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Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_144492 Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA. ORF Sequence $208.80
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RefSeq Version NM_144492.2, 225703134
Length 1958 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.
Product claudin-14
Comment

Summary: Tight 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].


Transcript Variant: This variant (alpha) represents the longest transcript. All five variants encode the same protein.

RefSeq NP_652763.1
CDS 868..1587
Misc Feature(1)850..852
Misc Feature(2)877..1368
Misc Feature(3)877..1368
Misc Feature(4)889..951
Misc Feature(5)1111..1173
Misc Feature(6)1213..1275
Misc Feature(7)1354..1416
Exon (1)1..596
Gene:CLDN14
Gene Synonym:DFNB29
Exon (2)597..786
Gene:CLDN14
Gene Synonym:DFNB29
Exon (3)787..1942
Gene:CLDN14
Gene Synonym:DFNB29
Translation MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTG IYQCQIYRSLLALPQDLQAARALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAIL GGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEIGQALYLGFISSSLSLIGGTL LCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV
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Position Chain Variation Link
complement(23..25)-dbSNP:
complement(23..25)-, tccdbSNP:139003220
complement(153)-g, cdbSNP:116629563
complement(288)-t, cdbSNP:150344346
complement(341)-g, cdbSNP:117804848
complement(381)-t, cdbSNP:140333712
complement(388)-t, cdbSNP:219742
complement(414)-g, cdbSNP:188733
complement(436)-g, adbSNP:78291168
complement(448)-t, cdbSNP:151272065
complement(492)-t, cdbSNP:181645276
complement(547)-g, adbSNP:114492024
complement(689)-dbSNP:
complement(689)-t, cdbSNP:73902533
complement(708)-t, cdbSNP:181028658
complement(755)-g, adbSNP:28653283
complement(811)-dbSNP:
complement(811)-t, cdbSNP:188479887
complement(831)-t, cdbSNP:149049781
complement(878)-g, adbSNP:113831133
complement(883)-t, cdbSNP:202117396
complement(918)-g, adbSNP:150040476
complement(930)-t, cdbSNP:117560775
complement(969)-t, cdbSNP:146395322
complement(973)-t, cdbSNP:142205038
complement(993)-t, cdbSNP:140177046
complement(996)-g, adbSNP:150731625
complement(997)-t, cdbSNP:141139613
complement(1052)-t, cdbSNP:148223897
complement(1069)-g, adbSNP:143062991
complement(1108)-g, adbSNP:143628692
complement(1110)-t, cdbSNP:219779
complement(1121)-t, adbSNP:74315437
complement(1167)-g, adbSNP:113350364
complement(1168)-g, adbSNP:74315438
complement(1183)-g, adbSNP:140257182
complement(1204)-t, cdbSNP:138631461
complement(1228)-t, cdbSNP:150201704
complement(1273)-t, cdbSNP:140918123
complement(1280)-t, cdbSNP:151069240
complement(1281)-t, cdbSNP:142846225
complement(1291)-t, cdbSNP:146755542
complement(1293)-g, adbSNP:140671150
complement(1338)-t, cdbSNP:146860442
complement(1355)-g, adbSNP:143797113
complement(1379)-t, gdbSNP:75617474
complement(1388)-g, adbSNP:140196815
complement(1454)-g, adbSNP:200651246
complement(1455)-t, gdbSNP:144371384
complement(1481)-g, adbSNP:149671826
complement(1485)-g, adbSNP:184035890
complement(1488)-g, adbSNP:139437157
complement(1500)-g, adbSNP:61745291
complement(1524)-g, adbSNP:143566360
complement(1531)-t, cdbSNP:138008896
