Gene: Sox2

Basic information

Tag Content
Uniprot ID P48432
Entrez ID 20674
Genbank protein ID CAA63847.1; AAC31791.1;
Genbank nucleotide ID NM_011443.4
Ensembl protein ID
Ensembl nucleotide ID
Gene name Transcription factor SOX-2
Gene symbol Sox2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E13.5, E14.75, E14.5, E16.5, E17.5, P6, P5, P21
Data sources Manually collected
Reference 23638914
Functional description Transcription factor that forms a trimeric complex with POU5F1 (OCT3/4) on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (PubMed:15863505, PubMed:17097055, PubMed:19740739). Binds to the proximal enhancer region of NANOG (PubMed:15863505). Critical for early embryogenesis and for embryonic stem cell pluripotency (By similarity). Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (PubMed:22198669). 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).
Sequence
MYNMMETELK PPGPQQASGG GGGGGNATAA ATGGNQKNSP DRVKRPMNAF MVWSRGQRRK 60
MAQENPKMHN SEISKRLGAE WKLLSETEKR PFIDEAKRLR ALHMKEHPDY KYRPRRKTKT 120
LMKKDKYTLP GGLLAPGGNS MASGVGVGAG LGGGLNQRMD SYAHMNGWSN GSYSMMQEQL 180
GYPQHPGLNA HGAAQMQPMH RYVVSALQYN SMTSSQTYMN GSPTYSMSYS QQGTPGMALG 240
SMGSVVKSEA SSSPPVVTSS SHSRAPCQAG DLRDMISMYL PGAEVPEPAA PSRLHMAQHY 300
QSGPVPGTAK YGTLPLSHM 319

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000976 transcription regulatory region sequence-specific DNA bindingISO
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA bindingIDA
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA bindingIGI
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIBA
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIDA
GO:0003677 DNA bindingISO
GO:0003677 DNA bindingIDA
GO:0003682 chromatin bindingIDA
GO:0003700 DNA-binding transcription factor activityISO
GO:0003700 DNA-binding transcription factor activityIDA
GO:0005515 protein bindingIPI
GO:0008134 transcription factor bindingIPI
GO:0031490 chromatin DNA bindingIDA
GO:0035198 miRNA bindingISO
GO:0043565 sequence-specific DNA bindingIDA
GO:0043565 sequence-specific DNA bindingISO
GO:0044212 transcription regulatory region DNA bindingISO
GO:0044212 transcription regulatory region DNA bindingIDA
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificISO

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIBA
GO:0000122 negative regulation of transcription by RNA polymerase IIIGI
GO:0001649 osteoblast differentiationISO
GO:0001708 cell fate specificationIMP
GO:0001714 endodermal cell fate specificationISO
GO:0002052 positive regulation of neuroblast proliferationIMP
GO:0006355 regulation of transcription, DNA-templatedISO
GO:0006355 regulation of transcription, DNA-templatedIDA
GO:0006355 regulation of transcription, DNA-templatedIBA
GO:0006357 regulation of transcription by RNA polymerase IIIDA
GO:0007050 cell cycle arrestISO
GO:0007605 sensory perception of soundIMP
GO:0009653 anatomical structure morphogenesisIBA
GO:0010033 response to organic substanceIDA
GO:0010468 regulation of gene expressionISO
GO:0019827 stem cell population maintenanceIMP
GO:0021879 forebrain neuron differentiationIMP
GO:0021984 adenohypophysis developmentIMP
GO:0021987 cerebral cortex developmentIMP
GO:0022409 positive regulation of cell-cell adhesionISO
GO:0030154 cell differentiationIBA
GO:0030178 negative regulation of Wnt signaling pathwayIGI
GO:0030539 male genitalia developmentIMP
GO:0030858 positive regulation of epithelial cell differentiationIDA
GO:0030900 forebrain developmentIBA
GO:0030910 olfactory placode formationIGI
GO:0032526 response to retinoic acidIDA
GO:0035019 somatic stem cell population maintenanceISO
GO:0042472 inner ear morphogenesisIMP
GO:0043281 regulation of cysteine-type endopeptidase activity involved in apoptotic processISO
GO:0043410 positive regulation of MAPK cascadeISO
GO:0043586 tongue developmentIMP
GO:0045165 cell fate commitmentIDA
GO:0045165 cell fate commitmentIBA
GO:0045596 negative regulation of cell differentiationIMP
GO:0045597 positive regulation of cell differentiationISO
GO:0045665 negative regulation of neuron differentiationIDA
GO:0045666 positive regulation of neuron differentiationIMP
GO:0045668 negative regulation of osteoblast differentiationIDA
GO:0045747 positive regulation of Notch signaling pathwayIDA
GO:0045893 positive regulation of transcription, DNA-templatedISO
GO:0045944 positive regulation of transcription by RNA polymerase IIISO
GO:0045944 positive regulation of transcription by RNA polymerase IIIGI
GO:0045944 positive regulation of transcription by RNA polymerase IIIMP
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIBA
GO:0046148 pigment biosynthetic processIMP
GO:0048286 lung alveolus developmentIDA
GO:0048568 embryonic organ developmentIMP
GO:0048646 anatomical structure formation involved in morphogenesisIMP
GO:0048663 neuron fate commitmentIMP
GO:0048839 inner ear developmentIBA
GO:0048852 diencephalon morphogenesisIMP
GO:0048863 stem cell differentiationIDA
GO:0050680 negative regulation of epithelial cell proliferationISO
GO:0050767 regulation of neurogenesisIGI
GO:0050910 detection of mechanical stimulus involved in sensory perception of soundIMP
GO:0050973 detection of mechanical stimulus involved in equilibrioceptionIMP
GO:0060042 retina morphogenesis in camera-type eyeIMP
GO:0060235 lens induction in camera-type eyeIGI
GO:0060441 epithelial tube branching involved in lung morphogenesisIDA
GO:0070848 response to growth factorISO
GO:0090090 negative regulation of canonical Wnt signaling pathwayISO
GO:0090090 negative regulation of canonical Wnt signaling pathwayIDA
GO:0097150 neuronal stem cell population maintenanceIGI

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISO
GO:0005634 nucleusIDA
GO:0005634 nucleusIC
GO:0005634 nucleusIBA
GO:0005654 nucleoplasmISO
GO:0005654 nucleoplasmTAS
GO:0005667 transcription factor complexIDA
GO:0005737 cytoplasmISO
GO:0005737 cytoplasmIDA
GO:0005829 cytosolISO
GO:0044798 nuclear transcription factor complexIBA
GO:0044798 nuclear transcription factor complexIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-162582 Signal TransductionIEA
R-MMU-195721 Signaling by WNTIEA
R-MMU-201681 TCF dependent signaling in response to WNTIEA
R-MMU-3769402 Deactivation of the beta-catenin transactivating complexIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0010 Activator
KW-0217 Developmental protein
KW-0238 DNA-binding
KW-1017 Isopeptide bond
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR032643 SOX-2
IPR022097 SOX_fam

PROSITE

PROSITE ID PROSITE Term
PS50118 HMG_BOX_2

Pfam

Pfam ID Pfam Term
PF00505 HMG_box
PF12336 SOXp

Protein-protein interaction

Protein-miRNA interaction