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Aliases & Descriptions for SOX2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ANOP3 2 | | MCOPS3 2, 5 | | MGC2413 2 |
| | | Descriptions |
|---|
| SRY (sex determining region Y)-box 2 2 | | SRY-related HMG-box gene 2 2 | | sex-determining region Y-box 2 2 | | transcription factor SOX2 2 |
|
| | Search outside databases for aliases for SOX2 genePrevious GC identifers: GC03P178128 GC03P182273 GC03P182831 GC03P182750 |
Summaries for SOX2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for SOX2: This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq] UniProtKB/Swiss-Prot: SOX2_HUMAN, P48431Function: Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency (By similarity)Gene Wiki entry for SOX2 |
Genomic Location for SOX2
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the SOX2 gene 
Entrez Gene cytogenetic band: 3q26.3-q27 Ensembl cytogenetic band: 3q26.33 HGNC cytogenetic band: 3q26.3-q27SOX2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P182912:
(about GC identifiers)
Start:
|
182,912,416 bp from pter |
End:
|
182,914,918 bp from pter |
Size:
|
2,503 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000003.10 NT_005612.15
| Proteins for SOX2
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: SOX2_HUMAN, P48431 (See
protein sequence)Recommended Name: Transcription factor SOX-2 Size: 317 amino acids; 34310 Da
Subcellular location: Nucleus
PDB structures from and Proteopedia :1O4X (3D)
 
Secondary accessions: Q14537Post-translational modifications:
Sumoylation inhibits binding on DNA and negatively regulates the FGF4 transactivation (By similarity)1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_003097.1
ENSEMBL proteins: ENSP00000323588
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: SOX2 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for SOX2:  | Invitrogen Antibodies for SOX2 |  | Millipore Mono- and Polyclonal Antibodies for the study of SOX2 |  | Sigma-Aldrich Antibodies for SOX2 |  | R&D Systems Antibodies for SOX2 |  | Cell Signaling Technology (CST) Antibodies for SOX2  |  | Antibodies from Abcam (SOX2), each with their AbpromiseSM |  | Monoclonal and Polyclonal Antibodies from Abnova (SOX2) |  | Novus Biologicals Antibodies for SOX2 |
Assays for SOX2: | Protein
Domains/ Families for SOX2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P48431
ProtoNet protein and cluster: P48431 UniProtKB/Swiss-Prot: SOX2_HUMAN, P48431Similarity: Contains 1 HMG box DNA-binding domain | Gene Function for SOX2
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_003106
Applied Biosystems Silencer® siRNAs for SOX2
Sigma-Aldrich siRNA for SOX2  Sigma-Aldrich shRNA for SOX2  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_003106                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_003106                                  untagged cDNA clone in CMV expression vector: NM_003106 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: BC013923
UniProtKB/Swiss-Prot: SOX2_HUMAN, P48431Function: Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency (By similarity)Genatlas biochemistry entry for SOX2:SRY related HMG box gene 2,expressed in inner cell mass,primitive ectoderm,developing CNS,lens,induced by chordin,repressed by BMP4,activating FGF4,repressing osteopontin,inducing beta and delta crystallin expression,modulator of LINE retroposons promoter activity15/22 MGI mutant phenotypes (inferred from 14 alleles ) (MGI details for Sox2) (see all 22
):
4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for SOX2
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
4 Sigma-Aldrich "Your Favorite Gene" Pathways for SOX2 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for SOX2 
5/56 Interacting proteins for SOX2 (ENSP000003235883) via UniProtKB, MINT, and/or STRING (see all 56
)About this table
5/30 Gene Ontology (GO) biological process terms (links to tree view) (see all 30
): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter |
IEA | -- | | GO:0001708 | cell fate specification |
IEA | -- | | GO:0002052 | positive regulation of neuroblast proliferation |
IEA | -- | | GO:0006325 | establishment or maintenance of chromatin architecture |
NAS | 7849401 | | GO:0006350 | transcription |
IEA | -- | About this table
|
Drugs & Compounds for SOX2(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for SOX2 1 Novoseek chemical compound relationship for SOX2 gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| zinc |
0.00 |
2 |
8641144 (1), 9435279 (1) |
About this table
|
Transcripts for SOX2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_003106
Sigma-Aldrich siRNA for SOX2  Sigma-Aldrich shRNA for SOX2  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_003106 REFSEQ mRNAs for SOX2 gene: NM_003106.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_003106               OriGene GFP tagged cDNA clone in CMV expression vector: NM_003106                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_003106                                  untagged cDNA clone in CMV expression vector: NM_003106  Additional cDNA sequence: AK312595.1 BC013923.2 CR592780.1 L07335.1 Z31560.1 9 DOTS entries: DT.110032 DT.100779994 DT.91685066 DT.100649253 DT.120898896 DT.100025773 DT.100770335 DT.100643943 DT.91704238 24/138 AceView cDNA sequences (see all 138
