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Aliases for SOX2 Gene

Aliases for SOX2 Gene

  • SRY (Sex Determining Region Y)-Box 2 2 3
  • MCOPS3 3 6
  • SRY-Related HMG-Box Gene 2 3
  • Transcription Factor SOX-2 3
  • Transcription Factor SOX2 3
  • ANOP3 3

External Ids for SOX2 Gene

Summaries for SOX2 Gene

Entrez Gene Summary for SOX2 Gene

  • 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, Jul 2008]

GeneCards Summary for SOX2 Gene

SOX2 (SRY (Sex Determining Region Y)-Box 2) is a Protein Coding gene. Diseases associated with SOX2 include central nervous system teratoma and sox2 anophthalmia syndrome. Among its related pathways are ERK Signaling and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is SOX3.

UniProtKB/Swiss-Prot for SOX2 Gene

  • 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 (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency. May function as a switch in neuronal development. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity). Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity).

Gene Wiki entry for SOX2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOX2 Gene

Genomics for SOX2 Gene

Genomic Location for SOX2 Gene

Start:
181,711,924 bp from pter
End:
181,714,436 bp from pter
Size:
2,513 bases
Orientation:
Plus strand

Genomic View for SOX2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SOX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOX2 Gene

Regulatory Elements for SOX2 Gene

Proteins for SOX2 Gene

  • Protein details for SOX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48431-SOX2_HUMAN
    Recommended name:
    Transcription factor SOX-2
    Protein Accession:
    P48431
    Secondary Accessions:
    • Q14537

    Protein attributes for SOX2 Gene

    Size:
    317 amino acids
    Molecular mass:
    34310 Da
    Quaternary structure:
    • Interacts with ZSCAN10. Interacts with SOX3 and FGFR1.
    SequenceCaution:
    • Sequence=AAA35997.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA83435.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SOX2 Gene

neXtProt entry for SOX2 Gene

Proteomics data for SOX2 Gene at MOPED

Post-translational modifications for SOX2 Gene

  • Sumoylation inhibits binding on DNA and negatively regulates the FGF4 transactivation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SOX2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SOX2 Gene

Domains for SOX2 Gene

Gene Families for SOX2 Gene

HGNC:
  • SOX :SRY (sex determining region Y)-boxes

Protein Domains for SOX2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

SOX2_HUMAN
Domain:
  • Contains 1 HMG box DNA-binding domain.:
    • P48431
genes like me logo Genes that share domains with SOX2: view

Function for SOX2 Gene

Molecular function for SOX2 Gene

GENATLAS Biochemistry: 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 activity
UniProtKB/Swiss-Prot Function: 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 (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency. May function as a switch in neuronal development. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity). Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity).

Gene Ontology (GO) - Molecular Function for SOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IEA --
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity --
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0003677 DNA binding NAS 7849401
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with SOX2: view
genes like me logo Genes that share phenotypes with SOX2: view

Animal Models for SOX2 Gene

MGI Knock Outs for SOX2:
Targeting motifs for SOX2 Gene
HOMER Transcription Factor Regulatory Elements motif SOX2
  • Consensus sequence: CCCATTGTTC Submotif: canonical Cell Type: mES GeoId: GSE11431

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting for SOX2 Gene

Localization for SOX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOX2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SOX2 Gene COMPARTMENTS Subcellular localization image for SOX2 gene
Compartment Confidence
cytosol 5
nucleus 5
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for SOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 7849401
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex TAS 19736317
GO:0005737 cytoplasm IDA 18027866
GO:0005829 cytosol IDA 18000303
genes like me logo Genes that share ontologies with SOX2: view

Pathways for SOX2 Gene

genes like me logo Genes that share pathways with SOX2: view

Gene Ontology (GO) - Biological Process for SOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001649 osteoblast differentiation IDA 18187129
GO:0001654 eye development IEP 18285410
GO:0001708 cell fate specification --
GO:0001714 endodermal cell fate specification IDA 21245162
genes like me logo Genes that share ontologies with SOX2: view

Compounds for SOX2 Gene

(2) Novoseek inferred chemical compound relationships for SOX2 Gene

Compound -log(P) Hits PubMed IDs
retinoic acid 2.72 3
zinc 0 2
genes like me logo Genes that share compounds with SOX2: view

Transcripts for SOX2 Gene

mRNA/cDNA for SOX2 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(138) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SOX2 Gene

SRY (sex determining region Y)-box 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SOX2 Gene

