CleftGeneDB-Search

Gene: Sox11

Basic information

Tag	Content
Uniprot ID	Q7M6Y2; O35178; O89036; Q04889; Q80XF0;
Entrez ID	20666
Genbank protein ID	CAA79485.1; BAE38341.1; AAH62095.1; DAA01568.1; BAE27226.1; AAB82425.1; BAC75670.1;
Genbank nucleotide ID	NM_009234.6
Ensembl protein ID	ENSMUSP00000078070
Ensembl nucleotide ID	ENSMUSG00000063632
Gene name	Transcription factor SOX-11
Gene symbol	Sox11
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO,CLP
Developmental stage	E14.5
Data sources	Manually collected
Reference	26826126; 15254231;
Functional description	Transcription factor that acts as a transcriptional activator (PubMed:18505825, PubMed:18403418). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation (PubMed:18505825, PubMed:18403418). Acts as a transcriptional activator of TEAD2 by binding to its gene promoter and first intron (PubMed:20596238). Plays a redundant role with SOX4 and SOX12 in cell survival of developing tissues such as the neural tube, branchial arches and somites, thereby contributing to organogenesis (PubMed:20596238).
Sequence	MVQQAESSEA ESNLPRDALD TEEGEFMACS PVALDESDPD WCKTASGHIK RPMNAFMVWS 60 KIERRKIMEQ SPDMHNAEIS KRLGKRWKML KDSEKIPFIR EAERLRLKHM ADYPDYKYRP 120 RKKPKTDPAA KPSAGQSPDK SAAGAKAAKG PGKKCAKLKA PAGKAGAGKA AQPGDCAAGK 180 AAKCVFLDDD DEDDDEDDEL QLRPKPDADD DDDEPAHSHL LPPPTQQQPP QLLRRYSVAK 240 VPASPTLSSA AESPEGASLY DEVRAGGRLY YSFKNITKQQ PPPAPPALSP ASSRCVSTSS 300 SSGSSSGSGA EDADDLMFDL SLNFSQGAHS ACEQPLGAGA AGNLSLSLVD KDLDSFSEGS 360 LGSHFEFPDY CTPELSEMIA GDWLEANFSD LVFTY 395

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)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	SOX11		A0A452FZZ0			Capra hircus	Prediction	More>>
1:1 ortholog	SOX11	6664	P35716			Homo sapiens	Prediction	More>>
1:1 ortholog	Sox11	20666	Q7M6Y2	CPO,CLP	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	SOX11	100608531	A0A2I3TNT6			Pan troglodytes	Prediction	More>>
1:1 ortholog	SOX11	100514639	F1S9L1			Sus scrofa	Prediction	More>>
1:1 ortholog	Sox11	84046	P0C1G9			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs8255798	p.Ala177Gly	missense variant	-	NC_000078.6:g.27341879G>C	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISO
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISO
GO:0000987	cis-regulatory region sequence-specific DNA binding	ISO
GO:0000987	cis-regulatory region sequence-specific DNA binding	IDA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISO
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA
GO:0003700	DNA-binding transcription factor activity	ISO
GO:0003700	DNA-binding transcription factor activity	IDA
GO:0003713	transcription coactivator activity	ISO
GO:0003713	transcription coactivator activity	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	ISO
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA
GO:0001501	skeletal system development	IMP
GO:0001822	kidney development	IEA
GO:0001841	neural tube formation	IMP
GO:0002089	lens morphogenesis in camera-type eye	IMP
GO:0003151	outflow tract morphogenesis	IMP
GO:0003211	cardiac ventricle formation	IMP
GO:0003357	noradrenergic neuron differentiation	ISO
GO:0003357	noradrenergic neuron differentiation	IMP
GO:0006355	regulation of transcription, DNA-templated	IBA
GO:0008284	positive regulation of cell population proliferation	IMP
GO:0009653	anatomical structure morphogenesis	IBA
GO:0010628	positive regulation of gene expression	ISO
GO:0010628	positive regulation of gene expression	IMP
GO:0010629	negative regulation of gene expression	ISO
GO:0010629	negative regulation of gene expression	IMP
GO:0014003	oligodendrocyte development	IEA
GO:0014009	glial cell proliferation	IMP
GO:0014032	neural crest cell development	IMP
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0021510	spinal cord development	IMP
GO:0021782	glial cell development	IMP
GO:0030154	cell differentiation	IBA
GO:0030182	neuron differentiation	IBA
GO:0030513	positive regulation of BMP signaling pathway	IMP
GO:0035332	positive regulation of hippo signaling	IMP
GO:0035914	skeletal muscle cell differentiation	IMP
GO:0045666	positive regulation of neuron differentiation	ISO
GO:0045666	positive regulation of neuron differentiation	IDA
GO:0045666	positive regulation of neuron differentiation	IMP
GO:0045669	positive regulation of osteoblast differentiation	ISS
GO:0045669	positive regulation of osteoblast differentiation	ISO
GO:0045778	positive regulation of ossification	ISO
GO:0045778	positive regulation of ossification	IMP
GO:0045893	positive regulation of transcription, DNA-templated	IMP
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	ISO
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA
GO:0046887	positive regulation of hormone secretion	IMP
GO:0048485	sympathetic nervous system development	IMP
GO:0048557	embryonic digestive tract morphogenesis	IMP
GO:0048704	embryonic skeletal system morphogenesis	IMP
GO:0050672	negative regulation of lymphocyte proliferation	ISO
GO:0050769	positive regulation of neurogenesis	IDA
GO:0060022	hard palate development	IMP
GO:0060023	soft palate development	IMP
GO:0060174	limb bud formation	IMP
GO:0060253	negative regulation of glial cell proliferation	ISO
GO:0060253	negative regulation of glial cell proliferation	IMP
GO:0060412	ventricular septum morphogenesis	IMP
GO:0060425	lung morphogenesis	IMP
GO:0060548	negative regulation of cell death	IMP
GO:0060563	neuroepithelial cell differentiation	IMP
GO:0061029	eyelid development in camera-type eye	IMP
GO:0061053	somite development	IMP
GO:0061303	cornea development in camera-type eye	IMP
GO:0061386	closure of optic fissure	IMP
GO:0072395	signal transduction involved in cell cycle checkpoint	IEA
GO:2000648	positive regulation of stem cell proliferation	ISS
GO:2000648	positive regulation of stem cell proliferation	ISO
GO:2000678	negative regulation of transcription regulatory region DNA binding	ISS
GO:2000678	negative regulation of transcription regulatory region DNA binding	ISO
GO:2001111	positive regulation of lens epithelial cell proliferation	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	ISO
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	ISO
GO:0005737	cytoplasm	ISS
GO:0005737	cytoplasm	ISO
GO:0044798	nuclear transcription factor complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0010	Activator
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0238	DNA-binding
KW-0524	Neurogenesis
KW-0539	Nucleus
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR009071	HMG_box_dom
IPR036910	HMG_box_dom_sf
IPR029551	SOX-11
IPR017386	SOX-11/4

PROSITE

PROSITE ID	PROSITE Term
PS50118	HMG_BOX_2

Pfam

Pfam ID	Pfam Term
PF00505	HMG_box

Gene: Sox11

Basic information

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)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction