LOCUS       NM_001146079            1784 bp    mRNA    linear   PRI 06-DEC-2024
DEFINITION  Homo sapiens claudin 14 (CLDN14), transcript variant 5, mRNA.
ACCESSION   NM_001146079
VERSION     NM_001146079.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1784)
  AUTHORS   Mohanty,S., White,J.K., Scheffschick,A., Fischer,B., Pathak,A.,
            Tovi,J., Ostenson,C.G., Aspenstrom,P., Brauner,H. and Brauner,A.
  TITLE     Diabetes compromises tight junction protein claudin 14 in the
            urinary bladder
  JOURNAL   Cell Tissue Res 398 (1), 27-33 (2024)
   PUBMED   39162877
  REMARK    GeneRIF: Diabetes compromises tight junction protein claudin 14 in
            the urinary bladder.
REFERENCE   2  (bases 1 to 1784)
  AUTHORS   Mizukami,Y., Ito,A., Hashimoto,S., Ando,T., Ishikawa,Y., Eguchi,H.,
            Yoshino,Y., Matsunaga,T. and Ikari,A.
  TITLE     Downregulation of chemoresistance by claudin-14 silencing in human
            colorectal cancer cells
  JOURNAL   Arch Biochem Biophys 758, 110075 (2024)
   PUBMED   38942107
  REMARK    GeneRIF: Downregulation of chemoresistance by claudin-14 silencing
            in human colorectal cancer cells.
REFERENCE   3  (bases 1 to 1784)
  AUTHORS   Khatami,F., Gorji,A., Khoshchehreh,M., Mashhadi,R., Pishkuhi,M.A.,
            Khajavi,A., Shabestari,A.N. and Aghamir,S.M.K.
  TITLE     The correlation between promoter hypermethylation of VDR, CLDN, and
            CasR genes and recurrent stone formation
  JOURNAL   BMC Med Genomics 15 (1), 109 (2022)
   PUBMED   35546405
  REMARK    GeneRIF: The correlation between promoter hypermethylation of VDR,
            CLDN, and CasR genes and recurrent stone formation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1784)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1784)
  AUTHORS   Kitano,T., Kitajiri,S.I., Nishio,S.Y. and Usami,S.I.
  TITLE     Detailed Clinical Features of Deafness Caused by a Claudin-14
            Variant
  JOURNAL   Int J Mol Sci 20 (18), 4579 (2019)
   PUBMED   31527509
  REMARK    GeneRIF: This report indicated that claudin-14 is essential for
            maintaining the inner ear environment and suggested the possible
            phenotypic expansion of DFNB29. This is the first report of a
            patient with a tight junction variant receiving a cochlear
            implantation.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1784)
  AUTHORS   Tsukita,S., Furuse,M. and Itoh,M.
  TITLE     Multifunctional strands in tight junctions
  JOURNAL   Nat Rev Mol Cell Biol 2 (4), 285-293 (2001)
   PUBMED   11283726
  REMARK    Review article
REFERENCE   7  (bases 1 to 1784)
  AUTHORS   Heiskala,M., Peterson,P.A. and Yang,Y.
  TITLE     The roles of claudin superfamily proteins in paracellular transport
  JOURNAL   Traffic 2 (2), 93-98 (2001)
   PUBMED   11247307
  REMARK    Review article
REFERENCE   8  (bases 1 to 1784)
  AUTHORS   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.
  TITLE     Mutations in the gene encoding tight junction claudin-14 cause
            autosomal recessive deafness DFNB29
  JOURNAL   Cell 104 (1), 165-172 (2001)
   PUBMED   11163249
REFERENCE   9  (bases 1 to 1784)
  AUTHORS   Kniesel,U. and Wolburg,H.
  TITLE     Tight junctions of the blood-brain barrier
  JOURNAL   Cell Mol Neurobiol 20 (1), 57-76 (2000)
   PUBMED   10690502
  REMARK    Review article
REFERENCE   10 (bases 1 to 1784)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000695.1, AY355348.1 and
            BC012126.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001146079.1.
