CLDN14 (claudin 14)

2014-07-01  

Identity

HGNC
LOCATION
21q22.13
LOCUSID
ALIAS
DFNB29
FUSION GENES

Other Information

Locus ID:

NCBI: 23562
MIM: 605608
HGNC: 2035
Ensembl: ENSG00000159261

Variants:

dbSNP: 23562
ClinVar: 23562
TCGA: ENSG00000159261
COSMIC: CLDN14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159261ENST00000342108O95500
ENSG00000159261ENST00000399135O95500
ENSG00000159261ENST00000399136O95500
ENSG00000159261ENST00000399137O95500
ENSG00000159261ENST00000399139O95500

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Cell adhesion molecules (CAMs)KEGGko04514
Tight junctionKEGGko04530
Leukocyte transendothelial migrationKEGGko04670
Cell adhesion molecules (CAMs)KEGGhsa04514
Tight junctionKEGGhsa04530
Leukocyte transendothelial migrationKEGGhsa04670
Hepatitis CKEGGko05160
Hepatitis CKEGGhsa05160
Cell-Cell communicationREACTOMER-HSA-1500931
Cell junction organizationREACTOMER-HSA-446728
Cell-cell junction organizationREACTOMER-HSA-421270
Tight junction interactionsREACTOMER-HSA-420029

References

Pubmed IDYearTitleCitations
195616062009Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.88
195616062009Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.88
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
157698492005Palmitoylation of claudins is required for efficient tight-junction localization.55
233226402013Human claudin-8 and -14 are receptors capable of conveying the cytotoxic effects of Clostridium perfringens enterotoxin.23
158807852005Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.17
243257922013The distinct expression patterns of claudin-10, -14, -17 and E-cadherin between adjacent non-neoplastic tissues and gastric cancer tissues.17
222466732012Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.13
204949802010Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.10
232353332013Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.9

Citation

Dessen P

CLDN14 (claudin 14)

Atlas Genet Cytogenet Oncol Haematol. 2014-07-01

Online version: http://atlasgeneticsoncology.org/gene/54074/cldn14