SOX2 (SRY-box transcription factor 2)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6657
Gene name Gene Name - the full gene name approved by the HGNC.
SRY-box transcription factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SOX2
Synonyms (NCBI Gene) Gene synonyms aliases
ANOP3, MCOPS3
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.33
Summary Summary of gene provided in NCBI Entrez 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 maintenanc
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(77)
miRTarBase ID miRNA Experiments Reference
MIRT005370 hsa-miR-126-3p Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21304604
MIRT005370 hsa-miR-126-3p Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21304604
MIRT005692 hsa-miR-522-3p Luciferase reporter assay, Western blot 21304604
MIRT000307 hsa-miR-145-5p FACS, Flow, GFP reporter assay, In situ hybridization, Luciferase reporter assay, qRT-PCR 19409607
MIRT000307 hsa-miR-145-5p FACS, Flow, GFP reporter assay, In situ hybridization, Luciferase reporter assay, qRT-PCR 19409607
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
ID4 Unknown 23613880
KDM2A Unknown 23872478
POU5F1 Activation 17068183
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(68)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 18407919
GO:0000976 Function Transcription cis-regulatory region binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
184429 11195 ENSG00000181449
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P48431
Protein name Transcription factor SOX-2
Protein 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
PDB 1O4X , 2LE4 , 6T7B , 6T90 , 6WX7 , 6WX8 , 6WX9 , 6YOV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00505 HMG_box 41 → 109 HMG (high mobility group) box Domain
PF12336 SOXp 110 → 200 SOX transcription factor Family
Sequence 
MYNMMETELKPPGPQQTSGGGGGNSTAAAAGGNQKNSPDRVKRPMNAFMVWSRGQRRKMA
QENPKMHNSEISKRLGAEWKLLSETEKRPFIDEAKRLRALHMKEHPDYKYRPRRKTKTLM
KKDKYTLPGGLLAPGGNSMASGVGVGAGLGAGVNQRMDSYAHMNGWSNGSYSMMQDQLGY
PQHPGLNAHGAAQMQPMHRYDVSALQYNSMTSSQTYMNGSPTYSMSYSQQGTPGMALGSM
GSVVKSEASSSPPVVTSSSHSRAPCQAGDLRDMISMYLPGAEVPEPAAPSRLHMSQHYQS
GPVPGTAINGTLPLSHM
Sequence length 317
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells 		  POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
Deactivation of the beta-catenin transactivating complex
Transcriptional regulation of pluripotent stem cells
Interleukin-4 and Interleukin-13 signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome anophthalmia/microphthalmia-esophageal atresia syndrome rs104893799, rs398122915, rs1560264452, rs104893800, rs398122916, rs1714833474, rs104893801, rs398123693, rs750091101, rs104893802, rs55683010, rs104893803, rs1553862958, rs104893804, rs1553862971
View all (10 more)		 N/A
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anorexia Anorexia nervosa N/A N/A GWAS
Dental caries Dental caries N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Isolated Microphthalmia-Anophthalmia-Coloboma isolated anophthalmia-microphthalmia syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (303)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
46 XX Testicular Disorders of Sex Development Associate 29371155
Abnormalities Drug Induced Associate 21326281
Acidosis Stimulate 30466459
Acidosis Associate 32900990
Adenocarcinoma Associate 22748473, 24299561, 28692180, 32930122, 35476812, 40198732
Adenocarcinoma of Lung Associate 20631605, 21623236, 22529186, 27496649, 28259951, 29596469, 31059077, 32170113, 36810856
Adenoma Associate 30587606
Adenomyosis Associate 39595532
Adrenoleukodystrophy Associate 29065337
Agenesis of Corpus Callosum Associate 18285410