No ASD Table

Relevant External Links for SOX2 Gene

GeneLoc Exon Structure for
SOX2
ECgene alternative splicing isoforms for
SOX2

Expression for SOX2 Gene

mRNA expression in normal human tissues for SOX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SOX2 Gene

This gene is overexpressed in Brain - Amygdala (5.1), Brain - Nucleus accumbens (basal ganglia) (5.0), Brain - Caudate (basal ganglia) (5.0), Brain - Putamen (basal ganglia) (4.2), and Brain - Hippocampus (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SOX2 Gene

SOURCE GeneReport for Unigene cluster for SOX2 Gene Hs.518438

genes like me logo Genes that share expressions with SOX2: view

Orthologs for SOX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SOX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SOX2 36
  • 97.69 (n)
  • 96.53 (a)
SOX2 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SOX2 36
  • 94.64 (n)
  • 97.48 (a)
SOX2 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SOX2 36
  • 96.32 (n)
  • 97.16 (a)
SOX2 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sox2 36
  • 93.48 (n)
  • 97.16 (a)
Sox2 16
Sox2 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SOX2 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SOX2 37
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sox2 36
  • 93.8 (n)
  • 97.16 (a)
chicken
(Gallus gallus)
Aves SOX2 36
  • 85.93 (n)
  • 93.97 (a)
SOX2 37
  • 94 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.18817 36
tropical clawed frog
(Silurana tropicalis)
Amphibia sox2 36
  • 79.42 (n)
  • 87.78 (a)
Str.6201 36
zebrafish
(Danio rerio)
Actinopterygii sox2 36
  • 81.1 (n)
  • 87.58 (a)
sox2 37
  • 88 (a)
OneToOne
wufc14d07 36
fruit fly
(Drosophila melanogaster)
Insecta SoxN 37
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sox-2 37
  • 36 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4045 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 34 (a)
OneToMany
Species with no ortholog for SOX2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SOX2 Gene

ENSEMBL:
Gene Tree for SOX2 (if available)
TreeFam:
Gene Tree for SOX2 (if available)

Paralogs for SOX2 Gene

Selected SIMAP similar genes for SOX2 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for SOX2 Gene

genes like me logo Genes that share paralogs with SOX2: view

Variants for SOX2 Gene

Relevant External Links for SOX2 Gene

HapMap Linkage Disequilibrium report
SOX2
Human Gene Mutation Database (HGMD)
SOX2
Locus Specific Mutation Databases (LSDB)
SOX2

No data available for Sequence variations from dbSNP and Humsavar and Structural Variations from Database of Genomic Variants (DGV) for SOX2 Gene

Disorders for SOX2 Gene

(1) OMIM Diseases for SOX2 Gene (184429)

UniProtKB/Swiss-Prot

SOX2_HUMAN
  • Microphthalmia, syndromic, 3 (MCOPS3) [MIM:206900]: A disease characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with trachoesophageal fistula. Microphthalmia is a 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. {ECO:0000269 PubMed:12612584}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(10) Novoseek inferred disease relationships for SOX2 Gene

Disease -log(P) Hits PubMed IDs
anophthalmia 85.4 13
microphthalmia 75.3 8
eye abnormalities 67.2 1
carcinoma embryonal 58.6 3
teratoma 46.1 5

Relevant External Links for SOX2

GeneTests
SOX2
GeneReviews
SOX2
Genetic Association Database (GAD)
SOX2
Human Genome Epidemiology (HuGE) Navigator
SOX2
genes like me logo Genes that share disorders with SOX2: view

Publications for SOX2 Gene

  1. SOX2 has gender-specific genetic effects on diabetic nephropathy in samples from patients with type 1 diabetes mellitus in the GoKinD study. (PMID: 20114006) Gu H.F. … Brismar K. (Gend Med 2009) 3 23 49
  2. The cDNA sequence and chromosomal location of the human SOX2 gene. (PMID: 7849401) Stevanovic M. … Goodfellow P. (Mamm. Genome 1994) 2 3 4
  3. Mutations in SOX2 cause anophthalmia. (PMID: 12612584) Fantes J. … FitzPatrick D.R. (Nat. Genet. 2003) 3 4
  4. SOX2 modulates alternative splicing in transitional cell carcinoma. (PMID: 20138825) Tung C.L. … Li C. (Biochem. Biophys. Res. Commun. 2010) 3 23
  5. Complex architecture and regulated expression of the Sox2ot locus during vertebrate development. (PMID: 19767420) Amaral P.P. … Mattick J.S. (RNA 2009) 3 23

Products for SOX2 Gene

  • Addgene plasmids for SOX2

Sources for SOX2 Gene

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