            
            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 (beta) differs in the 5' UTR
            compared to variant 1. All five variants encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY355348.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2155590
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000399135.6/ ENSP00000382087.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-32                AP000695.1         25532-25563         c
            33-419              AY355348.1         1-387
            420-420             AP000695.1         25144-25144         c
            421-445             AY355348.1         389-413
            446-446             AP000695.1         25118-25118         c
            447-1780            AY355348.1         415-1748
            1781-1784           BC012126.1         1214-1217
FEATURES             Location/Qualifiers
     source          1..1784
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.13"
     gene            1..1784
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /note="claudin 14"
                     /db_xref="GeneID:23562"
                     /db_xref="HGNC:HGNC:2035"
                     /db_xref="MIM:605608"
     exon            1..628
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /inference="alignment:Splign:2.1.0"
     exon            629..1784
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /inference="alignment:Splign:2.1.0"
     CDS             710..1429
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /codon_start=1
                     /product="claudin-14"
                     /protein_id="NP_001139551.1"
                     /db_xref="CCDS:CCDS13645.1"
                     /db_xref="GeneID:23562"
                     /db_xref="HGNC:HGNC:2035"
                     /db_xref="MIM:605608"
                     /translation="MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAV
                     SYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAARALMVISCLLSGIACACAVIGM
                     KCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
                     GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYK
                     DNRAPSVTSATHSGYRLNDYV"
     regulatory      1753..1758
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /note="hexamer: AATAAA"
     polyA_site      1784
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /note="major polyA site"
ORIGIN      
        1 agcagaaaag tccaaagcag tgtgaggaca accgccaggt ggtggctcag aggaggacac
       61 agtcgctgtg ggcaggtggt cagggcgcag gagggaatga gctgtggatt tttagtaatc
      121 tacaacaatc aggcagttcc aggacacagg gaagtgagtg tgaacagcca atggacccgg
      181 agccgagagc ctgggcaggc gtaggctgga ctatggacgc cctgcaaccc tgccaggctg
      241 ggaaggggag gcttgatcct gagcgcgtgt taggaaggag atgcccaggt tcaggtgtat
      301 cgtgcatttt ttttccacag tgcagaaatg acatttctgg ttggtcttga atgtctgctc
      361 tggccaagcc acctcctctc atgctagcta accaagtggc acgtgtgccc acgcaggcca
      421 ttctaaggaa cactgtaatt gtctagacaa ttttctctca aatactccgt cctggaagcg
      481 tctggttggc agaagaggga aggcaggagg gtggcagcgt cccggctgag tcctcttgca
      541 catgggagct ggagtccagc caggctccag agcggctccg gctggcaagg gacctgaaca
      601 ggaagatgag actcgaggtt ttctgcatgg ctccggctgg cacctgagga gcggcgtgac
      661 cccgagggcc cagggagctg cccggctggc ctaggcaggc agccgcacca tggccagcac
      721 ggccgtgcag cttctgggct tcctgctcag cttcctgggc atggtgggca cgttgatcac
      781 caccatcctg ccgcactggc ggaggacagc gcacgtgggc accaacatcc tcacggccgt
      841 gtcctacctg aaagggctct ggatggagtg tgtgtggcac agcacaggca tctaccagtg
      901 ccagatctac cgatccctgc tggcgctgcc ccaagacctc caggctgccc gcgccctcat
      961 ggtcatctcc tgcctgctct cgggcatagc ctgcgcctgc gccgtcatcg ggatgaagtg
     1021 cacgcgctgc gccaagggca cacccgccaa gaccaccttt gccatcctcg gcggcaccct
     1081 cttcatcctg gccggcctcc tgtgcatggt ggccgtctcc tggaccacca acgacgtggt
     1141 gcagaacttc tacaacccgc tgctgcccag cggcatgaag tttgagattg gccaggccct
     1201 gtacctgggc ttcatctcct cgtccctctc gctcattggt ggcaccctgc tttgcctgtc
     1261 ctgccaggac gaggcaccct acaggcccta ccaggccccg cccagggcca ccacgaccac
     1321 tgcaaacacc gcacctgcct accagccacc agctgcctac aaagacaatc gggccccctc
     1381 agtgacctcg gccacgcaca gcgggtacag gctgaacgac tacgtgtgag tccccacagc
     1441 ctgcttctcc cctgggctgc tgtgggctgg gtccccggcg ggactgtcaa tggaggcagg
     1501 ggttccagca caaagtttac ttctgggcaa tttttgtatc caaggaaata atgtgaatgc
     1561 gaggaaatgt ctttagagca cagggacaga gggggaaata agaggaggag aaagctctct
     1621 ataccaaaga ctgaaaaaaa aaatcctgtc tgtttttgta tttattatat atatttatgt
     1681 gggtgatttg ataacaagtt taatataaag tgacttggga gtttggtcag tggggttggt
     1741 ttgtgatcca ggaataaacc ttgcggatgt ggctgtttat gaaa
//
