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FLASH GENE

Symbol

CLDN19

contributors: mct/npt - updated : 16-01-2012

HGNC name	claudin 19
HGNC id	2040

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HHRO hypomagnesemia, renal failure, and severe ocular abnormalities
Location	1p34.2      Physical location : 43.198.763 - 43.205.925

DNA

TYPE	functioning gene
STRUCTURE	7.16 kb     5 Exon(s)

Genomic sequence alignment details
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_148960 5 - 2859 NP_683763 23 224 - Lee (2006) NM_001123395 4 - 3602 NP_001116867 22 211 - Lee (2006)

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 Nervous nerve cranial nerve       Urinary kidney tubule Henles loop HL ascending limb highly Homo sapiens Visual eye retina

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

four transmembrane segments

HOMOLOGY

Homologene

FAMILY

claudin family

CATEGORY

adhesion , structural protein

SUBCELLULAR LOCALIZATION

plasma membrane,junction,tight

basic FUNCTION	plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity
	creating charge specific channels in the paracellular space
	claudin isoform that is highly and specifically expressed in renal tubules with a putative role in tight junction homeostasis in renal physiology
	tight junction integral membrane protein and key regulator of the paracellular pathway (Hou 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	major structural components of tight junction (TJ) strands
	heteromeric CLDN16 and CLDN19 interaction required for assembling them into the tight junction structure and generating cation-selective paracellular channels (Hou 2009)

INTERACTION

DNA

RNA

small molecule

protein

interacts with CLDN16 and their association confers a tight junctions with cation selectivity, suggesting a mechanism for the role of mutant forms of CLDN16 and CLDN19 in the development of familial hypomagnesemia with hypercalciuria and nephrocalcinosis (Hou 2008)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HHRO

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   and dyslocalization in polycystic kidneys

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS