GGRNA | NM_001146078.2

LOCUS       NM_001146078            1565 bp    mRNA    linear   PRI 15-JUL-2013
DEFINITION  Homo sapiens claudin 14 (CLDN14), transcript variant gamma, mRNA.
ACCESSION   NM_001146078
VERSION     NM_001146078.2  GI:393538652
KEYWORDS    RefSeq.
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 1565)
  AUTHORS   Charif,M., Bakhchane,A., Abidi,O., Boulouiz,R., Eloualid,A.,
            Roky,R., Rouba,H., Kandil,M., Lenaers,G. and Barakat,A.
  TITLE     Analysis of CLDN14 gene in deaf Moroccan patients with
            non-syndromic hearing loss
  JOURNAL   Gene 523 (1), 103-105 (2013)
   PUBMED   23590985
  REMARK    GeneRIF: CLDN14 mutations can contribute to the aetiology of
            childhood/congenital deafness in Moroccan patients.
REFERENCE   2  (bases 1 to 1565)
  AUTHORS   Bashir,Z.E., Latief,N., Belyantseva,I.A., Iqbal,F., Amer
            Riazuddin,S., Khan,S.N., Friedman,T.B., Riazuddin,S. and
            Riazuddin,S.
  TITLE     Phenotypic variability of CLDN14 mutations causing DFNB29 hearing
            loss in the Pakistani population
  JOURNAL   J. Hum. Genet. 58 (2), 102-108 (2013)
   PUBMED   23235333
  REMARK    GeneRIF: OPRM1 genetic polymorphisms are associated with the plasma
            concentration of cotinine in a Taiwanese MMT cohort. Carriers with
            the major allele of SNP rs1799971 had a higher plasma cotinine
            concentration.
REFERENCE   3  (bases 1 to 1565)
  AUTHORS   Shrestha,A. and McClane,B.A.
  TITLE     Human claudin-8 and -14 are receptors capable of conveying the
            cytotoxic effects of Clostridium perfringens enterotoxin
  JOURNAL   MBio 4 (1) (2013)
   PUBMED   23322640
  REMARK    GeneRIF: Human Cldn-8 and -14 were shown to convey Clostridium
            perfringens enterotoxin-mediated cytotoxicity at
            pathophysiologically relevant concentrations of this toxin,
            although ~2-to-10-fold less efficiently than Cldn-4.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1565)
  AUTHORS   Smith JG, Avery CL, Evans DS, Nalls MA, Meng YA, Smith EN, Palmer
            C, Tanaka T, Mehra R, Butler AM, Young T, Buxbaum SG, Kerr KF,
            Berenson GS, Schnabel RB, Li G, Ellinor PT, Magnani JW, Chen W, Bis
            JC, Curb JD, Hsueh WC, Rotter JI, Liu Y, Newman AB, Limacher MC,
            North KE, Reiner AP, Quibrera PM, Schork NJ, Singleton AB, Psaty
            BM, Soliman EZ, Solomon AJ, Srinivasan SR, Alonso A, Wallace R,
            Redline S, Zhang ZM, Post WS, Zonderman AB, Taylor HA, Murray SS,
            Ferrucci L, Arking DE, Evans MK, Fox ER, Sotoodehnia N, Heckbert
            SR, Whitsel EA and Newton-Cheh C.
  CONSRTM   CARe and COGENT consortia
  TITLE     Impact of ancestry and common genetic variants on QT interval in
            African Americans
  JOURNAL   Circ Cardiovasc Genet 5 (6), 647-655 (2012)
   PUBMED   23166209
REFERENCE   5  (bases 1 to 1565)
  AUTHORS   Lee,K., Ansar,M., Andrade,P.B., Khan,B., Santos-Cortez,R.L.,
            Ahmad,W. and Leal,S.M.
  TITLE     Novel CLDN14 mutations in Pakistani families with autosomal
            recessive non-syndromic hearing loss
  JOURNAL   Am. J. Med. Genet. A 158A (2), 315-321 (2012)
   PUBMED   22246673
  REMARK    GeneRIF: The hearing loss due to novel CLDN14 mutations is
            prelingual, severe-to-profound with greater loss in the high
            frequencies.
REFERENCE   6  (bases 1 to 1565)
  AUTHORS   Tsukita,S. and Furuse,M.
  TITLE     Claudin-based barrier in simple and stratified cellular sheets
  JOURNAL   Curr. Opin. Cell Biol. 14 (5), 531-536 (2002)
   PUBMED   12231346
  REMARK    Review article
REFERENCE   7  (bases 1 to 1565)
  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   8  (bases 1 to 1565)
  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   9  (bases 1 to 1565)
  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   10 (bases 1 to 1565)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AI655909.1, AJ566765.1 and
            BC012126.1.
            On Jul 3, 2012 this sequence version replaced gi:225703139.
            
