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FLASH GENE

Symbol

CD248

contributors: mct/npt - updated : 22-04-2010

HGNC name	CD248 molecule, endosialin
HGNC id	18219

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	11q13.2      Physical location : 66.081.957 - 66.084.515
Synonym name	tumor endothelial marker 1 precursor
	endosialin
	CD248 antigen, endosialin
	CD164 sialomucin-like 1
	CD248 antigen
Synonym symbol(s)	FB5, TEM1, CD164L1, MGC119478, MGC119479

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	2.58 kb     1 Exon(s)

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_020404 1 - 2576 NP_065137 - 757 - Bagley (2008)

EXPRESSION

Type	restricted

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 Digestive intestine large intestine colon   moderately Reproductive female system uterus cervix   highly   female system placenta     highly   male system prostate     moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell

cell lineage
cell lines	metastatic cell lines and neoplastic endothelial cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a signal peptide
	one SUSHI/scr/ccp domain
	calcium binding EGF-like domain
	five globular extracellular domains including the C type lectin domain
	three EGF repeats
	one mucin-like region

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

CATEGORY

receptor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm

basic FUNCTION	cell surface glycoprotein playing an important role in tumor progression
	may have complementary functions with thrombomodulin in tumor progression
	role in controlling the interaction among tumor cells, endothelia, and stromal matrix (2007)
	highly O-glycosylated transmembrane glycoprotein, which is specifically expressed by tumor vessel-associated pericytes and stromal fibroblasts of a wide range of human tumors (Becker 2008)
	involved in the earlier stages of tumor angiogenesis (Bagley 2008)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

LGALS3BP specific interaction partner (Becker 2008)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in colorectal cancer tumoral     --over   in highly invasive glioblastoma multiforme, anaplastic astrocytomas, and metastatic carcinomas constitutional         silencing in fibroblasts strongly inhibited migration and proliferation (Christian 2008) tumoral     --over   observed in many cancers of various tissue origin, including colon, breast, pancreatic, and lung (Tomkowicz 2007) tumoral         led to an increase in small immature blood vessels and decreased numbers of medium and large tumor vessels (Tomkowicz 2007) tumoral     --over   in primary and metastatic human brain tumors, where it localized primarily to the tumor vasculature and a subset of tumor stromal cells (Carson-Walter 2009)

Susceptibility

Variant & Polymorphism

Candidate gene	marker of tumor-associated myofibroblasts and tumor vessel-associated mural cells (Christian 2008)
Marker
Therapy target	cellular localization of TEM1/endosialin and its expression profile in primary and metastatic brain tumors support efforts to therapeutically target this protein, potentially via antibody mediated drug delivery strategies (Carson-Walter 2009)

ANIMAL & CELL MODELS