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SOX11 (SRY (sex determining region Y)-box 11)

Written2010-01Xiao Wang, Birgitta Sander
Department 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)

(Note : for Links provided by Atlas : click)

Identity

Alias_namesSRY (sex determining region Y)-box 11
SRY box 11
Other alias
HGNC (Hugo) SOX11
LocusID (NCBI) 6664
Atlas_Id 42357
Location 2p25.2  [Link to chromosome band 2p25]
Location_base_pair Starts at 5692667 and ends at 5701385 bp from pter ( according to hg19-Feb_2009)  [Mapping SOX11.png]
Fusion genes
(updated 2016)
SOX11 (2p25.2) / ACTL8 (1p36.13)SOX11 (2p25.2) / PGK1 (Xq21.1)SOX11 (2p25.2) / ZFP36L2 (2p21)

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.

Protein

 
  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

Note
  
Entity 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 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 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:
- 50% of hairy cell leukemia (Chen et al., 2009; Dictor et al., 2009);
- 25-50% of Burkitt lymphoma cases (Dictor et al., 2009; Mozos et al., 2009);
- Almost all of B-cell lymphoblastic leukemia/lymphomas and T-cell lymphoblastic leukemia/lymphomas;
- 2/3 cases of T-cell prolymphocytic leukemia (Dictor et al., 2009; Mozos et al., 2009).
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 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.
  

Bibliography

The establishment of neuronal properties is controlled by Sox4 and Sox11.
Bergsland M, Werme M, Malewicz M, Perlmann T, Muhr J.
Genes Dev. 2006 Dec 15;20(24):3475-86.
PMID 17182872
 
The transcription factor Sox11 is a prognostic factor for improved recurrence-free survival in epithelial ovarian cancer.
Brennan DJ, Ek S, Doyle E, Drew T, Foley M, Flannelly G, O'Connor DP, Gallagher WM, Kilpinen S, Kallioniemi OP, Jirstrom K, O'Herlihy C, Borrebaeck CA.
Eur J Cancer. 2009 May;45(8):1510-7. Epub 2009 Mar 9.
PMID 19272768
 
Nuclear expression of sox11 is highly associated with mantle cell lymphoma but is independent of t(11;14)(q13;q32) in non-mantle cell B-cell neoplasms.
Chen YH, Gao J, Fan G, Peterson LC.
Mod Pathol. 2010 Jan;23(1):105-12. Epub 2009 Oct 2.
PMID 19801969
 
Strong lymphoid nuclear expression of SOX11 transcription factor defines lymphoblastic neoplasms, mantle cell lymphoma and Burkitt's lymphoma.
Dictor M, Ek S, Sundberg M, Warenholt J, Gyorgy C, Sernbo S, Gustavsson E, Abu-Alsoud W, Wadstrom T, Borrebaeck C.
Haematologica. 2009 Nov;94(11):1563-8.
PMID 19880779
 
The three SoxC proteins--Sox4, Sox11 and Sox12--exhibit overlapping expression patterns and molecular properties.
Dy P, Penzo-Mendez A, Wang H, Pedraza CE, Macklin WB, Lefebvre V.
Nucleic Acids Res. 2008 May;36(9):3101-17. Epub 2008 Apr 10.
PMID 18403418
 
Nuclear expression of the non B-cell lineage Sox11 transcription factor identifies mantle cell lymphoma.
Ek S, Dictor M, Jerkeman M, Jirstrom K, Borrebaeck CA.
Blood. 2008 Jan 15;111(2):800-5. Epub 2007 Oct 12.
PMID 17934069
 
Expression of Sox11 in adult neurogenic niches suggests a stage-specific role in adult neurogenesis.
Haslinger A, Schwarz TJ, Covic M, Chichung Lie D.
Eur J Neurosci. 2009 Jun;29(11):2103-14. Epub 2009 May 21.
PMID 19490090
 
Sox11 prevents tumorigenesis of glioma-initiating cells by inducing neuronal differentiation.
Hide T, Takezaki T, Nakatani Y, Nakamura H, Kuratsu J, Kondo T.
Cancer Res. 2009 Oct 15;69(20):7953-9. Epub 2009 Oct 6.
PMID 19808959
 
Sox11 transcription factor modulates peripheral nerve regeneration in adult mice.
Jankowski MP, McIlwrath SL, Jing X, Cornuet PK, Salerno KM, Koerber HR, Albers KM.
Brain Res. 2009 Feb 23;1256:43-54. Epub 2008 Dec 24.
PMID 19133245
 
The human SOX11 gene: cloning, chromosomal assignment and tissue expression.
Jay P, Goze C, Marsollier C, Taviaux S, Hardelin JP, Koopman P, Berta P.
Genomics. 1995 Sep 20;29(2):541-5.
PMID 8666406
 
Differential expression of SOX4 and SOX11 in medulloblastoma.
Lee CJ, Appleby VJ, Orme AT, Chan WI, Scotting PJ.
J Neurooncol. 2002 May;57(3):201-14.
PMID 12125983
 
SOX11 expression is highly specific for mantle cell lymphoma and identifies the cyclin D1-negative subtype.
Mozos A, Royo C, Hartmann E, De Jong D, Baro C, Valera A, Fu K, Weisenburger DD, Delabie J, Chuang SS, Jaffe ES, Ruiz-Marcellan C, Dave S, Rimsza L, Braziel R, Gascoyne RD, Sole F, Lopez-Guillermo A, Colomer D, Staudt LM, Rosenwald A, Ott G, Jares P, Campo E.
Haematologica. 2009 Nov;94(11):1555-62.
PMID 19880778
 
Critical roles for SoxC transcription factors in development and cancer.
Penzo-Mendez AI.
Int J Biochem Cell Biol. 2009 Aug 3. [Epub ahead of print]
PMID 19651233
 
Identification of a naturally processed T cell epitope derived from the glioma-associated protein SOX11.
Schmitz M, Wehner R, Stevanovic S, Kiessling A, Rieger MA, Temme A, Bachmann M, Rieber EP, Weigle B.
Cancer Lett. 2007 Jan 8;245(1-2):331-6. Epub 2006 Feb 28.
PMID 16504379
 
Gene targeting reveals a widespread role for the high-mobility-group transcription factor Sox11 in tissue remodeling.
Sock E, Rettig SD, Enderich J, Bosl MR, Tamm ER, Wegner M.
Mol Cell Biol. 2004 Aug;24(15):6635-44.
PMID 15254231
 
Members of the SRY family regulate the human LINE retrotransposons.
Tchenio T, Casella JF, Heidmann T.
Nucleic Acids Res. 2000 Jan 15;28(2):411-5.
PMID 10606637
 
The subcellular Sox11 distribution pattern identifies subsets of mantle cell lymphoma: correlation to overall survival.
Wang X, Asplund AC, Porwit A, Flygare J, Smith CI, Christensson B, Sander B.
Br J Haematol. 2008 Oct;143(2):248-52. Epub 2008 Aug 20.
PMID 18729857
 
Highly specific overexpression of the transcription factor SOX11 in human malignant gliomas.
Weigle B, Ebner R, Temme A, Schwind S, Schmitz M, Kiessling A, Rieger MA, Schackert G, Schackert HK, Rieber EP.
Oncol Rep. 2005 Jan;13(1):139-44.
PMID 15583815
 

Citation

This paper should be referenced as such :
Wang, X ; Sander, B
SOX11 (SRY (sex determining region Y)-box 11)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(11):1039-1041.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/SOX11ID42357ch2p25.html


External links

Nomenclature
HGNC (Hugo)SOX11   11191
Cards
AtlasSOX11ID42357ch2p25
Entrez_Gene (NCBI)SOX11  6664  SRY-box 11
AliasesMRD27
GeneCards (Weizmann)SOX11
Ensembl hg19 (Hinxton)ENSG00000176887 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000176887 [Gene_View]  chr2:5692667-5701385 [Contig_View]  SOX11 [Vega]
ICGC DataPortalENSG00000176887
TCGA cBioPortalSOX11
AceView (NCBI)SOX11
Genatlas (Paris)SOX11
WikiGenes6664
SOURCE (Princeton)SOX11
Genetics Home Reference (NIH)SOX11
Genomic and cartography
GoldenPath hg38 (UCSC)SOX11  -     chr2:5692667-5701385 +  2p25.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SOX11  -     2p25.2   [Description]    (hg19-Feb_2009)
EnsemblSOX11 - 2p25.2 [CytoView hg19]  SOX11 - 2p25.2 [CytoView hg38]
Mapping of homologs : NCBISOX11 [Mapview hg19]  SOX11 [Mapview hg38]
OMIM600898   615866   
Gene and transcription
Genbank (Entrez)AB028641 BC025789 BC160119 U23752
RefSeq transcript (Entrez)NM_003108
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SOX11
Cluster EST : UnigeneHs.432638 [ NCBI ]
CGAP (NCI)Hs.432638
Alternative Splicing GalleryENSG00000176887
Gene ExpressionSOX11 [ NCBI-GEO ]   SOX11 [ EBI - ARRAY_EXPRESS ]   SOX11 [ SEEK ]   SOX11 [ MEM ]
Gene Expression Viewer (FireBrowse)SOX11 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6664
GTEX Portal (Tissue expression)SOX11
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35716   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35716  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35716
Splice isoforms : SwissVarP35716
PhosPhoSitePlusP35716
Domaine pattern : Prosite (Expaxy)HMG_BOX_2 (PS50118)   
Domains : Interpro (EBI)HMG_box_dom    SOX-11   
Domain families : Pfam (Sanger)HMG_box (PF00505)   
Domain families : Pfam (NCBI)pfam00505   
Domain families : Smart (EMBL)HMG (SM00398)  
Conserved Domain (NCBI)SOX11
DMDM Disease mutations6664
Blocks (Seattle)SOX11
SuperfamilyP35716
Human Protein AtlasENSG00000176887
Peptide AtlasP35716
HPRD02940
IPIIPI00020435   
Protein Interaction databases
DIP (DOE-UCLA)P35716
IntAct (EBI)P35716
FunCoupENSG00000176887
BioGRIDSOX11
STRING (EMBL)SOX11
ZODIACSOX11
Ontologies - Pathways
QuickGOP35716
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  transcription regulatory region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription coactivator activity  enhancer sequence-specific DNA binding  skeletal system development  kidney development  neural tube formation  lens morphogenesis in camera-type eye  outflow tract morphogenesis  cardiac ventricle formation  noradrenergic neuron differentiation  transcription factor activity, sequence-specific DNA binding  nucleus  cytoplasm  transcription from RNA polymerase II promoter  translation  translation factor activity, RNA binding  positive regulation of cell proliferation  positive regulation of gene expression  negative regulation of gene expression  oligodendrocyte development  glial cell proliferation  neural crest cell development  regulation of transforming growth factor beta receptor signaling pathway  spinal cord development  glial cell development  neuron differentiation  positive regulation of BMP signaling pathway  positive regulation of hippo signaling  skeletal muscle cell differentiation  positive regulation of neuron differentiation  positive regulation of osteoblast differentiation  positive regulation of ossification  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of hormone secretion  sympathetic nervous system development  embryonic digestive tract morphogenesis  embryonic skeletal system morphogenesis  negative regulation of lymphocyte proliferation  positive regulation of neurogenesis  hard palate development  soft palate development  limb bud formation  negative regulation of glial cell proliferation  ventricular septum morphogenesis  lung morphogenesis  negative regulation of cell death  neuroepithelial cell differentiation  eyelid development in camera-type eye  somite development  cornea development in camera-type eye  closure of optic fissure  signal transduction involved in cell cycle checkpoint  positive regulation of stem cell proliferation  negative regulation of transcription regulatory region DNA binding  positive regulation of lens epithelial cell proliferation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  transcription regulatory region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription coactivator activity  enhancer sequence-specific DNA binding  skeletal system development  kidney development  neural tube formation  lens morphogenesis in camera-type eye  outflow tract morphogenesis  cardiac ventricle formation  noradrenergic neuron differentiation  transcription factor activity, sequence-specific DNA binding  nucleus  cytoplasm  transcription from RNA polymerase II promoter  translation  translation factor activity, RNA binding  positive regulation of cell proliferation  positive regulation of gene expression  negative regulation of gene expression  oligodendrocyte development  glial cell proliferation  neural crest cell development  regulation of transforming growth factor beta receptor signaling pathway  spinal cord development  glial cell development  neuron differentiation  positive regulation of BMP signaling pathway  positive regulation of hippo signaling  skeletal muscle cell differentiation  positive regulation of neuron differentiation  positive regulation of osteoblast differentiation  positive regulation of ossification  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of hormone secretion  sympathetic nervous system development  embryonic digestive tract morphogenesis  embryonic skeletal system morphogenesis  negative regulation of lymphocyte proliferation  positive regulation of neurogenesis  hard palate development  soft palate development  limb bud formation  negative regulation of glial cell proliferation  ventricular septum morphogenesis  lung morphogenesis  negative regulation of cell death  neuroepithelial cell differentiation  eyelid development in camera-type eye  somite development  cornea development in camera-type eye  closure of optic fissure  signal transduction involved in cell cycle checkpoint  positive regulation of stem cell proliferation  negative regulation of transcription regulatory region DNA binding  positive regulation of lens epithelial cell proliferation  
NDEx NetworkSOX11
Atlas of Cancer Signalling NetworkSOX11
Wikipedia pathwaysSOX11
Orthology - Evolution
OrthoDB6664
GeneTree (enSembl)ENSG00000176887
Phylogenetic Trees/Animal Genes : TreeFamSOX11
HOVERGENP35716
HOGENOMP35716
Homologs : HomoloGeneSOX11
Homology/Alignments : Family Browser (UCSC)SOX11
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSOX11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SOX11
dbVarSOX11
ClinVarSOX11
1000_GenomesSOX11 
Exome Variant ServerSOX11
ExAC (Exome Aggregation Consortium)SOX11 (select the gene name)
Genetic variants : HAPMAP6664
Genomic Variants (DGV)SOX11 [DGVbeta]
DECIPHERSOX11 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSOX11 
Mutations
ICGC Data PortalSOX11 
TCGA Data PortalSOX11 
Broad Tumor PortalSOX11
OASIS PortalSOX11 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSOX11  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSOX11
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SOX11
DgiDB (Drug Gene Interaction Database)SOX11
DoCM (Curated mutations)SOX11 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SOX11 (select a term)
intoGenSOX11
NCG5 (London)SOX11
Cancer3DSOX11(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600898    615866   
Orphanet321   
MedgenSOX11
Genetic Testing Registry SOX11
NextProtP35716 [Medical]
TSGene6664
GENETestsSOX11
Target ValidationSOX11
Huge Navigator SOX11 [HugePedia]
snp3D : Map Gene to Disease6664
BioCentury BCIQSOX11
ClinGenSOX11
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6664
Chemical/Pharm GKB GenePA36028
Clinical trialSOX11
Miscellaneous
canSAR (ICR)SOX11 (select the gene name)
Probes
Litterature
PubMed71 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSOX11
EVEXSOX11
GoPubMedSOX11
iHOPSOX11
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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