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MGP004706

Record overview

MGPD IDMGP004706
Gene ID23562
SpeciesHomo sapiens (Human)
Gene Nameclaudin 14
Gene Symbol CLDN14
SynonymsDFNB29;
Alternate namesclaudin-14;
Chromosome21
Map Location21q22.3
SummaryTight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. It is also reported that four synonymous variants in this gene are associated with kidney stones and reduced bone mineral density. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010]
OrthologsView orthologs and multiple alignments for CLDN14

Proteins

claudin-14
Refseq ID:NP_652763
Protein GI:21536294
UniProt ID:O95500
mRNA ID:NM_144492
Length:239
RefSeq Status:
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAARALMVISCLLSGIACACAVI
GMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEIGQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRA
TTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV
 
claudin-14
Refseq ID:NP_001139549
Protein GI:225703138
UniProt ID:O95500
mRNA ID:NM_001146077
Length:239
RefSeq Status:
Protein sequence is identical to GI:21536294 (mRNA isoform)
 
claudin-14
Refseq ID:NP_036262
Protein GI:6912314
UniProt ID:O95500
mRNA ID:NM_012130
Length:239
RefSeq Status:
Protein sequence is identical to GI:21536294 (mRNA isoform)
 
claudin-14
Refseq ID:NP_001139551
Protein GI:225703142
UniProt ID:O95500
mRNA ID:NM_001146079
Length:239
RefSeq Status:
Protein sequence is identical to GI:21536294 (mRNA isoform)
 
claudin-14
Refseq ID:NP_001139550
Protein GI:225703140
UniProt ID:O95500
mRNA ID:NM_001146078
Length:239
RefSeq Status:
Protein sequence is identical to GI:21536294 (mRNA isoform)
 
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