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
355464052022The correlation between promoter hypermethylation of VDR, CLDN, and CasR genes and recurrent stone formation.6
355464052022The correlation between promoter hypermethylation of VDR, CLDN, and CasR genes and recurrent stone formation.6
315275092019Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant.5
315275092019Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant.5
294478212018Genetic analysis of CLDN14 in the Chinese population affected with non-syndromic hearing loss.4
302321342018Claudin-14 Gene Polymorphisms and Urine Calcium Excretion.7
294478212018Genetic analysis of CLDN14 in the Chinese population affected with non-syndromic hearing loss.4
302321342018Claudin-14 Gene Polymorphisms and Urine Calcium Excretion.7
276299232017Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.13
278387902017A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.8
282295052017A variant in a cis-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones.9
294340632017Mutations in OTOF, CLDN14 & SLC26A4 genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India.6
276299232017Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.13
278387902017A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.8
282295052017A variant in a cis-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones.9

Citation

Dessen P

CLDN14 (claudin 14)

Atlas Genet Cytogenet Oncol Haematol. 2014-07-01

Online version: http://atlasgeneticsoncology.org/gene/54074/cldn14-(claudin-14)