SOX11 (SRY (sex determining region Y)-box 11)
2010-01-01 Xiao Wang , Birgitta Sander AffiliationDepartment of Pathology, F46, Karolinska Institutet, SE 141 86 Stockholm, Sweden (XW); Department of Pathology, F46, Karolinska University Hospital, Karolinska Institutet, SE 141 86 Stockholm, Sweden (BS)
DNA/RNA
The human SOX11 gene. The only exon is indicated by the red box. The number above the box shows the size of the exon.
Description
The intronless gene encompasses 8718 base pairs and is located at 2p25.2.
Transcription
The mRNA SOX11 transcript contains one exon with 8718 base pairs.
Proteins
The human SOX11 protein and functional domains. Numbers indicate the amino acid positions at the beginning and the end of each domain. The grey bar shows the High-Mobility-Group (HMG) box DNA-binding domain; and the dark blue bar shows the TransActivation Domain (TAD).
Description
The human SOX11 protein has 441 amino acids and 46.7 KDa molecular weight. It contains two functional domains: a Sry-related high-mobility group (HMG) box (Sox) DNA-binding domain, located in the N-terminal third (47-122), and a transactivation domain (TAD), located at the C-terminus (408-441) (Dy et al., 2008; Penzo-Méndez, 2009).
Expression
SOX11 is widely expressed during organogenesis in the embryo and is highly expressed in the central and peripheral nervous system of the human fetus (Jay et al., 1995; Sock et al., 2004). SOX11 expression is more restricted by birth, and low transcript levels of SOX11 were detected in adult colon, small intestine, heart and brain (Weigle et al., 2005). High level of SOX11 mRNA is only present in normal prostate tissue (Brennan et al., 2009).
Localisation
Nucleus.
Function
SOX11 contains domains that may function as transcriptional activators or repressors and is a member of the group C SOX transcription factor family. It appears to have critical roles in embryonic neurogenesis and development of many organ systems including heart, palate and eyelids (Sock et al., 2004). SOX11 can, together with SOX4, regulate the differentiation of neuronal progenitors (Bergsland et al., 2006). SOX11 is involved in the transcriptional regulation of specific gene expression programs in adult neurogenesis at the stage of the immature neuron (Haslinger et al., 2009). SOX11 controls morphological maturation such as neurite growth (Jankowski et al., 2006) and modulates the regeneration following peripheral nerve injury (Jankowski et al., 2009). The class-III beta-tubulin gene TUBB3 is the first and still the unique gene to be identified as a direct target of SOX11 (Dy et al., 2008). SOX11 has been suggested to bind and regulate LINE retrotransposons (Tchénio, 2000).
Homology
The two domains are highly conserved regions between species (from human to fly). In the SOX C group, consisting of SOX4, SOX11 and SOX12, the HMG box and C33 domains are more highly conserved among Sox4 orthologues and SOX11 orthologues than among SOX12.
Implicated in
Entity name
Malignant glioma
Note
SOX11 was identified by screening an expression database for genes highly expressed in glioblastoma multiforme (Weigle et al., 2005). Overexpression of SOX11 can prevent tumorigenesis of glioma-initiating cells by inducing their neuronal differentiation (Hide et al., 2009).
Disease
Malignant glioma comprises of the majority of primary brain tumors with 16800 new cases reported each year in USA.
Prognosis
SOX11 can serve as a target antigen for glioma-directed cytotoxic T lymphocytes (CTLs), and this novel CTL epitope may serve as a suitable candidate for a T cell-based immunotherapy of glioma patients (Schmitz et al., 2007).
Entity name
Medulloblastoma
Note
SOX11 has been shown to be overexpressed in most classical medulloblastomas (Lee et al., 2002).
Disease
Medulloblastomas are brain tumors occurred in the cerebellum.
Entity name
Haematological malignancies
Note
Overexpression of SOX11 was first described as a unique marker for a specific malignant B cell lymphoma, mantle cell lymphoma (Ek et al., 2008; Wang et al., 2008).
Subsequent studies have demonstrated that Sox11 is also present in:
- 2/3 cases of T-cell prolymphocytic leukemia (Dictor et al., 2009; Mozos et al., 2009). - Almost all of B-cell lymphoblastic leukemia/lymphomas and T-cell lymphoblastic leukemia/lymphomas;
Subsequent studies have demonstrated that Sox11 is also present in:
- 2/3 cases of T-cell prolymphocytic leukemia (Dictor et al., 2009; Mozos et al., 2009). - Almost all of B-cell lymphoblastic leukemia/lymphomas and T-cell lymphoblastic leukemia/lymphomas;
Prognosis
Expression of SOX11 in mantle cell lymphoma is not only a new diagnostic marker but may also carry information related to the clinical and biological behaviour (Wang et al., 2008).
Entity name
Ovarian cancer
Note
SOX11 is overexpressed in many epithelial ovarian cancers, and loss of Sox11 is associated with a decreased recurrence-free survival and a more aggressive phenotype (Brennan et al., 2009).
Prognosis
SOX11 is differently expressed in epithelial ovarian cancer and is a prognostic marker.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|
Other Information
Locus ID:
NCBI: 6664
MIM: 600898
HGNC: 11191
Ensembl: ENSG00000176887
Variants:
dbSNP: 6664
ClinVar: 6664
TCGA: ENSG00000176887
COSMIC: SOX11
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000176887 | ENST00000322002 | P35716 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37916390 | 2024 | Impaired communication ability in SOX11 syndrome. | 0 |
| 38237141 | 2024 | SOX11 is a novel binding partner and endogenous inhibitor of SAMHD1 ara-CTPase activity in mantle cell lymphoma. | 0 |
| 38570586 | 2024 | SOX11/PRDX2 axis modulates redox homeostasis and chemoresistance in aggressive mantle cell lymphoma. | 0 |
| 38620074 | 2024 | SOX11 expression is restricted to EBV-negative Burkitt lymphoma and is associated with molecular genetic features. | 0 |
| 37916390 | 2024 | Impaired communication ability in SOX11 syndrome. | 0 |
| 38237141 | 2024 | SOX11 is a novel binding partner and endogenous inhibitor of SAMHD1 ara-CTPase activity in mantle cell lymphoma. | 0 |
| 38570586 | 2024 | SOX11/PRDX2 axis modulates redox homeostasis and chemoresistance in aggressive mantle cell lymphoma. | 0 |
| 38620074 | 2024 | SOX11 expression is restricted to EBV-negative Burkitt lymphoma and is associated with molecular genetic features. | 0 |
| 36369738 | 2023 | Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing loss. | 1 |
| 36571426 | 2023 | Silencing SOX11 Alleviates Allergic Rhinitis by Inhibiting Epithelial-Derived Cytokines. | 1 |
| 36584910 | 2023 | A Positive Loop Formed by SOX11 and Periostin Upregulates TGF-β Signals Leading to Skin Fibrosis. | 2 |
| 36745184 | 2023 | SOX11 Is an Effective Discriminatory Marker, When Used in Conjunction With CK20 and TTF1, for Merkel Cell Carcinoma: Comparative Analysis of SOX11, CK20, PAX5, and TTF1 Expression in Merkel Cell Carcinoma and Pulmonary Small Cell Carcinoma. | 2 |
| 36882421 | 2023 | SOX11 regulates SWI/SNF complex components as member of the adrenergic neuroblastoma core regulatory circuitry. | 8 |
| 36369738 | 2023 | Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing loss. | 1 |
| 36571426 | 2023 | Silencing SOX11 Alleviates Allergic Rhinitis by Inhibiting Epithelial-Derived Cytokines. | 1 |
Citation
Xiao Wang ; Birgitta Sander
SOX11 (SRY (sex determining region Y)-box 11)
Atlas Genet Cytogenet Oncol Haematol. 2010-01-01
Online version: http://atlasgeneticsoncology.org/gene/42357/sox11
