InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SOX2

Summary

InnateDB Protein

IDBP-66694.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SOX2

Protein Name

SRY (sex determining region Y)-box 2

Synonyms

ANOP3; MCOPS3;

Species

Homo sapiens

Ensembl Protein

ENSP00000323588

InnateDB Gene

IDBG-66692 (SOX2)

Protein Structure

UniProt Annotation

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). {ECO:0000250}.

Subcellular Localization

Nucleus.

Disease Associations

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:0000269PubMed:12612584}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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