            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 (gamma) 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 :: AJ566765.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025092 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-219               AI655909.1         284-502             c
            220-1545            AJ566765.1         1-1326
            1546-1565           BC012126.1         1214-1233
FEATURES             Location/Qualifiers
     source          1..1565
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..1565
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /note="claudin 14"
                     /db_xref="GeneID:23562"
                     /db_xref="HGNC:2035"
                     /db_xref="MIM:605608"
     exon            1..255
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /inference="alignment:Splign:1.39.8"
     exon            256..393
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /inference="alignment:Splign:1.39.8"
     exon            394..1549
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    457..459
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /note="upstream in-frame stop codon"
     CDS             475..1194
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /codon_start=1
                     /product="claudin-14"
                     /protein_id="NP_001139550.1"
                     /db_xref="GI:225703140"
                     /db_xref="CCDS:CCDS13645.1"
                     /db_xref="GeneID:23562"
                     /db_xref="HGNC:2035"
                     /db_xref="MIM:605608"
                     /translation="

MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAARALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEIGQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV

"
     misc_feature    484..975
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /note="PMP-22/EMP/MP20/Claudin family; Region:
                     PMP22_Claudin; cl15797"
                     /db_xref="CDD:210197"
     misc_feature    496..558
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O95500.1);
                     transmembrane region"
     misc_feature    718..780
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O95500.1);
                     transmembrane region"
     misc_feature    820..882
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O95500.1);
                     transmembrane region"
     misc_feature    961..1023
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O95500.1);
                     transmembrane region"
     variation       526
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369883669"
     variation       717
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:219779"
     variation       1161
                     /gene="CLDN14"
                     /gene_synonym="DFNB29"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:219780"
ORIGIN

agcccacagaggtaattccactctgcgcctcaattattcatcgcgctggggctgtctctgcgtggtcacctgcgcgctgcagagtcccccagcgctccggggactgctcgggggctgctggggggcctctgggaggcctgtcgctcgaggggaggccggatcaaggagagtcacgcggctccctggggagaacgggcgccgggccctcacagaccccagagcggccatgagctggtgtgcagccgcccaggaggggggctgcaaggcccagagatctggacacaagccaagaagtcaagaactgttgaagccgcagtctccactctcctactgacaccagagaccacccagcccagccaaaccatatggcctcttgttttcctgatgtatgagggctccggctggcacctgaggagcggcgtgaccccgagggcccagggagctgcccggctggcctaggcaggcagccgcaccatggccagcacggccgtgcagcttctgggcttcctgctcagcttcctgggcatggtgggcacgttgatcaccaccatcctgccgcactggcggaggacagcgcacgtgggcaccaacatcctcacggccgtgtcctacctgaaagggctctggatggagtgtgtgtggcacagcacaggcatctaccagtgccagatctaccgatccctgctggcgctgccccaagacctccaggctgcccgcgccctcatggtcatctcctgcctgctctcgggcatagcctgcgcctgcgccgtcatcgggatgaagtgcacgcgctgcgccaagggcacacccgccaagaccacctttgccatcctcggcggcaccctcttcatcctggccggcctcctgtgcatggtggccgtctcctggaccaccaacgacgtggtgcagaacttctacaacccgctgctgcccagcggcatgaagtttgagattggccaggccctgtacctgggcttcatctcctcgtccctctcgctcattggtggcaccctgctttgcctgtcctgccaggacgaggcaccctacaggccctaccaggccccgcccagggccaccacgaccactgcaaacaccgcacctgcctaccagccaccagctgcctacaaagacaatcgggccccctcagtgacctcggccacgcacagcgggtacaggctgaacgactacgtgtgagtccccacagcctgcttctcccctgggctgctgtgggctgggtccccggcgggactgtcaatggaggcaggggttccagcacaaagtttacttctgggcaatttttgtatccaaggaaataatgtgaatgcgaggaaatgtctttagagcacagggacagagggggaaataagaggaggagaaagctctctataccaaagactgaaaaaaaaaatcctgtctgtttttgtatttattatatatatttatgtgggtgatttgataacaagtttaatataaagtgacttgggagtttggtcagtggggttggtttgtgatccaggaataaaccttgcggatgtggctgtttatgaaaaaaaaaaaaaaaaaaa

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