InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SOX18

Summary

InnateDB Protein

IDBP-87694.4

Last Modified

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

Gene Symbol

SOX18

Protein Name

SRY (sex determining region Y)-box 18

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000341815

InnateDB Gene

IDBG-87692 (SOX18)

Protein Structure

UniProt Annotation

Function

Binds to the consensus sequence 5'-AACAAAG-3' and is able to trans-activate transcription via this site. {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00267}.

Disease Associations

Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]: A syndrome characterized by absent eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies. {ECO:0000269PubMed:12740761}. 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 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	4 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal 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:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein 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:0001525	angiogenesis
GO:0001568	blood vessel development
GO:0001570	vasculogenesis
GO:0001701	in utero embryonic development
GO:0001942	hair follicle development
GO:0001944	vasculature development
GO:0001945	lymph vessel development
GO:0001946	lymphangiogenesis
GO:0001947	heart looping
GO:0003151	outflow tract morphogenesis
GO:0006355	regulation of transcription, DNA-templated
GO:0007507	heart development
GO:0022405	hair cycle process
GO:0035050	embryonic heart tube development
GO:0042789	mRNA transcription from RNA polymerase II promoter
GO:0043534	blood vessel endothelial cell migration
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048469	cell maturation
GO:0048866	stem cell fate specification
GO:0060214	endocardium formation
GO:0060836	lymphatic endothelial cell differentiation
GO:0060956	endocardial cell differentiation
GO:0061028	establishment of endothelial barrier
GO:0072091	regulation of stem cell proliferation