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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 associat... See more...
Aliases for SOX2 Gene
Aliases for SOX2 Gene
External Ids for SOX2 Gene
- HGNC: 11195
- Entrez Gene: 6657
- Ensembl: ENSG00000181449
- OMIM: 184429
- UniProtKB: P48431
Previous GeneCards Identifiers for SOX2 Gene
- GC03P178128
- GC03P182273
- GC03P182831
- GC03P182750
- GC03P182912
- GC03P181429
- GC03P178834
Summaries 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-Box Transcription Factor 2) is a Protein Coding gene. Diseases associated with SOX2 include Microphthalmia, Syndromic 3 and Septooptic Dysplasia. Among its related pathways are Preimplantation Embryo and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is SOX1.
UniProtKB/Swiss-Prot Summary 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). Binds to the proximal enhancer region of NANOG (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency (PubMed:18035408). 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). May function as a switch in neuronal development (By similarity).
Additional gene information for SOX2 Gene
- HGNC(11195)
- Entrez Gene(6657)
- Ensembl(ENSG00000181449)
- OMIM(184429)
- UniProtKB(P48431)
- Open Targets Platform(ENSG00000181449)
- Monarch Initiative
- Search for SOX2 at DataMed
- Search for SOX2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOX2 Gene
Genomics for SOX2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SOX2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SOX2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SOX2
- Top Transcription factor binding sites by QIAGEN in the SOX2 gene promoter:
-
- aMEF-2
- Egr-2
- GATA-6
- ISGF-3
- MEF-2A
- MyoD
- MZF-1
- RFX1
- Sp1
Genomic Locations for SOX2 Gene
Genomic Locations for SOX2 Gene
- chr3:181,711,925-181,714,436
- (GRCh38/hg38)
- Size:
- 2,512 bases
- Orientation:
- Plus strand
- chr3:181,429,712-181,432,224
- (GRCh37/hg19)
- Size:
- 2,513 bases
- Orientation:
- Plus strand
Genomic View for SOX2 Gene
Genes around SOX2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3q26.33 by HGNC
- 3q26.33 by Entrez Gene
- 3q26.33 by Ensembl
SOX2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence 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
- Q14537
Protein attributes for SOX2 Gene
- Size:
- 317 amino acids
- Molecular mass:
- 34310 Da
- Quaternary structure:
-
- Interacts with ZSCAN10 (By similarity). Interacts with SOX3 and FGFR1 (By similarity). Interacts with GLIS1 (PubMed:21654807). Interacts with POU5F1; binds synergistically with POU5F1 to DNA (By similarity).
- SequenceCaution:
-
- Sequence=AAA35997.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAA83435.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for SOX2 Gene
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:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences SOX2 Antibody (LS-B1901) and SOX2 Antibody (LS-B4562)
- RayBiotech Rabbit anti-SOX2 antibody
- GeneTex Anti-SOX2 antibody [GT1876] and Anti-SOX2 antibody [N1C3]
- NSJ Bioreagents SOX2 Antibody (Mouse Monoclonal)
- Creative Diagnostics Anti-SOX2 monoclonal antibody, clone Cukdf
- HUABIO SOX2 Antibody (R1106-1) and Anti-SOX2 Antibody
-
BioLegend
- SOX2 (NH2 terminus) Antibody (630801)
- SOX2 (NH2 terminus) Antibody (630802)
- SOX2 Antibody (656102)
- SOX2 Antibody (656104)
- SOX2 Antibody (656103)
- SOX2 Antibody (656106)
- SOX2 Antibody (656108)
- SOX2 Antibody (656110)
- SOX2 Antibody (656109)
- SOX2 Antibody (656112)
- SOX2 Antibody (656111)
- SOX2 Antibody (656114)
- Direct-Blot(TM) SOX2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for SOX2
- Novus Biologicals Antibodies for SOX2
-
Abcam antibodies for SOX2
- Invitrogen Antibodies for SOX2 (AFLGC-SOX2)
- antibodies-online: Show 122 available SOX2 Antibodies ranked by validation data
- Compare Top SOX2 Antibodies
-
Recommended
- 387 WB Antibodies (anti-human)
- 31 FACS Antibodies (anti-human)
- 12 DB Antibodies (anti-human)
- 11 IF Antibodies (anti-human)
- 11 IHC (p) Antibodies (anti-human)
- 10 IF (p) Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 2 BCA Antibodies (anti-human)
- 2 IF/ICC Antibodies (anti-human)
- 1 IP Antibody (anti-human)
- 84 WB Antibodies (anti-rat)
- 10 IF (p) Antibodies (anti-rat)
