Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SOX4 (SRY (sex determining region Y)-box 4)

Identity

Other namesEVI16
OTTHUMP00000039358
HGNC (Hugo) SOX4
Location 6p22.3
Location_base_pair Starts at 21701951 and ends at 21706828 bp from pter ( according to hg18-Mar_2006)  [Mapping]

DNA/RNA

Description This intronless gene encompasses 4789 base pairs.
Transcription The mRNA transcript is 4789 base pairs.

Protein

Description The mRNA encodes a 47.3 kDa protein consisting of 474 amino acids.
Expression SOX4 appears to be fairly ubiquitously expressed at low levels in most adult tissues, with high levels found mostly in T lymphocytes. Its expression is up-regulated in many cancer types relative to benign tissue of origin (Rhodes et al., 2004).
Localisation Nucleus.
Function SOX4 is a member of the class I SRY-related HMG-box family of transcription factors. It has been shown to be involved in determination of cell fate and the regulation of embryonic development of many organ systems including heart (Restivo et al., 2006; Schilham et al., 1996), pancreas (Lioubinski et al., 2003; Wilson et al., 2005) and brain (Cheung et al., 2000; Hong and Saint-Jeannet, 2005). SOX4 has been shown to be a transcriptional activator in lymphocytes (van de Wetering et al., 1993) and facilitates B and T cell differentiation (Schilham et al., 1996; Schilham et al., 1997). SOX4 gene expression is up-regulated in many tumor types, with experimental evidence suggesting that this contributes to cellular transformation (Liu et al., 2006; Shin et al., 2004), control of apoptosis (Liu et al., 2006; Pramoonjago et al., 2006; Aaboe et al., 2006; Ahn et al., 2002) and/or a metastatic phenotype (Liao et al., 2008; Tavazoie et al., 2008).
Homology SOX4 is part of a family of Sox transcription factors that share significant homology. SOX4 is in the Group C Sox homology group that includes SOX11, SOX22 and SOX24. SOX4 shares the highest degree of homology with SOX11 (Bowles et al., 2000).

Implicated in

Entity Adenoid Cystic Carcinoma (ACC)
Note Gene expression profiling using micro arrays has shown SOX4 is one of the most up-regulated genes in ACC, relative to non-neoplastic tissue of origin (Frierson et al., 2002). Immunohistochemistry analysis confirms the up-regulation of SOX4 in primary ACC tumors compared to normal tissue (Pramoonjago et al., 2006).
Disease ACC is the second most common malignant salivary gland tumor, representing 28% of malignant submandibular gland tumors.
  
Entity Bladder Cancer
Note Whole genome expression profiling of 166 bladder tumors and 27 normal samples showed SOX4 up-regulated 5 fold in the tumors. When over-expressed in the bladder cell line HU609, SOX4 strongly impaired cell viability and promoted apoptosis (Aaboe et al., 2006).
Prognosis A correlation was found between strong SOX4 expression levels and increased patient survival.
  
Entity Breast Cancer
Note MicroRNA miR335 has been shown to regulate Sox4 levels and is frequently found lost in primary tumors of breast cancer patients who relapse (Tavazoie et al., 2008). In experimental model systems, it appears that SOX4 is a primary gene product associated with metastasis and migration.
  
Entity Leukemia
Note SOX4 transcript is found in high levels in B-ALL and T-ALL, but not in AML, CML, CLL, Sezary syndrome, or T cell prolymphocytic leukemia (Mallampati et al., 2008). Retroviral tagging in mouse models suggests a functional role for SOX4 in hematologic malignancies (Shin et al., 2004; Suzuki et al., 2002; Lund et al., 2002).
  
Entity Lung Cancer
Note SOX4 is upregulated is a significant percentage of lung cancers (Bangur et al., 2002; Friedman et al., 2004) and antibodies to this protein can be found in the serum of lung cancer patients (Friedman et al., 2004).
  
Entity Hepatocellular Carcinoma
Note Experimental manipulation of SOX4 in hepatocellular carcinoma cell line models suggests that SOX4 is pro-apoptotic in this tumor type (Ahn et al., 2002). Paradoxically, another group found that knocking down SOX4 expression in a hepatocellular carcinoma cell line decreased tumorigenicity (Liao et al., 2008).
  
Entity Medulloblastoma
Note SOX4 is significantly overexpressed in medulloblastoma compared to normal cerebellum and ependymoma (de Bont et al., 2008; Yokota et al., 2004).
Prognosis A trend was found towards increased survival with increased levels of expression of SOX4.
  
Entity Prostate Cancer
Note SOX4 has been show to be over-expressed in prostate tumor samples by microarray analysis, real-time PCR and immunohistochemistry. Additionally, stable transfection of Sox4 into non-transformed prostate cells form colonies in soft agar, suggesting SOX4 can be a transforming oncogene.
  

External links

Nomenclature
HGNC (Hugo)SOX4   11200
Entrez_Gene (NCBI)SOX4  6659  SRY (sex determining region Y)-box 4
Cards
AtlasSOX4ID42358ch6p22
GeneCards (Weizmann)SOX4
Ensembl (Hinxton)ENSG00000124766 [Gene_View]  SOX4 [Vega]
AceView (NCBI)SOX4
Genatlas (Paris)SOX4
euGene (Indiana)6659
SOURCE (Stanford)NM_003107
Gene Expression (Array Express) ENSG00000124766
Genomic and cartography
GoldenPath (UCSC)SOX4  -  6p22.3   chr6:21701951-21706828 +  6p22.3   [Description]    (hg18-Mar_2006)
EnsemblSOX4 - 6p22.3 [CytoView]
Mapping of homologs : NCBISOX4 [Mapview]
OMIM184430   
Gene and transcription
Gene : Genbank (Entrez)AF070669 AF124147 AJ420500 BC072668 BM459088
Reference sequence (RefSeq transcript) :SRSNM_003107
Reference transcript : EntrezNM_003107
RefSeq genomic : SRSAC_000049 AC_000138 NC_000006 NT_007592 NW_001838973 NW_922984
RefSeq genomic : EntrezAC_000049 AC_000138 NC_000006 NT_007592 NW_001838973 NW_922984
Consensus coding sequences : CCDS NCBISOX4
Cluster EST : UnigeneHs.643910 [ SRS ] Hs.643910 [ NCBI ]
Alternative Splicing : Fast-db (Paris)3390
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ06945 (SRS) Q06945 (Expasy) Q06945 (Uniprot)
With graphics : InterProQ06945
Splice isoforms : VarSplice FASTAQ06945(VarSplice FASTA)
Domaine pattern : Prosite (SRS)HMG_BOX_2 (PS50118)   
Domain pattern : Prosite (Expaxy)HMG_BOX_2 (PS50118)   
Domains : Interpro (SRS)HMG_HMG1/HMG2    HMG_superfamily    SOX-12/11/4a   
Domains : Interpro (EBI)HMG_HMG1/HMG2    HMG_superfamily    SOX-12/11/4a   
Related proteins : CluSTrQ06945
Domain families : Pfam SRSHMG_box (PF00505)   
Domain families : Pfam SangerHMG_box (PF00505)   
Domain families : Pfam NCBIpfam00505   
Domain families : Smart EMBLHMG (SM00398)  
Blocks (Seattle)Q06945
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD01695
Protein Interaction databases
DIP (DOE-UCLA)Q06945
IntAct (EBI)Q06945
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBISOX4
SNP : GeneSNP UtahSOX4
SNP : HGBaseSOX4
Genetic variants : HAPMAPSOX4
Somatic Mutations in Cancer : COSMICSOX4 
Mutations and Diseases : HGMDSOX4
Hereditary diseases : OMIM184430   
Hereditary diseases : GENETests184430   
Diseases : Genetic AssociationSOX4
General knowledge
Homologs : HomoloGeneSOX4
Homology/Alignments : Family Browser UCSCSOX4
Phylogenetic Trees/Animal Genes : TreeFamSOX4
Chemical/Protein Interactions : CTD6659
Keywords Ontology : AmiGOpro-B cell differentiation  transcription factor activity  protein binding  nucleus  cytoplasm  heart development  positive regulation of cell proliferation  positive regulation of Wnt receptor signaling pathway  T cell differentiation  exocrine pancreas development  positive regulation of apoptosis  negative regulation of apoptosis  positive regulation of transcription, DNA-dependent  protein stabilization  protein stabilization  Wnt receptor signaling pathway through beta-catenin  
Keywords Ontology : EGO-EBIpro-B cell differentiation  transcription factor activity  protein binding  nucleus  cytoplasm  heart development  positive regulation of cell proliferation  positive regulation of Wnt receptor signaling pathway  T cell differentiation  exocrine pancreas development  positive regulation of apoptosis  negative regulation of apoptosis  positive regulation of transcription, DNA-dependent  protein stabilization  protein stabilization  Wnt receptor signaling pathway through beta-catenin  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesSOX4 Related clones (RZPD - Berlin)
Literature
PubMed36 Pubmed reference(s) in Entrez
PubGeneSOX4

