GGRNA | NM_021195.4

LOCUS       NM_021195               1389 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens claudin 6 (CLDN6), mRNA.
ACCESSION   NM_021195
VERSION     NM_021195.4  GI:153792767
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 1389)
  AUTHORS   Sullivan,L.M., Yankovich,T., Le,P., Martinez,D., Santi,M.,
            Biegel,J.A., Pawel,B.R. and Judkins,A.R.
  TITLE     Claudin-6 is a nonspecific marker for malignant rhabdoid and other
            pediatric tumors
  JOURNAL   Am. J. Surg. Pathol. 36 (1), 73-80 (2012)
   PUBMED   21989342
  REMARK    GeneRIF: CLDN6 is not a specific biomarker for atypical teratoid
            rhabdoid tumors as it is expressed in a variety of other pediatric
            CNS and soft tissue tumors.
REFERENCE   2  (bases 1 to 1389)
  AUTHORS   Guo,Y., Xu,X., Liu,Z., Zhang,T., Zhang,X., Wang,L., Wang,M.,
            Liu,Y., Lu,Y., Liu,Y. and Quan,C.
  TITLE     Apoptosis signal-regulating kinase 1 is associated with the effect
            of claudin-6 in breast cancer
  JOURNAL   Diagn Pathol 7, 111 (2012)
   PUBMED   22925655
  REMARK    GeneRIF: ASK1 signal may play a positive role in the inhibitory
            effect of claudin-6 in breast cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1389)
  AUTHORS   Xu,X., Jin,H., Liu,Y., Liu,L., Wu,Q., Guo,Y., Yu,L., Liu,Z.,
            Zhang,T., Zhang,X., Dong,X. and Quan,C.
  TITLE     The expression patterns and correlations of claudin-6, methy-CpG
            binding protein 2, DNA methyltransferase 1, histone deacetylase 1,
            acetyl-histone H3 and acetyl-histone H4 and their
            clinicopathological significance in breast invasive ductal
            carcinomas
  JOURNAL   Diagn Pathol 7, 33 (2012)
   PUBMED   22455563
  REMARK    GeneRIF: Our results show that claudin-6 protein is significantly
            down-regulated in breast invasive ductal carcinomas
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1389)
  AUTHORS   Zavala-Zendejas,V.E., Torres-Martinez,A.C., Salas-Morales,B.,
            Fortoul,T.I., Montano,L.F. and Rendon-Huerta,E.P.
  TITLE     Claudin-6, 7, or 9 overexpression in the human gastric
            adenocarcinoma cell line AGS increases its invasiveness, migration,
            and proliferation rate
  JOURNAL   Cancer Invest. 29 (1), 1-11 (2011)
   PUBMED   20874001
  REMARK    GeneRIF: Increased expression of claudin-6, claudin-7, or claudin-9
            is sufficient to enhance tumorigenic properties of a gastric
            adenocarcinoma cell line.
REFERENCE   5  (bases 1 to 1389)
  AUTHORS   Liu,Y.F., Wu,Q., Xu,X.M., Ren,Y., Yu,L.N., Quan,C.S. and Li,Y.L.
  TITLE     [Effects of 17beta-estradiol on proliferation and migration of
            MCF-7 cell by regulating expression of claudin-6]
  JOURNAL   Zhonghua Bing Li Xue Za Zhi 39 (1), 44-47 (2010)
   PUBMED   20388399
  REMARK    GeneRIF: 17beta-E2 might regulate the expression of claudin-6 and
            inhibit the proliferation and migration of MCF-7 cells.
REFERENCE   6  (bases 1 to 1389)
  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   7  (bases 1 to 1389)
  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   8  (bases 1 to 1389)
  AUTHORS   Itoh,M., Furuse,M., Morita,K., Kubota,K., Saitou,M. and Tsukita,S.
  TITLE     Direct binding of three tight junction-associated MAGUKs, ZO-1,
            ZO-2, and ZO-3, with the COOH termini of claudins
  JOURNAL   J. Cell Biol. 147 (6), 1351-1363 (1999)
   PUBMED   10601346
REFERENCE   9  (bases 1 to 1389)
  AUTHORS   Morita,K., Sasaki,H., Furuse,M. and Tsukita,S.
  TITLE     Endothelial claudin: claudin-5/TMVCF constitutes tight junction
            strands in endothelial cells
  JOURNAL   J. Cell Biol. 147 (1), 185-194 (1999)
   PUBMED   10508865
REFERENCE   10 (bases 1 to 1389)
  AUTHORS   Morita,K., Furuse,M., Fujimoto,K. and Tsukita,S.
  TITLE     Claudin multigene family encoding four-transmembrane domain protein
            components of tight junction strands
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 96 (2), 511-516 (1999)
   PUBMED   9892664
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX444798.2, CN420342.1 and
            BC008934.2.
            On Jul 25, 2007 this sequence version replaced gi:39725680.
            
            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. This gene encodes a component of tight
            junction strands, which is a member of the claudin family. The
            protein is an integral membrane protein and is one of the entry
            cofactors for hepatitis C virus. The gene methylation may be
            involved in esophageal tumorigenesis. This gene is adjacent to
            another family member CLDN9 on chromosome 16.[provided by RefSeq,
            Aug 2010].
            