- 7 FACS Antibodies (anti-rat)
- 1 IF/ICC Antibody (anti-rat)
- 1 IHC Antibody (anti-rat)
- 143 WB Antibodies (anti-mouse)
- 25 FACS Antibodies (anti-mouse)
- 10 IF (p) Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 1 IF/ICC Antibody (anti-mouse)
-
Custom Antibody ServicesProSci Antibodies for SOX2
-
Santa Cruz Biotechnology (SCBT) Antibodies for SOX2
- Sino Biological Antibodies for SOX2
Protein Products
- RayBiotech Recombinant Human SOX2 protein and Recombinant Human SOX2
- Creative Biomart Recombinant Human SRY (Sex Determining Region Y)-Box 2, His-tagged
- Search Origene for MassSpec and Protein Over-expression Lysates for SOX2
- Origene Custom Protein Services for SOX2
- ProSpec Recombinant Proteins for SOX2
-
ProSci Proteins for SOX2
-
Abcam proteins for SOX2
Assay Products
- antibodies-online: Show 42 available SOX2 Elisa Kits ranked by validation data
- Compare Top SOX2 Elisa Kits
-
Quality Products:
- ABIN5526732
- ABIN823864
- ABIN1117083
- ABIN5523597
- ABIN5593928
- ABIN511607
- ABIN4991326
- ABIN2951959
- ABIN6220811
- ABIN5069714
- ABIN823865
- ABIN773772
- ABIN1162455
- ABIN1117084
- ABIN416513
- ABIN1572490
- ABIN5523598
- ABIN772436
- ABIN5658767
- ABIN2538951
- ABIN6220825
- ABIN2951380
- ABIN5070736
- ABIN777658
- ABIN1566671
- ABIN6220807
-
Signalway ELISA kits for SOX2
No data available for DME Specific Peptides for SOX2 Gene
Domains & Families for SOX2 Gene
Gene Families for SOX2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for SOX2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SOX2 Gene
- GenScript: Design optimal peptide antigens:
-
- Transcription factor SOX-2 (SOX2_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SOX2 Gene
Function for SOX2 Gene
Molecular function for SOX2 Gene
- 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). Binds to the proximal enhancer region of NANOG (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency (PubMed:18035408). 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). May function as a switch in neuronal development (By similarity).
- 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
LifeMap Function Summary for SOX2 Gene
SOX2 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
-
and also in
Phenotypes From GWAS Catalog for SOX2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | IEA | -- |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
| GO:0003677 | DNA binding | NAS | 7849401 |
| GO:0003700 | DNA-binding transcription factor activity | NAS | 7849401 |
Phenotypes for SOX2 Gene
- MGI mutant phenotypes for SOX2:
-
inferred from 24 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- normal phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- pigmentation phenotype
- craniofacial phenotype
- no phenotypic analysis
- taste/olfaction phenotype
- GenomeRNAi human phenotypes for SOX2:
Animal Models for SOX2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SOX2 - Select products 50% OFF >
- * SOX2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SOX2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX2
-
Santa Cruz Biotechnology (SCBT) CRISPR for SOX2
miRNA for SOX2 Gene
- miRTarBase miRNAs that target SOX2
-
- hsa-miR-145-5p (MIRT000307)
- mmu-miR-134-5p (MIRT001000)
- hsa-miR-126-3p (MIRT005370)
- hsa-miR-522-3p (MIRT005692)
- hsa-miR-34a-5p (MIRT006223)
- hsa-miR-34b-3p (MIRT006226)
- hsa-miR-34c-5p (MIRT006227)
- hsa-miR-140-5p (MIRT007030)
- hsa-miR-429 (MIRT007184)
- hsa-miR-128-3p (MIRT021924)
- hsa-miR-122-5p (MIRT023259)
- hsa-miR-21-5p (MIRT030694)
- hsa-miR-340-5p (MIRT053008)
- mmu-miR-200c-3p (MIRT053235)
- hsa-miR-625-5p (MIRT054380)
- mmu-miR-138-5p (MIRT054462)
- mmu-miR-709 (MIRT054463)
- hsa-miR-638 (MIRT054761)
- mmu-miR-29b-3p (MIRT438879)
- hsa-miR-1181 (MIRT438929)
- hsa-miR-146a-5p (MIRT732041)
- hsa-miR-371a-5p (MIRT733145)
- hsa-miR-375 (MIRT733566)
- mmu-miR-21a-5p (MIRT734235)
- hsa-miR-450b-5p (MIRT734551)
Targeted motifs for SOX2 Gene
HOMER Transcription Factor Regulatory Elements motif SOX2
- Consensus sequence: CCCATTGTTC Submotif: canonical Cell Type: mES GEO ID: GSE11431
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOX2
- Browse OriGene Inhibitory RNA Products For SOX2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX2
Clone Products
- Applied Biological Materials (abm): Clones for SOX2 - Select products 50% OFF >
- * SOX2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SOX2
- Addgene plasmids for SOX2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX2
Cell Line Products
No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for SOX2 Gene
Localization for SOX2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SOX2 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 3 |
| extracellular | 3 |
| cytoskeleton | 3 |
| mitochondrion | 3 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | ISA | -- |
| GO:0005634 | nucleus | IC,NAS | 7849401 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | TAS | 19736317 |
| GO:0005737 | cytoplasm | IDA | 18027866 |
Pathways & Interactions for SOX2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Human Early Embryo Development |
Human Early Embryo Development
-
|
|
| 2 | Cytokine Signaling in Immune system | ||
| 3 | Transcriptional regulation of pluripotent stem cells | ||
| 4 | Signaling by Wnt |
.71
|
|
| 5 | Mesodermal Commitment Pathway | ||
Pathways by source for SOX2 Gene
8 BioSystems pathways for SOX2 Gene
12 Reactome pathways for SOX2 Gene
2 KEGG pathways for SOX2 Gene
2 R&D Systems pathways for SOX2 Gene
6 Qiagen pathways for SOX2 Gene
- Human Early Embryo Development
- Human Embryonic Stem Cell Pluripotency
- Molecular Mechanisms of Cancer
- Nanog in Mammalian ESC Pluripotency
- Oct4 in Mammalian ESC Pluripotency
1 Cell Signaling Technology pathway for SOX2 Gene
Interacting Proteins for SOX2 Gene
Selected Interacting proteins:
P48431-SOX2_HUMAN
ENSP00000323588
for SOX2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SOX2
SIGNOR curated interactions for SOX2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA,ISS | -- |
| GO:0001649 | osteoblast differentiation | IDA | 18187129 |
| GO:0001654 | eye development | IEP | 18285410 |
| GO:0001714 | endodermal cell fate specification | IDA | 21245162 |
| GO:0006325 | chromatin organization | NAS | 7849401 |
Drugs & Compounds for SOX2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
- RayBiotech Recombinant Human SOX2 protein and Recombinant Human SOX2
- Creative Biomart Recombinant Human SRY (Sex Determining Region Y)-Box 2, His-tagged
Transcripts for SOX2 Gene
mRNA/cDNA for SOX2 Gene
- 1 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000325404 2512 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SOX2 - Select products 50% OFF >
- * SOX2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SOX2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX2
-
Santa Cruz Biotechnology (SCBT) CRISPR for SOX2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOX2
- Browse OriGene Inhibitory RNA Products For SOX2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX2
Clone Products
- Applied Biological Materials (abm): Clones for SOX2 - Select products 50% OFF >
- * SOX2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SOX2
- Addgene plasmids for SOX2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX2
Relevant External Links for SOX2 Gene
- GeneLoc Exon Structure for
- SOX2
Expression for SOX2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Inner Cell Mass (Early Embryonic Tissues)
- Inner Cell Mass Cells Inner Cell Mass
- Bi.1-3
- Kyoto human embryonic stem cell 3
- VUB03_DM1
- Fibro-Epi
-
Brain (Nervous System)
- Bergmann Glia Purkinje Cell Layer
- Adult Neural Stem Cells Cortical Sub Ventricular Zone
- Neural stem cells LewisX+ CXCR4+
- Neural stem cells
-
Eye (Sensory Organs)
- Late Retinal Progenitor Cells Retinal Neuroblastic Layer
- Preplacodal Lens Ectoderm Cells Ocular Surface Ectoderm
- Early Retinal Progenitor Cells Retinal Neuroblastic Layer
- Lens Placode Cells Lens Placode
-
Hair (Integumentary System)
- Dermal Condensate Cells Dermal Papilla
- Fetal Hair Placode Cells Hair Follicle
- Guard Dermal Papilla Cells Dermal Papilla
-
Dermis (Integumentary System)
- Dermal Condensate Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
- Primitive Streak (Early Embryonic Tissues)
- Heart (Cardiovascular System)
- Mesenchymal Stem Cells (Uncategorized)
- Umbilical Cord (Extraembryonic Tissues)
-
Ectoderm (Gastrulation Derivatives)
- Intraembryonic Ectoderm Cells Ectoderm
-
Glial Cells
- Bergmann Glia Purkinje Cell Layer