complement(1554)-g, adbSNP:219780
complement(1557)-g, adbSNP:149733854
complement(1582)-t, cdbSNP:201218449
complement(1597)-g, cdbSNP:139628442
complement(1635)-t, cdbSNP:199523516
complement(1638)-t, cdbSNP:114551506
complement(1694)-t, cdbSNP:112112443
complement(1752)-t, cdbSNP:150553857
complement(1921)-t, cdbSNP:142629054
complement(1922)-t, gdbSNP:185515617
complement(1934)-c, adbSNP:201508874
Gene SymbolCLDN14
Gene SynonymDFNB29
Chromosome21
Locus Map21q22.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001146077 Homo sapiens claudin 14 (CLDN14), transcript variant 3, mRNA. Full Length $426.01
ORF Sequence $208.80
NM_001146078 Homo sapiens claudin 14 (CLDN14), transcript variant gamma, mRNA. Full Length $453.85
ORF Sequence $208.80
NM_001146079 Homo sapiens claudin 14 (CLDN14), transcript variant 5, mRNA. Full Length $512.72
ORF Sequence $208.80
NM_012130 Homo sapiens claudin 14 (CLDN14), transcript variant epsilon, mRNA. Full Length $361.63
ORF Sequence $208.80
NM_144492 Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA. Full Length $567.82
ORF Sequence $208.80
Title Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss .
Author Lee,K., Ansar,M., Andrade,P.B., Khan,B., Santos-Cortez,R.L., Ahmad,W. and Leal,S.M.
Journal Am. J. Med. Genet. A 158A (2), 315-321 (2012)
Title Mutations in CLDN14 are associated with different hearing thresholds .
Author Bashir,R., Fatima,A. and Naz,S.
Journal J. Hum. Genet. 55 (11), 767-770 (2010)
Title Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density .
Author Thorleifsson,G., Holm,H., Edvardsson,V., Walters,G.B., Styrkarsdottir,U., Gudbjartsson,D.F., Sulem,P., Halldorsson,B.V., de Vegt,F., d'Ancona,F.C., den Heijer,M., Franzson,L., Christiansen,C., Alexandersen,P., Rafnar,T., Kristjansson,K., Sigurdsson,G., Kiemeney,L.A., Bodvarsson,M., Indridason,O.S., Palsson,R., Kong,A., Thorsteinsdottir,U. and Stefansson,K.
Journal Nat. Genet. 41 (8), 926-930 (2009)
Title Mutation in gap and tight junctions in patients with non-syndromic hearing loss .
Author Belguith,H., Tlili,A., Dhouib,H., Ben Rebeh,I., Lahmar,I., Charfeddine,I., Driss,N., Ghorbel,A., Ayadi,H. and Masmoudi,S.
Journal Biochem. Biophys. Res. Commun. 385 (1), 1-5 (2009)
Title The claudins .
Author Lal-Nag,M. and Morin,P.J.
Journal Genome Biol. 10 (8), 235 (2009)
Title Claudin-based barrier in simple and stratified cellular sheets .
Author Tsukita,S. and Furuse,M.
Journal Curr. Opin. Cell Biol. 14 (5), 531-536 (2002)
Title Multifunctional strands in tight junctions .
Author Tsukita,S., Furuse,M. and Itoh,M.
Journal Nat. Rev. Mol. Cell Biol. 2 (4), 285-293 (2001)
Title The roles of claudin superfamily proteins in paracellular transport .
Author Heiskala,M., Peterson,P.A. and Yang,Y.
Journal Traffic 2 (2), 93-98 (2001)
Title Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29 .
Author Wilcox,E.R., Burton,Q.L., Naz,S., Riazuddin,S., Smith,T.N., Ploplis,B., Belyantseva,I., Ben-Yosef,T., Liburd,N.A., Morell,R.J., Kachar,B., Wu,D.K., Griffith,A.J., Riazuddin,S. and Friedman,T.B.
Journal Cell 104 (1), 165-172 (2001)
Title Tight junctions of the blood-brain barrier .
Author Kniesel,U. and Wolburg,H.
Journal Cell. Mol. Neurobiol. 20 (1), 57-76 (2000)

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