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FLASH GENE

Symbol

CLDN14

contributors: npt/mct - updated : 16-01-2010

HGNC name	claudin 14
HGNC id	2035

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DFNB29 neurosensory deafness 29
Location	21q22.13      Physical location : 37.832.919 - 37.948.867
Synonym name	clostridium perfringens enterotoxin receptor-like
Synonym symbol(s)	DFNB29

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	19.47 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D21S1445 - D21S1920 - D21S2074 - D21S1895 - D21S1921 - D21S2075 - D21S2076 - [D21S2017 - D21S2078 - D21S1252 - CLDN14 - D21S2079 - D21S2080 ] - D21S2081 - D21S167 - D21S267 - qter
Authors	Wilcox (01)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_144492 3 splicing 1958 NP_652763 25.7 239 - Wilcox, Wattenhofer, Van Itallie (2005) variant 1 or alpha exons 2 and 3 NM_001146079 - splicing 1768 NP_001139551 - 239 - Wattenhofer, Van Itallie (2005) variant beta exon 3 NM_001146078 - splicing 1346 NP_001139550 - 239 - Wattenhofer, Van Itallie (2005) variant gamma exons 4 and 5 NM_012130 2 splicing 1233 NP_036262 - 239 - Wattenhofer, Van Itallie (2005) variant epsilon differing in the 5' UTR compared to variant 1 NM_001146077 - splicing 1469 NP_001139549 - 239 - Wattenhofer, Van Itallie (2005) variant delta exons 4 and 6

EXPRESSION

Type

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 liver         Hearing/Equilibrium ear inner cochlea Corti   Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium cochlea cell Hearing / Equilibrium stereocilia

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four putative transmembrane segments
	PMP-22/EMP/MP20/claudin domain

HOMOLOGY

interspecies

ortholog to murine Cldn14

Homologene

FAMILY

claudin family

CATEGORY

adhesion , structural protein

SUBCELLULAR LOCALIZATION

plasma membrane,junction,tight

basic FUNCTION	compartimentalizing endolymph and providing support for the auditory neuroepithelium
	tight junction specific obliteration of the intercellular space
	its ability to be recruited to these junctions is crucial for the hearing process
	creating charge specific channels in the paracellular space
	regulates paracellular permeability at epithelial tight junctions (Thorleifsson 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/hearing

a component

major structural components of tight junction (TJ) strands

INTERACTION

DNA

RNA

small molecule	other,
	palmitoylation of claudin-14 required for efficient localization into tight junctions

protein

binding specifically to the WW domain of Yes-associated protein YAP

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DFNB29

related resource

Hereditary Hearing Loss Homepage

Susceptibility

to kidney stones

Variant & Polymorphism SNP	common, synonymous variants in the CLDN14 gene that associate with kidney stones (Thorleifsson 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS