Homo sapiens Gene: SOX2
Summary
InnateDB Gene IDBG-66692.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SOX2
Gene Name SRY (sex determining region Y)-box 2
Synonyms ANOP3; MCOPS3;
Species Homo sapiens
Ensembl Gene ENSG00000181449
Encoded Proteins
SRY (sex determining region Y)-box 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:181711924-181714436
Strand Forward strand
Band q26.33
Transcripts
ENST00000325404 ENSP00000323588
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 342 experimentally validated interaction(s) in this database.
They are also associated with 35 interaction(s) predicted by orthology.
Experimentally validated
Total 342 [view]
Protein-Protein 336 [view]
Protein-DNA 6 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 35 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000976 transcription regulatory region sequence-specific DNA binding
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
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0035198 miRNA binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046982 protein heterodimerization activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001649 osteoblast differentiation
GO:0001654 eye development
GO:0001708 cell fate specification
GO:0001714 endodermal cell fate specification
GO:0002052 positive regulation of neuroblast proliferation
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007050 cell cycle arrest
GO:0007605 sensory perception of sound
GO:0009611 response to wounding
GO:0010033 response to organic substance
GO:0010468 regulation of gene expression
GO:0019827 stem cell maintenance
GO:0021781 glial cell fate commitment
GO:0021879 forebrain neuron differentiation
GO:0021983 pituitary gland development
GO:0021984 adenohypophysis development
GO:0021987 cerebral cortex development
GO:0022409 positive regulation of cell-cell adhesion
GO:0030178 negative regulation of Wnt signaling pathway
GO:0030539 male genitalia development
GO:0030858 positive regulation of epithelial cell differentiation
GO:0030900 forebrain development
GO:0030910 olfactory placode formation
GO:0032526 response to retinoic acid
GO:0035019 somatic stem cell maintenance
GO:0042246 tissue regeneration
GO:0042472 inner ear morphogenesis
GO:0043281 regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043410 positive regulation of MAPK cascade
GO:0043586 tongue development
GO:0045165 cell fate commitment
GO:0045596 negative regulation of cell differentiation
GO:0045597 positive regulation of cell differentiation
GO:0045665 negative regulation of neuron differentiation
GO:0045666 positive regulation of neuron differentiation
GO:0045668 negative regulation of osteoblast differentiation
GO:0045747 positive regulation of Notch signaling pathway
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046148 pigment biosynthetic process
GO:0048286 lung alveolus development
GO:0048568 embryonic organ development
GO:0048646 anatomical structure formation involved in morphogenesis
GO:0048663 neuron fate commitment
GO:0048839 inner ear development
GO:0048852 diencephalon morphogenesis
GO:0048863 stem cell differentiation
GO:0050680 negative regulation of epithelial cell proliferation
GO:0050767 regulation of neurogenesis
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound
GO:0050973 detection of mechanical stimulus involved in equilibrioception
GO:0060042 retina morphogenesis in camera-type eye
GO:0060235 lens induction in camera-type eye
GO:0060441 epithelial tube branching involved in lung morphogenesis
GO:0070848 response to growth factor
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0097150 neuronal stem cell maintenance
Cellular Component
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0044798 nuclear transcription factor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Developmental Biology pathway
Transcriptional regulation of pluripotent stem cells pathway
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation pathway
POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P48431
TrEMBL
UniProt Splice Variant
Entrez Gene 6657
UniGene Hs.518438 Hs.642211
RefSeq NM_003106
HUGO HGNC:11195
OMIM 184429
CCDS CCDS3239
HPRD
IMGT
EMBL BC013923 L07335 Z31560
GenPept AAA35997 AAH13923 CAA83435
RNA Seq Atlas 6657