Bibliography

Sox-4, an Sry-like HMG box protein, is a transcriptional activator in lymphocytes.
van de Wetering M, Oosterwegel M, van Norren K, Clevers H.
EMBO J. 1993 Oct;12(10):3847-54.
PMID 8404853
 
Defects in cardiac outflow tract formation and pro-B-lymphocyte expansion in mice lacking Sox-4.
Schilham MW, Oosterwegel MA, Moerer P, Ya J, de Boer PA, van de Wetering M, Verbeek S, Lamers WH, Kruisbeek AM, Cumano A, Clevers H.
Nature. 1996 Apr 25;380(6576):711-4.
PMID 8614465
 
Sox-4 facilitates thymocyte differentiation.
Schilham MW, Moerer P, Cumano A, Clevers HC.
Eur J Immunol. 1997 May;27(5):1292-5.
PMID 9174623
 
Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators.
Bowles J, Schepers G, Koopman P.
Dev Biol. 2000 Nov 15;227(2):239-55. Review
PMID 11071752
 
Roles of Sox4 in central nervous system development.
Cheung M, Abu-Elmagd M, Clevers H, Scotting PJ.
Brain Res Mol Brain Res. 2000 Jun 23;79(1-2):180-91.
PMID 10925158
 
Sox-4 is a positive regulator of Hep3B and HepG2 cells' apoptosis induced by prostaglandin (PG)A(2) and delta(12)-PGJ(2).
Ahn SG, Kim HS, Jeong SW, Kim BE, Rhim H, Shim JY, Kim JW, Lee JH, Kim IK.
Exp Mol Med. 2002 Jul 31;34(3):243-9.
PMID 12216117
 
Identification of genes over-expressed in small cell lung carcinoma using suppression subtractive hybridization and cDNA microarray expression analysis.
Bangur CS, Switzer A, Fan L, Marton MJ, Meyer MR, Wang T.
Oncogene. 2002 May 23;21(23):3814-25.
PMID 12032850
 
Large scale molecular analysis identifies genes with altered expression in salivary adenoid cystic carcinoma.
Frierson HF Jr, El-Naggar AK, Welsh JB, Sapinoso LM, Su AI, Cheng J, Saku T, Moskaluk CA, Hampton GM.
Am J Pathol. 2002 Oct;161(4):1315-23.
PMID 12368205
 
Genome-wide retroviral insertional tagging of genes involved in cancer in Cdkn2a-deficient mice.
Lund AH, Turner G, Trubetskoy A, Verhoeven E, Wientjens E, Hulsman D, Russell R, DePinho RA, Lenz J, van Lohuizen M.
Nat Genet. 2002 Sep;32(1):160-5. Epub 2002 Aug 19.
PMID 12185367
 
New genes involved in cancer identified by retroviral tagging.
Suzuki T, Shen H, Akagi K, Morse HC, Malley JD, Naiman DQ, Jenkins NA, Copeland NG.
Nat Genet. 2002 Sep;32(1):166-74. Epub 2002 Aug 19.
PMID 12185365
 
Expression of Sox transcription factors in the developing mouse pancreas.
Lioubinski O, Muller M, Wegner M, Sander M.
Dev Dyn. 2003 Jul;227(3):402-8.
PMID 12815626
 
Molecular and immunological evaluation of the transcription factor SOX-4 as a lung tumor vaccine antigen.
Friedman RS, Bangur CS, Zasloff EJ, Fan L, Wang T, Watanabe Y, Kalos M.
J Immunol. 2004 Mar 1;172(5):3319-27.
PMID 14978140
 
Large-scale meta-analysis of cancer microarray data identifies common transcriptional profiles of neoplastic transformation and progression.
Rhodes DR, Yu J, Shanker K, Deshpande N, Varambally R, Ghosh D, Barrette T, Pandey A, Chinnaiyan AM.
Proc Natl Acad Sci U S A. 2004 Jun 22;101(25):9309-14. Epub 2004 Jun 7.
PMID 15184677
 
