Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
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.
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
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.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IDA 18407919
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
184429 11195 ENSG00000181449
Protein
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
QENPKMHNSEISKRLGAEWKLLSETEKRPFIDEAKRLRALHMKEHPDYK
YRPRRKTKTLM
KKDKYTLPGGLLAPGGNSMASGVGVGAGLGAGVNQRMDSYAHMNGWSNGSYSMMQDQLGY
PQHPGLNAHGAAQMQPMHRY
DVSALQYNSMTSSQTYMNGSPTYSMSYSQQGTPGMALGSM
GSVVKSEASSSPPVVTSSSHSRAPCQAGDLRDMISMYLPGAEVPEPAAPSRLHMSQHYQS
GPVPGTAINGTLPLSHM
Sequence length 317
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Anophthalmia/microphthalmia-esophageal atresia syndrome Anophthalmia/microphthalmia-esophageal atresia syndrome rs104893799, rs104893800, rs104893801, rs104893802, rs104893803, rs104893804, rs104893805, rs104893806, rs587776776, rs398122803, rs387906688, rs397514463, rs398122915, rs398122916, rs398123693
View all (22 more)
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Carcinoma Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 19801978
Unknown
Disease term Disease name Evidence References Source
Brain neoplasms Brain Neoplasms, Malignant neoplasm of brain, Benign neoplasm of brain, unspecified, Brain Tumor, Primary, Recurrent Brain Neoplasm, Primary malignant neoplasm of brain 27935819 ClinVar
Specific learning disorder Specific learning disability ClinVar
Isolated Microphthalmia-Anophthalmia-Coloboma isolated anophthalmia-microphthalmia syndrome GenCC
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
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