| Aliases | MRD27, SOX-11, FLJ17062 |
Description
SOX11 is a member of the SOX (SRY-related HMG-box) family of transcription factors, characterized by a highly conserved high-mobility group (HMG) DNA-binding domain. It plays critical roles in embryonic development, particularly in neurogenesis, skeletal development, and B-cell lymphopoiesis. SOX11 is involved in the regulation of gene expression by binding to DNA and modulating chromatin structure. It is frequently overexpressed in Mantle Cell Lymphoma (MCL) and is used as a diagnostic biomarker. Additionally, SOX11 mutations are associated with Coffin-Siris syndrome-like phenotypes and intellectual disability. In cancer, SOX11 can act as either an oncogene or tumor suppressor depending on the cellular context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mantle Cell Lymphoma (MCL) | Overexpression of SOX11 in B-cells promotes tumorigenesis by modulating PAX5 and other B-cell differentiation genes, leading to a more aggressive phenotype. | ClinVar, COSMIC, multiple studies (e.g., Mozos et al., 2009) |
| Medulloblastoma (SHH subtype) | SOX11 is overexpressed in SHH-activated medulloblastoma and promotes tumor growth by maintaining neural progenitor-like state. | COSMIC, PubMed (e.g., Lee et al., 2013) |
| Coffin-Siris syndrome-like syndrome / Intellectual Disability (MRD27) | Heterozygous loss-of-function mutations in SOX11 cause neurodevelopmental delay, microcephaly, and facial dysmorphism. | ClinVar, OMIM (600898) |
| Breast Cancer | SOX11 expression is associated with triple-negative breast cancer and poor prognosis, possibly via promoting epithelial-mesenchymal transition. | COSMIC, PubMed (e.g., Zvelebil et al., 2013) |
| Glioblastoma | SOX11 is downregulated in glioblastoma, and its loss promotes tumor aggressiveness, suggesting a tumor suppressor role. | COSMIC, PubMed (e.g., Hide et al., 2009) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (hippocampus) | 11.8 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Lymph node | 6.5 | Low |
| Spleen | 5.1 | Low |
| Testis | 4.3 | Low |
| Adrenal gland | 3.2 | Low |
| Liver | 0.8 | Not detected |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCL cell lines (e.g., Jeko-1, Granta-519) | High (nTPM > 50) | Strong overexpression, diagnostic marker |
| SHH medulloblastoma cell lines (e.g., DAOY) | High (nTPM > 30) | Overexpressed, promotes proliferation |
| Embryonic stem cells (H1) | Moderate (nTPM ~ 20) | Expressed during neural differentiation |
| HeLa (cervical carcinoma) | Low (nTPM ~ 2) | Minimal expression |
| K562 (chronic myelogenous leukemia) | Low (nTPM ~ 1) | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116Ter) | Nonsense | Rare (germline) | Loss-of-function; causes intellectual disability (MRD27) |
| c.448C>T (p.Arg150Ter) | Nonsense | Rare (germline) | Loss-of-function; associated with Coffin-Siris-like phenotype |
| c.541A>G (p.Thr181Ala) | Missense | Rare (somatic, COSMIC) | Likely loss-of-function; reduced DNA binding |
| c.602G>A (p.Arg201His) | Missense | Rare (somatic, COSMIC) | Uncertain; possibly gain-of-function in lymphoma |
| c.1-? (promoter hypermethylation) | Epigenetic | Frequent in glioblastoma | Silencing of SOX11 expression, tumor suppressor loss |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated proteins or haploinsufficiency are associated with neurodevelopmental disorders (MRD27). In cancer, loss of SOX11 in glioblastoma promotes aggressiveness, indicating tumor suppressor function.
Gain of Function (GOF)
Overexpression (not mutation) is the primary mechanism in MCL and SHH medulloblastoma, where SOX11 acts as an oncogene by promoting cell proliferation and survival. Somatic missense mutations may enhance transcriptional activity in some lymphomas, but evidence is limited.
Dominant Negative (DN)
No clear dominant-negative mutations have been reported for SOX11. However, some missense mutations in the HMG domain may impair DNA binding and could exert a dominant-negative effect if the mutant protein retains dimerization capacity, but this is speculative.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977) |
| • RNA polymerase II core promoter proximal region sequence-specific binding (GO:0000982) | • Chromatin binding (GO:0003682) |
| • Regulation of transcription by RNA polymerase II (GO:0006357) | • Nervous system development (GO:0007399) |
| • Cell differentiation (GO:0030154) | • B cell differentiation (GO:0002327) |
| • Positive regulation of cell proliferation (GO:0008284) | • Negative regulation of cell differentiation (GO:0045596) |
Pathways
• Neural crest cell differentiation (KEGG: hsa04550)
• Signaling pathways regulating pluripotency of stem cells (KEGG: hsa04550)
• Transcriptional regulation by SOX11 in B-cell development (Reactome: R-HSA-9617629)
• SHH signaling in medulloblastoma (Reactome: R-HSA-5610785)
• p53 pathway (via interaction with TP53) (Reactome: R-HSA-5633007)
Protein Summary
SOX11 is a 441-amino acid transcription factor with a central HMG DNA-binding domain. It binds to the consensus sequence (A/T)(A/T)CAA(A/T)G and regulates target gene expression by bending DNA and recruiting co-activators or co-repressors. SOX11 is essential for embryonic neurogenesis, where it maintains neural progenitor identity and promotes neuronal differentiation. In the immune system, it is required for B-cell development and is a hallmark of Mantle Cell Lymphoma. Structurally, SOX11 contains a nuclear localization signal and a transactivation domain at the C-terminus. Post-translational modifications, such as phosphorylation, modulate its activity. Its expression is tightly regulated during development and is often aberrantly reactivated in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOX11 Knockout HEK293 Cell Line | EDJ-KQ2749 | Human | 6664 | Details Get a Quote |
| SOX11 Knockout HeLa Cell Line | EDJ-KQ54540 | Human | 6664 | Details Get a Quote |
| SOX11 Knockout A-549 Cell Line | EDJ-KQ63024 | Human | 6664 | Details Get a Quote |
| SOX11 Knockout HCT 116 Cell Line | EDJ-KQ71500 | Human | 6664 | Details Get a Quote |
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