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SOX2 (SRY (sex determining region Y)-box 2)

Written2011-07Biaoyang Lin, Xuefeng Huang, Xu Han, Greg Foltz
Swedish Medical Center, Seattle, WA, USA (BL, GF); Systems Biology Division, Zhejiang-California International NanoSystems Institute, Zhejiang University, Kaixuan Road 268, 310029, Hangzhou, China (BL, XH, XH)

(Note : for Links provided by Atlas : click)

Identity

Alias_namesSRY (sex determining region Y)-box 2
SRY box 2
Other aliasANOP3
MCOPS3
MGC2413
HGNC (Hugo) SOX2
LocusID (NCBI) 6657
Atlas_Id 44064
Location 3q26.33  [Link to chromosome band 3q26]
Location_base_pair Starts at 181429712 and ends at 181432223 bp from pter ( according to hg19-Feb_2009)  [Mapping SOX2.png]
Fusion genes
(updated 2016)
SOX2 (3q26.33) / TPRG1 (3q28)TPRG1 (3q28) / SOX2 (3q26.33)

DNA/RNA

Note There is an SOX2OT (SOX2 overlapping transcript) that encodes a non-coding RNA. SOX2OT contains at least five exons and is transcribed into a mRNA of about 3.4 kb from the same strand as SOX2.
 
  A picture showing the relationship between SOX2 and SOX2OT (adapted from http://genome.ucsc.edu).
Description SOX2 is a single exon gene that encodes a member of the SRY-related HMG-box (SOX) family of transcription factors. The SOX2 single exon contains the 5' untranslated region, CDS region and the 3' untranslated region (427 bp, 954 bp, 1122 bp). The HMG box is a DNA binding domain that is highly conserved throughout eukaryotic species.
Transcription The 2503 bases of human SOX2 mRNA contains an open reading frame of 954 bases, resulting in a protein of 318 amino acid residues.

Protein

 
  The 3D structure for the ternary complex of the DNA binding domains of the Oct1 and Sox2 transcription factors with a 19mer oligonucleotide [5'- D(Tpgptpcptptptpgptpcpaptpgpcptpapaptpg) -3'], left view (http://oca.weizmann.ac.il/oca-bin/ccpeek?id=1O4X). The top chain molecule is the SOX2 DNA binding domain.
Description The SOX2 protein binds to DNA. The 3D structure for the ternary complex of the DNA binding domains of the Oct1 and Sox2 transcription factors with a 19mer oligonucleotide was solved (Williams et al., 2004; http://oca.weizmann.ac.il).
Expression SOX2 is overexpressed in stem cells and many different kinds of cancer cells, including glioma, breast cancer, colorectal cancer and etc.
Localisation Nucleus and cytoplasm.
Function SOX2 is involved in the regulation of embryonic development and in the determination of cell fate. SOX2 is one of the four transcription factors (SOX2, KLF4, OCT4 and c-Myc), whose over expression can induce pluripotency in both mice and human somatic cells (Takahashi and Yamanaka, 2006; Takahashi et al., 2007). Again, SOX2 is one of the genes in another set of four factors (OCT4, SOX2, NANOG and LIN28) that were able to reprogram human somatic cells to pluripotent stem cells and that exhibit the essential characteristics of embryonic stem (ES) cells (Yu et al., 2007). SOX2 is one of the two factors (SOX2 and OCT4) that were sufficient to generate induced pluripotent stem cells from human cord blood cells (Giorgetti et al., 2010).
Homology So far, twenty SOX genes have been identified in humans and mice and they can be divided into 10 subgroups on the basis of sequence similarity and genomic organization (Bowles et al., 2000; Schepers et al., 2002). SOX genes bind to the minor groove in DNA to control diverse developmental processes (Wegner, 1999). Three genes, SOX1, SOX2 and SOX3, show the closest homology to SRY and share the maximum homology within the HMG domain. These genes also share significant homology outside the HMG box and are highly conserved throughout their evolution.

Mutations

Germinal Mutations in SOX2 cause anophthalmia (no eye), microphthalmia (small eye) and associated ocular developmental anomalies. Fantes identified two nonsense amino-acid changes (S83X and E93X) in the HMG box (high-mobility group DNA-binding domain), which could lead to ablate DNA binding (Fantes et al., 2003). They also observed a recurrent de novo nonsense mutation (529C->T resulting in the amino-acid change Q177X) (Fantes et al., 2003). Additional mutations were later reported for new cases (Bakrania et al., 2007; Pedace et al., 2009; Williamson et al., 2006). SOX2 mutation also caused hearing loss, and brain anomalies (Hagstrom et al., 2005), hypogonadotropic hypogonadism (Sato et al., 2007), ocular coloboma (Wang et al., 2008).