-
Neural Tube (Nervous System)
- Adult Neural Stem Cells Cortical Sub Ventricular Zone
-
Epithelial Cells
- Fetal Hair Placode Cells Hair Follicle
- Spinal Cord (Nervous System)
- Epiblast (Early Embryonic Tissues)
- NULL (Nervous System)
- Neurons
- Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for SOX2 Gene
This gene is overexpressed in Brain - Amygdala (x5.1), Brain - Nucleus accumbens (basal ganglia) (x5.0), Brain - Caudate (basal ganglia) (x5.0), Brain - Putamen (basal ganglia) (x4.2), and Brain - Hippocampus (x4.0).
This gene is overexpressed in Fetal Brain (41.7) and Lung (27.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SOX2 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SOX2
SOURCE GeneReport for Unigene cluster for SOX2 Gene:
Hs.518438Evidence on tissue expression from TISSUES for SOX2 Gene
- Nervous system(4.9)
- Lung(4.7)
- Eye(4.6)
- Skin(3.2)
- Kidney(3.1)
- Muscle(3)
- Liver(2.9)
- Intestine(2.9)
- Blood(2.9)
- Heart(2.9)
- Bone marrow(2.7)
- Stomach(2.7)
- Bone(2.6)
- Pancreas(2.6)
- Thyroid gland(2.4)
- Lymph node(2.3)
- Spleen(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SOX2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- hypothalamus
- mouth
- outer ear
- pituitary gland
- skull
Thorax:
- breast
- chest wall
- esophagus
- heart
- lung
- rib
- rib cage
- trachea
Abdomen:
- stomach
Pelvis:
- ovary
- penis
- prostate
- testicle
- urethra
- urinary bladder
- uterus
- vagina
- vulva
Limb:
- digit
- finger
- foot
- hand
- lower limb
- toe
- upper limb
General:
- blood
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for SOX2
-
OriGene qPCR primer pairs and template standards for SOX2
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for SOX2 Gene
Orthologs for SOX2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SOX2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SOX2 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SOX2 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SOX2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sox2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Sox2 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SOX2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SOX2 30 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sox2 30 |
|
||
| Str.6201 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.18817 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sox2 30 31 |
|
OneToOne | |
| wufc14d07 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | SoxN 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | sox-2 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4045 30 |
|
- Species where no ortholog for SOX2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for SOX2: view image
Paralogs for SOX2 Gene
Paralogs for SOX2 Gene
(8) SIMAP similar genes for SOX2 Gene using alignment to 1 proteins:
- SOX2_HUMAN
Pseudogenes.org Pseudogenes for SOX2 Gene
Variants for SOX2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SOX2 Gene
| SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 678529 | Likely Benign: not provided | 181,712,350(+) | A/C | FIVE_PRIME_UTR_VARIANT | |
| 681395 | Likely Benign: not provided | 181,713,159(+) | G/A | MISSENSE_VARIANT | |
| 682175 | Likely Benign: not provided | 181,712,341(+) | G/T | FIVE_PRIME_UTR_VARIANT | |
| 691384 | Likely Pathogenic: Pyloric stenosis; Esophageal atresia | 181,713,058(+) | C/G | MISSENSE_VARIANT | |
| 705427 | Benign: not provided | 181,712,591(+) | C/A | SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.34;
7.45% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SOX2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SOX2 Gene
Disorders for SOX2 Gene
(74) MalaCards diseases for SOX2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| microphthalmia, syndromic 3 |
|
|
| septooptic dysplasia |
|
|
| microphthalmia |
|
|
| esophageal atresia |
|
|
| embryonal carcinoma |
|
Search SOX2 in MalaCards
View complete list of genes associated with diseases
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, ECO:0000269 PubMed:24033328}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SOX2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for SOX2 Gene
Publications for SOX2 Gene