            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 :: BX444798.2, AK075329.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025091 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-50                BX444798.2         1-50
            51-565              CN420342.1         12-526
            566-1389            BC008934.2         540-1363
FEATURES             Location/Qualifiers
     source          1..1389
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1389
                     /gene="CLDN6"
                     /note="claudin 6"
                     /db_xref="GeneID:9074"
                     /db_xref="HGNC:2048"
     exon            1..39
                     /gene="CLDN6"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    13..15
                     /gene="CLDN6"
                     /note="upstream in-frame stop codon"
     STS             38..849
                     /gene="CLDN6"
                     /standard_name="CLDN6_v570"
                     /db_xref="UniSTS:277106"
     exon            40..1370
                     /gene="CLDN6"
                     /inference="alignment:Splign:1.39.8"
     CDS             61..723
                     /gene="CLDN6"
                     /note="claudin-6; skullin"
                     /codon_start=1
                     /product="claudin-6 precursor"
                     /protein_id="NP_067018.2"
                     /db_xref="GI:153792768"
                     /db_xref="CCDS:CCDS10488.1"
                     /db_xref="GeneID:9074"
                     /db_xref="HGNC:2048"
                     /translation="

MASAGMQILGVVLTLLGWVNGLVSCALPMWKVTAFIGNSIVVAQVVWEGLWMSCVVQSTGQMQCKVYDSLLALPQDLQAARALCVIALLVALFGLLVYLAGAKCTTCVEEKDSKARLVLTSGIVFVISGVLTLIPVCWTAHAIIRDFYNPLVAEAQKRELGASLYLGWAASGLLLLGGGLLCCTCPSGGSQGPSHYMARYSTSAPAISRGPSEYPTKNYV

"
     sig_peptide     61..123
                     /gene="CLDN6"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    73..513
                     /gene="CLDN6"
                     /note="PMP-22/EMP/MP20/Claudin family; Region:
                     PMP22_Claudin; cl15797"
                     /db_xref="CDD:210197"
     misc_feature    82..144
                     /gene="CLDN6"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P56747.2);
                     transmembrane region"
     misc_feature    304..366
                     /gene="CLDN6"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P56747.2);
                     transmembrane region"
     misc_feature    409..471
                     /gene="CLDN6"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P56747.2);
                     transmembrane region"
     misc_feature    541..603
                     /gene="CLDN6"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P56747.2);
                     transmembrane region"
     misc_feature    661..663
                     /gene="CLDN6"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P56747.2); phosphorylation site"
     misc_feature    667..669
                     /gene="CLDN6"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P56747.2); phosphorylation site"
     misc_feature    682..684
                     /gene="CLDN6"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P56747.2); phosphorylation site"
     misc_feature    694..696
                     /gene="CLDN6"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P56747.2); phosphorylation site"
     misc_feature    715..720
                     /gene="CLDN6"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P56747.2);
                     Region: Interactions with TJP1, TJP2 and TJP3 (By
                     similarity)"
     variation       159
                     /gene="CLDN6"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2269911"
     variation       487
                     /gene="CLDN6"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2257295"
     variation       1299
                     /gene="CLDN6"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3205939"
ORIGIN

cgacactcggcctaggaatttcccttatctccttcgcagtgcagctccttcaacctcgccatggcctctgccggaatgcagatcctgggagtcgtcctgacactgctgggctgggtgaatggcctggtctcctgtgccctgcccatgtggaaggtgaccgctttcatcggcaacagcatcgtggtggcccaggtggtgtgggagggcctgtggatgtcctgcgtggtgcagagcaccggccagatgcagtgcaaggtgtacgactcactgctggcgctgccacaggacctgcaggctgcacgtgccctctgtgtcatcgccctccttgtggccctgttcggcttgctggtctaccttgctggggccaagtgtaccacctgtgtggaggagaaggattccaaggcccgcctggtgctcacctctgggattgtctttgtcatctcaggggtcctgacgctaatccccgtgtgctggacggcgcatgccatcatccgggacttctataaccccctggtggctgaggcccaaaagcgggagctgggggcctccctctacttgggctgggcggcctcaggccttttgttgctgggtggggggttgctgtgctgcacttgcccctcgggggggtcccagggccccagccattacatggcccgctactcaacatctgcccctgccatctctcgggggccctctgagtaccctaccaagaattacgtctgacgtggaggggaatgggggctccgctggcgctagagccatccagaagtggcagtgcccaacagctttgggatgggttcgtaccttttgtttctgcctcctgctatttttcttttgactgaggatatttaaaattcatttgaaaactgagccaaggtgttgactcagactctcacttaggctctgctgtttctcacccttggatgatggagccaaagaggggatgctttgagattctggatcttgacatgcccatcttagaagccagtcaagctatggaactaatgcggaggctgcttgctgtgctggctttgcaacaagacagactgtccccaagagttcctgctgctgctgggggctgggcttccctagatgtcactggacagctgccccccatcctactcaggtctctggagctcctctcttcacccctggaaaaacaaatgatctgttaacaaaggactgcccacctccggaacttctgacctctgtttcctccgtcctgataagacgtccaccccccagggccaggtcccagctatgtagacccccgcccccacctccaacactgcacccttctgccctgcccccctcgtctcaccccctttacactcacatttttatcaaataaagcatgttttgttagtgcaaaaaaaaaaaaaaaaaaaa

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