Implicated in

Note
  
Entity Glioma
Note SOX2 expression was found to be highly expressed in almost all glioma samples. In agreement with the heterogeneity of the cell population present in each glioma, typically containing cells at various stages of differentiation, SOX2 is expressed in a highly variable percentage of cells, in the range of 6%-80% in different samples (Annovazzi et al., 2011; Gangemi et al., 2009).
Disease Gliomas are the primary cancers derived from glial cells in the brain. It is the most frequent cerebral neoplasias. Astrocytomas are the most common type of gliomas. They are slow-growing, and can be found anywhere in the brain, but most often found in the cerebrum. They can be clinically divided into four grades, with glioblastoma (World Health Organization grade IV) being the most common and aggressive.
  
  
Entity Lung cancer (small cell lung cancer; lung squamous cell carcinomas)
Note SOX2 was detected in 50% SCLC cell lines. Hussenet et al. identified SOX2 as an oncogene and likely driver gene of one of the most frequent amplification sites in lung SCC (Hussenet et al., 2010; Sholl et al., 2010a; Sholl et al., 2010b).
Disease Lung cancer results from the uncontrolled growth of abnormal cells in lungs. It is the leading cause of cancer death for both men and women. Close to 90 percent of lung cancers are smoking related.
Small cell lung cancer (SCLC) is a highly aggressive form of lung cancer that accounts for approximately 20% of all cases of lung cancer. SCLC is a carcinoma of neuroendocrine origin, in contrast to non-SCLC (NSCLC), which is of bronchial epithelial origin.
Squamous cell carcinoma (SCC) of the lung is a frequent and aggressive cancer type. It is closely correlated with a history of tobacco smoking, more so than most other types of lung carcinoma (Hussenet et al., 2010).
  
  
Entity Gastric cancer (stomach cancer)
Note SOX2 expression was significantly down-regulated in gastric carcinoma tissues compared with normal gastric epithelia. SOX2 could induce cell-cycle arrest associated with decreased levels of CCND1 and phosphorylated Rb, and up-regulated p27Kip1 level (Otsubo et al., 2008).
Disease Gastric cancer, commonly referred to as stomach cancer, forms in tissues that line the stomach. Adenocarcinomas is the most comnon type (90-95%),but there are other types of stomach cancer including squamous cell carcinoma, lymphoma, and stromal tumors. Gastric cancer is the second most frequent cause of death from cancer in both sexes in the world.
  
  
Entity Breast cancer
Note SOX2 nuclear protein level was highly associated with basal-like phenotype in human breast cancer. Knockdown of SOX2 could inhibit tumorgenesis in vitro and in vivo (Chen et al., 2008).
Disease Breast cancer forms in the tissues of one or both breasts. It primarily affects women, but can also occur in children and men. It can be a highly curable disease if detected and treated early.
  
  
Entity Colorectal cancer
Note SOX2 expression in colorectal cancer tissues was found overexpressed in the cancerous tissues compared to normal adjacent tissues. Knockdown of SOX2 in colorectal cancer cells decreased their growth rates in vitro cell line and in vivo in xenograft models (Fang et al., 2010).
Disease Colorectal cancer is the second most common malignancy in cancer patients and cause of cancer-related mortality. Colorectal cancers develop slowly over many years, initially as a polyp in the inner lining of the colon or rectum, which may progress into cancerous lesions called adenocarcinomas. More than 95 percent of colorectal cancers are adenocarcinomas. Removing the polyp early may prevent progession to cancer. Other less common types of colorectal cancers include carcinoid tumors, gastrointestinal stromal tumors and lymphomas.
  

Bibliography

SOX2 expression and amplification in gliomas and glioma cell lines.
Annovazzi L, Mellai M, Caldera V, Valente G, Schiffer D.
Cancer Genomics Proteomics. 2011 May-Jun;8(3):139-47.
PMID 21518820
 
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.
Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK.
Br J Ophthalmol. 2007 Nov;91(11):1471-6. Epub 2007 May 23.
PMID 17522144
 
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
 
The molecular mechanism governing the oncogenic potential of SOX2 in breast cancer.
Chen Y, Shi L, Zhang L, Li R, Liang J, Yu W, Sun L, Yang X, Wang Y, Zhang Y, Shang Y.
J Biol Chem. 2008 Jun 27;283(26):17969-78. Epub 2008 May 2.
PMID 18456656
 
ChIP-seq and functional analysis of the SOX2 gene in colorectal cancers.
Fang X, Yu W, Li L, Shao J, Zhao N, Chen Q, Ye Z, Lin SC, Zheng S, Lin B.
OMICS. 2010 Aug;14(4):369-84.
PMID 20726797
 
Mutations in SOX2 cause anophthalmia.
Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR.
Nat Genet. 2003 Apr;33(4):461-3. Epub 2003 Mar 3.
PMID 12612584
 
SOX2 silencing in glioblastoma tumor-initiating cells causes stop of proliferation and loss of tumorigenicity.
Gangemi RM, Griffero F, Marubbi D, Perera M, Capra MC, Malatesta P, Ravetti GL, Zona GL, Daga A, Corte G.
Stem Cells. 2009 Jan;27(1):40-8.
PMID 18948646
 
Generation of induced pluripotent stem cells from human cord blood cells with only two factors: Oct4 and Sox2.
Giorgetti A, Montserrat N, Rodriguez-Piza I, Azqueta C, Veiga A, Izpisua Belmonte JC.
Nat Protoc. 2010;5(4):811-20. Epub 2010 Apr 1.
PMID 20360773
 
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
Hagstrom SA, Pauer GJ, Reid J, Simpson E, Crowe S, Maumenee IH, Traboulsi EI.
Am J Med Genet A. 2005 Oct 1;138A(2):95-8.
PMID 16145681
 
SOX2 is an oncogene activated by recurrent 3q26.3 amplifications in human lung squamous cell carcinomas.
Hussenet T, Dali S, Exinger J, Monga B, Jost B, Dembele D, Martinet N, Thibault C, Huelsken J, Brambilla E, du Manoir S.
PLoS One. 2010 Jan 29;5(1):e8960.
PMID 20126410
 
SOX2 is frequently downregulated in gastric cancers and inhibits cell growth through cell-cycle arrest and apoptosis.
Otsubo T, Akiyama Y, Yanagihara K, Yuasa Y.
Br J Cancer. 2008 Feb 26;98(4):824-31. Epub 2008 Feb 12.
PMID 18268498
 
A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.
Pedace L, Castori M, Binni F, Pingi A, Grammatico B, Scommegna S, Majore S, Grammatico P.
Eur J Med Genet. 2009 Jul-Aug;52(4):273-6. Epub 2009 Feb 28.
PMID 19254784
 
Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.
Sato N, Kamachi Y, Kondoh H, Shima Y, Morohashi K, Horikawa R, Ogata T.
Eur J Endocrinol. 2007 Feb;156(2):167-71.
PMID 17287405
 
Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families.
Schepers GE, Teasdale RD, Koopman P.
Dev Cell. 2002 Aug;3(2):167-70. (REVIEW)
PMID 12194848
 
Sox2 protein expression is an independent poor prognostic indicator in stage I lung adenocarcinoma.
Sholl LM, Barletta JA, Yeap BY, Chirieac LR, Hornick JL.
Am J Surg Pathol. 2010a Aug;34(8):1193-8.
PMID 20631605
 
Sox2 expression in pulmonary non-small cell and neuroendocrine carcinomas.
Sholl LM, Long KB, Hornick JL.
Appl Immunohistochem Mol Morphol. 2010b Jan;18(1):55-61.
PMID 19661786
 
Induction of pluripotent stem cells from adult human fibroblasts by defined factors.
Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, Tomoda K, Yamanaka S.
Cell. 2007 Nov 30;131(5):861-72.
PMID 18035408
 
Novel SOX2 mutation associated with ocular coloboma in a Chinese family.
Wang P, Liang X, Yi J, Zhang Q.
Arch Ophthalmol. 2008 May;126(5):709-13.
PMID 18474784
 
From head to toes: the multiple facets of Sox proteins.
Wegner M.
Nucleic Acids Res. 1999 Mar 15;27(6):1409-20. (REVIEW)
PMID 10037800
 
Molecular basis for synergistic transcriptional activation by Oct1 and Sox2 revealed from the solution structure of the 42-kDa Oct1.Sox2.Hoxb1-DNA ternary transcription factor complex.
Williams DC Jr, Cai M, Clore GM.
J Biol Chem. 2004 Jan 9;279(2):1449-57. Epub 2003 Oct 14.
PMID 14559893
 
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR.
Hum Mol Genet. 2006 May 1;15(9):1413-22. Epub 2006 Mar 16.
PMID 16543359
 
Induced pluripotent stem cell lines derived from human somatic cells.
Yu J, Vodyanik MA, Smuga-Otto K, Antosiewicz-Bourget J, Frane JL, Tian S, Nie J, Jonsdottir GA, Ruotti V, Stewart R, Slukvin II, Thomson JA.
Science. 2007 Dec 21;318(5858):1917-20. Epub 2007 Nov 20.
PMID 18029452
 

Citation

This paper should be referenced as such :
Lin, B ; Huang, X ; Han, X ; Foltz, G
SOX2 (SRY (sex determining region Y)-box 2)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(12):1054-1057.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/SOX2ID44064ch3q26.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Lung: Translocations in Small Cell Carcinoma
Lung: Translocations in Squamous Cell Carcinoma


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Holoprosencephaly-diencephalic hamartoblastoma (HDH).


External links

Nomenclature
HGNC (Hugo)SOX2   11195
LRG (Locus Reference Genomic)LRG_719
Cards
AtlasSOX2ID44064ch3q26
Entrez_Gene (NCBI)SOX2  6657  SRY-box 2
AliasesANOP3; MCOPS3
GeneCards (Weizmann)SOX2
Ensembl hg19 (Hinxton)ENSG00000181449 [Gene_View]  chr3:181429712-181432223 [Contig_View]  SOX2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000181449 [Gene_View]  chr3:181429712-181432223 [Contig_View]  SOX2 [Vega]
ICGC DataPortalENSG00000181449
TCGA cBioPortalSOX2
AceView (NCBI)SOX2
Genatlas (Paris)SOX2
WikiGenes6657
SOURCE (Princeton)SOX2
Genetics Home Reference (NIH)SOX2
Genomic and cartography
GoldenPath hg19 (UCSC)SOX2  -     chr3:181429712-181432223 +  3q26.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SOX2  -     3q26.33   [Description]    (hg38-Dec_2013)
EnsemblSOX2 - 3q26.33 [CytoView hg19]  SOX2 - 3q26.33 [CytoView hg38]
Mapping of homologs : NCBISOX2 [Mapview hg19]  SOX2 [Mapview hg38]
OMIM184429   189960   206900   
Gene and transcription
Genbank (Entrez)AK312595 AW016610 AW163619 BC013923 BF305585
RefSeq transcript (Entrez)NM_003106
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_009080 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)SOX2
Cluster EST : UnigeneHs.732963 [ NCBI ]
CGAP (NCI)Hs.732963
Alternative Splicing GalleryENSG00000181449
Gene ExpressionSOX2 [ NCBI-GEO ]   SOX2 [ EBI - ARRAY_EXPRESS ]   SOX2 [ SEEK ]   SOX2 [ MEM ]
Gene Expression Viewer (FireBrowse)SOX2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6657
GTEX Portal (Tissue expression)SOX2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48431   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48431  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48431
Splice isoforms : SwissVarP48431
PhosPhoSitePlusP48431
Domaine pattern : Prosite (Expaxy)HMG_BOX_2 (PS50118)   
Domains : Interpro (EBI)HMG_box_dom    SOX-2    SOX_fam   
Domain families : Pfam (Sanger)HMG_box (PF00505)    SOXp (PF12336)   
Domain families : Pfam (NCBI)pfam00505    pfam12336   
Domain families : Smart (EMBL)HMG (SM00398)  
Conserved Domain (NCBI)SOX2
DMDM Disease mutations6657
Blocks (Seattle)SOX2
PDB (SRS)1O4X    2LE4   
PDB (PDBSum)1O4X    2LE4   
PDB (IMB)1O4X    2LE4   
PDB (RSDB)1O4X    2LE4   
Structural Biology KnowledgeBase1O4X    2LE4   
SCOP (Structural Classification of Proteins)1O4X    2LE4   
CATH (Classification of proteins structures)1O4X    2LE4   
SuperfamilyP48431
Human Protein AtlasENSG00000181449
Peptide AtlasP48431
HPRD08921
IPIIPI00009703   
Protein Interaction databases
DIP (DOE-UCLA)P48431
IntAct (EBI)P48431
FunCoupENSG00000181449
BioGRIDSOX2
STRING (EMBL)SOX2
ZODIACSOX2
Ontologies - Pathways
QuickGOP48431
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  transcription regulatory region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  osteoblast differentiation  eye development  endodermal cell fate specification  DNA binding  DNA binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytoplasm  cytosol  chromatin organization  regulation of transcription, DNA-templated  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  cell cycle arrest  response to wounding  regulation of gene expression  glial cell fate commitment  pituitary gland development  adenohypophysis development  positive regulation of cell-cell adhesion  forebrain development  somatic stem cell population maintenance  somatic stem cell population maintenance  somatic stem cell population maintenance  miRNA binding  tissue regeneration  regulation of cysteine-type endopeptidase activity involved in apoptotic process  positive regulation of MAPK cascade  sequence-specific DNA binding  transcription regulatory region DNA binding  positive regulation of cell differentiation  negative regulation of neuron differentiation  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  inner ear development  negative regulation of epithelial cell proliferation  response to growth factor  negative regulation of canonical Wnt signaling pathway  neuronal stem cell population maintenance  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  transcription regulatory region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  osteoblast differentiation  eye development  endodermal cell fate specification  DNA binding  DNA binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytoplasm  cytosol  chromatin organization  regulation of transcription, DNA-templated  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  cell cycle arrest  response to wounding  regulation of gene expression  glial cell fate commitment  pituitary gland development  adenohypophysis development  positive regulation of cell-cell adhesion  forebrain development  somatic stem cell population maintenance  somatic stem cell population maintenance  somatic stem cell population maintenance  miRNA binding  tissue regeneration  regulation of cysteine-type endopeptidase activity involved in apoptotic process  positive regulation of MAPK cascade  sequence-specific DNA binding  transcription regulatory region DNA binding  positive regulation of cell differentiation  negative regulation of neuron differentiation  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  inner ear development  negative regulation of epithelial cell proliferation  response to growth factor  negative regulation of canonical Wnt signaling pathway  neuronal stem cell population maintenance  
Pathways : KEGGHippo signaling pathway   
REACTOMEP48431 [protein]
REACTOME Pathways2892245 [pathway]   2892247 [pathway]   3769402 [pathway]   452723 [pathway]   6785807 [pathway]   
NDEx NetworkSOX2
Atlas of Cancer Signalling NetworkSOX2
Wikipedia pathwaysSOX2
Orthology - Evolution
OrthoDB6657
GeneTree (enSembl)ENSG00000181449
Phylogenetic Trees/Animal Genes : TreeFamSOX2
HOVERGENP48431
HOGENOMP48431
Homologs : HomoloGeneSOX2
Homology/Alignments : Family Browser (UCSC)SOX2
Gene fusions - Rearrangements
Fusion : MitelmanSOX2/TPRG1 [3q26.33/3q28]  
Fusion : MitelmanTPRG1/SOX2 [3q28/3q26.33]  [t(3;3)(q26;q28)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSOX2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SOX2
dbVarSOX2
ClinVarSOX2
1000_GenomesSOX2 
Exome Variant ServerSOX2
ExAC (Exome Aggregation Consortium)SOX2 (select the gene name)
Genetic variants : HAPMAP6657
Genomic Variants (DGV)SOX2 [DGVbeta]
DECIPHER (Syndromes)3:181429712-181432223  ENSG00000181449
CONAN: Copy Number AnalysisSOX2 
Mutations
ICGC Data PortalSOX2 
TCGA Data PortalSOX2 
Broad Tumor PortalSOX2
OASIS PortalSOX2 [ Somatic mutations - Copy number]
Cancer Gene: CensusSOX2 
Somatic Mutations in Cancer : COSMICSOX2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSOX2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MRC Human Genetics Unit LOVD at MRC IGMM
BioMutasearch SOX2
DgiDB (Drug Gene Interaction Database)SOX2
DoCM (Curated mutations)SOX2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SOX2 (select a term)
intoGenSOX2
NCG5 (London)SOX2
Cancer3DSOX2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM184429    189960    206900   
Orphanet2825    3713    11110   
MedgenSOX2
Genetic Testing Registry SOX2
NextProtP48431 [Medical]
TSGene6657
GENETestsSOX2
Huge Navigator SOX2 [HugePedia]
snp3D : Map Gene to Disease6657
BioCentury BCIQSOX2
ClinGenSOX2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6657
Chemical/Pharm GKB GenePA36032
Clinical trialSOX2
Miscellaneous
canSAR (ICR)SOX2 (select the gene name)
Probes
Litterature
PubMed357 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSOX2
EVEXSOX2
GoPubMedSOX2
iHOPSOX2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Apr 12 11:39:57 CEST 2017

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