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FLASH GENE

Symbol

SOX18

contributors: mct - updated : 21-03-2015

HGNC name	SRY (sex determining region Y)-box 18
HGNC id	11194

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HLTS hypotrichosis-lymphedema-telangiectasia syndrome
Location	20q13.33      Physical location : 62.679.080 - 62.680.979
Synonym name	transcription factor SOX-18
Synonym symbol(s)	SX18, HLTS

DNA

TYPE	functioning gene
STRUCTURE	1.90 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018419 2 - 1718 NP_060889 - 384 - 2007 17603017

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart ventricle     predominantly Digestive intestine small intestine jejunum       liver           stomach       highly Lymphoid/Immune spleen         Nervous nerve cranial nerve     highly Reproductive female system placenta     highly   female system ovary     highly Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal high-mobility group DNA binding and a central transactivation domain
	a 9AA transactivation motif that mediates the interaction with the transcriptional cofactor TAF9 and with general co-factors
	a C-terminal region of unknown function with three blocks that are highly conserved within a subgroup of the Sox family, and the central so-called charged block comprises an additional strong transactivating domain.

HOMOLOGY

interspecies	homolog to murine Sox18
	homolog to C.elegans k08a8.2

Homologene

FAMILY

SRY-related HMG box family of transcription factors

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	involved in the transactivation of transcription
	involved in vascular cell growth and this transcription factor may play a role in atherosclerosis
	involved in the development or function of blood vessels, the lymphatic system and hair follicles (Downes 2009)
	critical role for SOX18 in the maturation rather than the early modeling of the blood vasculature (Downes 2009)
	acts as a transcriptional activator of genes required for vascular structural integrity and the recruitment of pericytes to developing blood vessels (Downes 2009)
	plays a role in angiogenesis, including lymphangiogenesis, where it is upregulated by growth factors and directs the expression of genes encoding, e.g., guidance molecules and a matrix metalloproteinase
	FIGF -mitogen-activated protein kinase kinase-extracellular signal-regulated kinase signaling modulates SOX18-mediated transcription, functioning at least in part by enhancing nuclear concentration and transcriptional activity in vascular endothelial cells

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding to the 5'-AACAAAG-3' consensus sequence

RNA

small molecule

protein	interacting with CLDN5 (SOX18 involved in the regulation of CLDN5 gene expression in an endothelial-specific and cell density-dependent manner, play a nonredundant role in the formation of the endothelial barrier) (Fontijn 2008)
	SOX18 is a novel target gene regulated by EGR1 transcription factor, thus providing the first functional link between two transcription factors previously shown to be involved in the control of angiogenesis
	MMP7 is a direct SOX18 target gene as well as other potential candidates including guidance molecules
	TNF-induced down-regulation of SOX18 in endothelial cells is dependent on NFKB

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HLTS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Sox18/Vegfd double but not single knockout mice displayed dramatic vascular development defects