):AI566840 BM719524 BF433292 BM718943 BU733331 AI364474 AI073494 BQ045260 AI360261 BM978785 BM700202 BM929439 AI573288 AU117840 CR592780 BF057693 Z31560 AW163619 AI936860 BM682840 BE792833 BE795592 AI933292 BC013923
highest scoring ESTs for SOX2:AI669815 AW006202 AW007161 L07335 AA079711 AA115853 AA121979 AA133334 AA133407 AA451892 Unigene Cluster for SOX2: SRY (sex determining region Y)-box 2 Hs.518438 [show with all ESTs]Unigene Representative Sequence: NM_003106
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000325404
|
Expression for SOX2
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| SOX2 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for SOX2
1 / 2 / 3 11 probe-sets matching SOX2 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GAGAAAACCC
SOURCE GeneReport for Unigene cluster: Hs.518438
Expression variation in blood from EXPOLDB for SOX2 |
Orthologs for SOX2
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for SOX2 gene from 5/10 species (see all 10
)
About this table Species with no ortholog for SOX2
ENSEMBL Gene Tree for SOX2 | Paralogs for SOX2(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for SOX2 gene
- SOX32 SOX212 SOX152 SOX12 SOX142
|
SNPs/Variants for SOX2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
The following additional 17 SNP(s) have been
found in Applied Biosystems data source: (Click
for
Applied Biosystems TaqMan ® Genotyping Assay)
HapMap Linkage Disequilibrium images for SOX2 (up to first 250kb)
|
Disorders & Mutations for SOX2
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 184429 disorders: 206900 206900 UniProtKB/Swiss-Prot: SOX2_HUMAN, P48431
Defects in SOX2 are the cause of microphthalmia syndromic type 3 (MCOPS3) [MIM:206900]. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS3 is characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with trachoesophageal fistula10 Novoseek disease relationships for SOX2 gene
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| anophthalmia |
86.63 |
14 |
17522144 (5), 18385794 (2), 15503273 (2), 16892407 (1) (see all 6) |
| microphthalmia |
76.95 |
9 |
17522144 (3), 18385794 (2), 16651659 (2), 18285410 (1) |
| eye abnormalities |
71.00 |
1 |
18385794 (1) |
| carcinoma embryonal |
58.88 |
3 |
9343393 (1), 9669521 (1), 17324942 (1) |
| metaplasia |
37.12 |
6 |
14719100 (2), 15910596 (1), 14655050 (1), 18190713 (1) |
| hearing loss sensorineural |
29.59 |
1 |
18407919 (1) |
| teratoma |
19.69 |
10 |
17464316 (5) |
| small cell lung cancer |
9.79 |
2 |
16077994 (1), 10760287 (1) |
| gastric cancer |
5.94 |
7 |
18268498 (3), 15910596 (1), 17136346 (1) |
| tumors |
0.00 |
1 |
15983380 (1) |
About this table
GeneTests: SOX2 Anophthalmia/Microphthalmia Human Gene Mutation Database: SOX2 Human Genome Epidemiology Navigator: SOX2 (1 document)
|
Medical News for SOX2(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for SOX2 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/135 PubMed articles for SOX2 gene (see all 135
):- The cDNA sequence and chromosomal location of the human SOX2 gene. (PubMed id 7849401)2, 3, 4 Stevanovic M....Goodfellow P. (1994)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Mutations in SOX2 cause anophthalmia. (PubMed id 12612584)3, 4 Fantes J.... FitzPatrick D.R. (2003)
- Expression of Sox2 in mature and immature teratomas of central nervous system. (PubMed id 17464316)1, 3 Phi J.H....Wang K.C. (2007)
- Aberrant expression of SOX2 upregulates MUC5AC gastric foveolar mucin in mucinous cancers of the colorectum and related lesions. (PubMed id 18027866)1, 3 Park E.T....Kim Y.S. (2008)
- SOX2 is frequently downregulated in gastric cancers and inhibits cell growth through cell-cycle arrest and apoptosis. (PubMed id 18268498)1, 3 Otsubo T....Yuasa Y. (2008)
- Transcription factor SOX2 up-regulates stomach-specific pepsinogen A gene expression. (PubMed id 17136346)1, 3 Tani Y....Yuasa Y. (2007)
- Expression of the SRY-related HMG box protein SOX2 in human gastric carcinoma. (PubMed id 14719100)1, 3 Li X.L....Yuasa Y. (2004)
- Identification of DPPA4 and other genes as putative Sox2:Oct-3/4 target genes using a combination of in silico analysis and transcription-based assays. (PubMed id 18366076)1, 3 Chakravarthy H....Rizzino A. (2008)
- Modulation of the activity of multiple transcriptional activation domains by the DNA binding domains mediates the synergistic action of Sox2 and Oct-3 on the fibroblast growth factor-4 enhancer. (PubMed id 10801796)1, 3 Ambrosetti D.C....Basilico C. (2000)
|
Search for SOX2
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SOX2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing SOX2
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SOX2(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=SOX2 | | Wikipedia | http://en.wikipedia.org/wiki/Sox2 |
|
| | | About This Section
| --
| Services for SOX2(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for SOX2:

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| Antibodies & Assays for SOX2  |
| | Recombinant Proteins (SOX2) | | Antibodies (SOX2) |
| | | Search Tocris compounds for SOX2 |
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Incremental update: 13 Oct 2009
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