High-throughput retroviral tagging for identification of genes involved in initiation and progression of mouse splenic marginal zone lymphomas.
Shin MS, Fredrickson TN, Hartley JW, Suzuki T, Akagi K, Morse HC 3rd.
Cancer Res. 2004 Jul 1;64(13):4419-27.
PMID 15231650
 
Identification of differentially expressed and developmentally regulated genes in medulloblastoma using suppression subtraction hybridization.
Yokota N, Mainprize TG, Taylor MD, Kohata T, Loreto M, Ueda S, Dura W, Grajkowska W, Kuo JS, Rutka JT.
Oncogene. 2004 Apr 22;23(19):3444-53.
PMID 15064731
 
Sox proteins and neural crest development.
Hong CS, Saint-Jeannet JP.
Semin Cell Dev Biol. 2005 Dec;16(6):694-703. Epub 2005 Jul 21. Review
PMID 16039883
 
The HMG box transcription factor Sox4 contributes to the development of the endocrine pancreas.
Wilson ME, Yang KY, Kalousova A, Lau J, Kosaka Y, Lynn FC, Wang J, Mrejen C, Episkopou V, Clevers HC, German MS.
Diabetes. 2005 Dec;54(12):3402-9.
PMID 16306355
 
SOX4 expression in bladder carcinoma: clinical aspects and in vitro functional characterization.
Aaboe M, Birkenkamp-Demtroder K, Wiuf C, Sorensen FB, Thykjaer T, Sauter G, Jensen KM, Dyrskjot L, Orntoft T.
Cancer Res. 2006 Apr 1;66(7):3434-42.
PMID 16585165
 
Sex-determining region Y box 4 is a transforming oncogene in human prostate cancer cells.
Liu P, Ramachandran S, Ali Seyed M, Scharer CD, Laycock N, Dalton WB, Williams H, Karanam S, Datta MW, Jaye DL, Moreno CS.
Cancer Res. 2006 Apr 15;66(8):4011-9.
PMID 16618720
 
Knockdown of Sox4 expression by RNAi induces apoptosis in ACC3 cells.
Pramoonjago P, Baras AS, Moskaluk CA.
Oncogene. 2006 Sep 14;25(41):5626-39. Epub 2006 Apr 24.
PMID 16636670
 
Cardiac outflow tract: a review of some embryogenetic aspects of the conotruncal region of the heart.
Restivo A, Piacentini G, Placidi S, Saffirio C, Marino B.
Anat Rec A Discov Mol Cell Evol Biol. 2006 Sep;288(9):936-43. Review
PMID 16892424
 
Differential expression and prognostic significance of SOX genes in pediatric medulloblastoma and ependymoma identified by microarray analysis.
de Bont JM, Kros JM, Passier MM, Reddingius RE, Sillevis Smitt PA, Luider TM, den Boer ML, Pieters R.
Neuro Oncol. 2008 Oct;10(5):648-60. Epub 2008 Jun 24.
PMID 18577562
 
Identification of SOX4 target genes using phylogenetic footprinting-based prediction from expression microarrays suggests that overexpression of SOX4 potentiates metastasis in hepatocellular carcinoma.
Liao YL, Sun YM, Chau GY, Chau YP, Lai TC, Wang JL, Horng JT, Hsiao M, Tsou AP.
Oncogene. 2008 May 26. [Epub ahead of print]
PMID 18504433
 
Rooting into the soil, a model for the role of Sox4 in leukemia.
Mallampati S, Baohua S, Gong Y, Wang E, You M, Amin H, et al.
American Society of Hematology Annual Meeting; San Francisco, Abstract 3794; CA 2008.
 
Endogenous human microRNAs that suppress breast cancer metastasis.
Tavazoie SF, Alarcon C, Oskarsson T, Padua D, Wang Q, Bos PD, Gerald WL, Massague J.
Nature. 2008 Jan 10;451(7175):147-52.
PMID 18185580
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written01-2009David L Satinover, Chris A Moskaluk
Dept. of Pathology and Dept. of Biochemistry and Molecular Genetics P.O. Box 800214 University of Virginia Health System Charlottesville, VA 22908, USA

Citation

This paper should be referenced as such :
Satinover DL, Moskaluk CA . SOX4 (SRY (sex determining region Y)-box 4). Atlas Genet Cytogenet Oncol Haematol. January 2009 .
URL : http://AtlasGeneticsOncology.org/Genes/SOX4ID42358ch6p22.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 6 13:44:16 CET 2010

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.