- 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 HF … Brismar K (Gender medicine 2009) 3 23 41
- The cDNA sequence and chromosomal location of the human SOX2 gene. (PMID: 7849401) Stevanovic M … Goodfellow P (Mammalian genome : official journal of the International Mammalian Genome Society 1994) 2 3 4
- SOX2 modulates alternative splicing in transitional cell carcinoma. (PMID: 20138825) Tung CL … Li C (Biochemical and biophysical research communications 2010) 3 23
- Recurrent copy number gain of transcription factor SOX2 and corresponding high protein expression in oral squamous cell carcinoma. (PMID: 19787784) Freier K … Radlwimmer B (Genes, chromosomes & cancer 2010) 3 23
- Expression of the embryonic stem cell transcription factor SOX2 in human skin: relevance to melanocyte and merkel cell biology. (PMID: 20042675) Laga AC … Murphy GF (The American journal of pathology 2010) 3 23
ExternalLinks
Products for SOX2 Gene
- View all 23 R&D Systems SOX2 (SOX2) Products
- View all 21 R&D Systems SOX2 (SOX2) Primary Antibodies
- View all R&D Systems SOX2 (SOX2) Proteome Profiler Antibody Arrays
- View all R&D Systems SOX2 (SOX2) cDNA Clones
- Learn more about R&D Systems custom SOX2 antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for SOX2
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for SOX2
- Origene Custom Protein Services for SOX2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOX2
- Browse OriGene Inhibitory RNA Products For SOX2
- OriGene qPCR primer pairs for SOX2
- OriGene qPCR primer pairs and template standards for SOX2
- OriGene CRISPR knockouts for SOX2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SOX2
- Sino Biological Human cDNA Clone for SOX2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for SOX2
- Browse Sino Biological Assays
- Browse Antibodies
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SOX2
- Novus Biologicals proteins and lysates for SOX2
- Browse Antibodies
- Browse Peptides and Proteins
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- Abcam antibodies for SOX2
- Abcam proteins for SOX2
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- Browse Primary Antibodies
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- VectorBuilder Custom and pre-made DNA vectors for SOX2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SOX2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SOX2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SOX2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SOX2
- Addgene plasmids for SOX2
- antibodies-online: Show 122 available SOX2 Antibodies ranked by validation data
- Compare Top SOX2 Antibodies
- Recommended
- 387 WB Antibodies (anti-human)
- 31 FACS Antibodies (anti-human)
- 12 DB Antibodies (anti-human)
- 11 IF Antibodies (anti-human)
- 11 IHC (p) Antibodies (anti-human)
- 10 IF (p) Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 2 BCA Antibodies (anti-human)
- 2 IF/ICC Antibodies (anti-human)
- 1 IP Antibody (anti-human)
- 84 WB Antibodies (anti-rat)
- 10 IF (p) Antibodies (anti-rat)
- 7 FACS Antibodies (anti-rat)
- 1 IF/ICC Antibody (anti-rat)
- 1 IHC Antibody (anti-rat)
- 143 WB Antibodies (anti-mouse)
- 25 FACS Antibodies (anti-mouse)
- 10 IF (p) Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 1 IF/ICC Antibody (anti-mouse)
- antibodies-online: Show 42 available SOX2 Elisa Kits ranked by validation data
- Compare Top SOX2 Elisa Kits
- Quality Products:
- ABIN5526732
- ABIN823864
- ABIN1117083
- ABIN5523597
- ABIN5593928
- ABIN511607
- ABIN4991326
- ABIN2951959
- ABIN6220811
- ABIN5069714
- ABIN823865
- ABIN773772
- ABIN1162455
- ABIN1117084
- ABIN416513
- ABIN1572490
- ABIN5523598
- ABIN772436
- ABIN5658767
- ABIN2538951
- ABIN6220825
- ABIN2951380
- ABIN5070736
- ABIN777658
- ABIN1566671
- ABIN6220807
- antibodies-online: Show 28 available SOX2 Proteins ranked by validation data
- Compare Top SOX2 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for SOX2
- Search Santa Cruz Biotechnology (SCBT) for SOX2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SOX2
- Custom Antibody ServicesProSci Antibodies for SOX2
- ProSci Proteins for SOX2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SOX2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX2
Sources for SOX2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB