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FLASH GENE

Symbol

CLDN5

contributors: mct/npt/pgu - updated : 13-06-2013

HGNC name	claudin 5 (transmembrane protein deleted in velocardiofacial syndrome)
HGNC id	2047

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	22q11.21      Physical location : 19.510.546 - 19.512.860
Synonym name	clostridium perfringens enterotoxin receptor-like,transmembrane protein
	transmembrane protein deleted in VCFS
	claudin 5
	androgen withdrawal and apoptosis induced protein RVP1 (rat)-like
Synonym symbol(s)	TMVCF, AWAL1, BEC1, CPETRL1, AWAL

DNA

TYPE	functioning gene
STRUCTURE	2.31 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D22S1613 - D22S1643 - D22S1619 - D22S1664 - D22S1618 - D22S1668 /CLDN5 - D22S945 - D22S1644 - D22S944 - D22S943 - D22S1637 - qter
Authors	(PMID: 9192844)
Text	see DGCR6

regionally located

DiGeorge region

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 1 - 2332 isoform 1 - 303 - 2008 18604199 variant 2 2 - 1730 isoform 2 23 218 - 2008 18604199

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 vessels capillary     highly Nervous brain       highly   nerve       highly Reproductive male system prostate     highly Respiratory lung       highly Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining endothelium     Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	retinal pigment epithelium in development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

transmembrane protein four putative transmembrane segments

HOMOLOGY

interspecies

homolog to rattus ventral prostate protein

Homologene

FAMILY

claudin family

CATEGORY

adhesion , structural protein

SUBCELLULAR LOCALIZATION

plasma membrane,junction,tight

basic FUNCTION	major endothelial cell specific components of tight junction (TJ) strands regulating MMP14 during angiogenesis
	tight junction specific obliteration of the intercelular space
	creating charge specific channels in the paracellular space
	classified as a tight-junctional protein capable of contributing to the "sealing" of the tight junction
	increasing the airway tight junctional permeability (C
	may participate in novel mechanisms in the pathway to end-stage heart failure
	key determinant of trans-endothelial resistance at the blood-brain barrier
	CDH5, NECTIN2, and CLDN5 are involved in the regulation of vascular permeability in a mutually interacting manner, which indicates their prominent role for the functionality of the human corpus luteum

CELLULAR PROCESS	nucleotide, transcription
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

text	angiogenesis

PATHWAY

metabolism

signaling

a component	major structural components of tight junction (TJ) strands
	component of tight junctions in endothelial cell layers

INTERACTION

DNA

RNA

small molecule

protein	promoting activation of promatrix metalloproteinase-2 mediated by membrane type matrix metalloproteinases
	regulating MMP14 and promoting angiogenesis
	interacting with SOX18 (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)
	CLDN5 is a downstream target of ERG in endothelial cells (EC)
	GNAI2 interacts with CLDN5 and association is correlated with TJ (tight junctions) integrity in brain endothelial cell line
	KLF4 regulates blood-tumor barrier permeability via TJP1, OCLN and CLDN5

cell & other

REGULATION

activated by

endothelial VE-cadherin (CDH5) at adherens junctions

inhibited by

VEGFA (that constitutes a significant mechanism in blood-brain barrier breakdown)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     to velocardiofacial syndrome constitutional     --low   in end-stage cardiomyopathy

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS