InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SOX18

Summary

InnateDB Gene

IDBG-87692.5

Last Modified

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

Gene Symbol

SOX18

Gene Name

SRY (sex determining region Y)-box 18

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000203883

Encoded Proteins

IDBP-87694

SRY (sex determining region Y)-box 18

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 20:64047582-64049641

Strand

Reverse strand

Band

q13.33

Transcripts

ENST00000340356

ENSP00000341815

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

Cellular Component

GO:0000790	nuclear chromatin
GO:0005634	nucleus
GO:0044798	nuclear transcription factor complex

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000046470

View Gene Order

ENSBTAG00000011662

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.8619

RefSeq

NM_018419

HUGO

OMIM

CCDS

CCDS13552

HPRD

07208

IMGT

EMBL

GenPept

RNA Seq Atlas