GGRNA | NM_001171092.1

LOCUS       NM_001171092            3163 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens claudin 2 (CLDN2), transcript variant 2, mRNA.
ACCESSION   NM_001171092
VERSION     NM_001171092.1  GI:283806627
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 3163)
  AUTHORS   Den Beste,K.A., Hoddeson,E.K., Parkos,C.A., Nusrat,A. and Wise,S.K.
  TITLE     Epithelial permeability alterations in an in vitro air-liquid
            interface model of allergic fungal rhinosinusitis
  JOURNAL   Int Forum Allergy Rhinol 3 (1), 19-25 (2013)
   PUBMED   22927233
  REMARK    GeneRIF: Sinonasal epithelium in allergic fungal rhinosinusitis
            displays increased epithelial permeability and an altered
            expression of claudin-2
REFERENCE   2  (bases 1 to 3163)
  AUTHORS   Whitcomb DC, LaRusch J, Krasinskas AM, Klei L, Smith JP, Brand RE,
            Neoptolemos JP, Lerch MM, Tector M, Sandhu BS, Guda NM, Orlichenko
            L, Alkaade S, Amann ST, Anderson MA, Baillie J, Banks PA, Conwell
            D, Cote GA, Cotton PB, DiSario J, Farrer LA, Forsmark CE, Johnstone
            M, Gardner TB, Gelrud A, Greenhalf W, Haines JL, Hartman DJ, Hawes
            RA, Lawrence C, Lewis M, Mayerle J, Mayeux R, Melhem NM, Money ME,
            Muniraj T, Papachristou GI, Pericak-Vance MA, Romagnuolo J,
            Schellenberg GD, Sherman S, Simon P, Singh VP, Slivka A, Stolz D,
            Sutton R, Weiss FU, Wilcox CM, Zarnescu NO, Wisniewski SR,
            O'Connell MR, Kienholz ML, Roeder K, Barmada MM, Yadav D and Devlin
            B.
  CONSRTM   Alzheimer's Disease Genetics Consortium
  TITLE     Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter
            risk for alcohol-related and sporadic pancreatitis
  JOURNAL   Nat. Genet. 44 (12), 1349-1354 (2012)
   PUBMED   23143602
  REMARK    GeneRIF: Two associations with alcoholic pancreatitis at
            genome-wide significance were identified and replicated at
            PRSS1-PRSS2 and X-linked CLDN2 through a two-stage genome-wide
            study.
REFERENCE   3  (bases 1 to 3163)
  AUTHORS   Kim,T.I., Poulin,E.J., Blask,E., Bukhalid,R., Whitehead,R.H.,
            Franklin,J.L. and Coffey,R.J.
  TITLE     Myofibroblast keratinocyte growth factor reduces tight junctional
            integrity and increases claudin-2 levels in polarized Caco-2 cells
  JOURNAL   Growth Factors 30 (5), 320-332 (2012)
   PUBMED   22946653
  REMARK    GeneRIF: results implicate pericryptal myofibroblast-derived
            paracrine KGF and largely autocrine amphiregulin in the
            upregulation of claudin-2 in Caco-2 epithelial monolayers and
            consequent disruption of tight junction integrity
REFERENCE   4  (bases 1 to 3163)
  AUTHORS   Van Itallie,C.M., Mitic,L.L. and Anderson,J.M.
  TITLE     SUMOylation of claudin-2
  JOURNAL   Ann. N. Y. Acad. Sci. 1258, 60-64 (2012)
   PUBMED   22731716
  REMARK    GeneRIF: Stable expression of inducible GFP-SUMO-1 in MDCK cells
            resulted in decreased levels of claudin-2 protein by immunoblot and
            decreased claudin-2 membrane expression
REFERENCE   5  (bases 1 to 3163)
  AUTHORS   Ikari,A., Sato,T., Watanabe,R., Yamazaki,Y. and Sugatani,J.
  TITLE     Increase in claudin-2 expression by an EGFR/MEK/ERK/c-Fos pathway
            in lung adenocarcinoma A549 cells
  JOURNAL   Biochim. Biophys. Acta 1823 (6), 1110-1118 (2012)
   PUBMED   22546605
  REMARK    GeneRIF: These results suggest that EGF is secreted from A549 cells
            by MMP and increases claudin-2 expression mediated via the
            activation of an EGFR/MEK/ERK pathway.
REFERENCE   6  (bases 1 to 3163)
  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 3163)
  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 3163)
  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 3163)
  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
REFERENCE   10 (bases 1 to 3163)
  AUTHORS   Furuse,M., Fujita,K., Hiiragi,T., Fujimoto,K. and Tsukita,S.
  TITLE     Claudin-1 and -2: novel integral membrane proteins localizing at
            tight junctions with no sequence similarity to occludin
  JOURNAL   J. Cell Biol. 141 (7), 1539-1550 (1998)
   PUBMED   9647647
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF177340.1, AK075405.1 and
            AA973123.1.
            
            Summary: This gene product belongs to the claudin protein family
            whose members have been identified as major integral membrane
            proteins localized exclusively at tight junctions. Claudins are
            expressed in an organ-specific manner and regulate tissue-specific
            physiologic properties of tight junctions. This protein is
            expressed in the intestine. Alternatively spliced transcript
            variants with different 5' untranslated region have been found for
            this gene.[provided by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (2) uses an alternate 5'
            non-coding exon compared to variant 1. Variants 1-3 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 :: AF177340.1, DA018143.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1871              AF177340.1         1-1871
            1872-2715           AK075405.1         1679-2522
            2716-3163           AA973123.1         1-448               c
FEATURES             Location/Qualifiers
     source          1..3163
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.3-q23"
     gene            1..3163
                     /gene="CLDN2"
                     /note="claudin 2"
                     /db_xref="GeneID:9075"
                     /db_xref="HGNC:2041"
                     /db_xref="MIM:300520"
     exon            1..341
                     /gene="CLDN2"
                     /inference="alignment:Splign:1.39.8"
     STS             21..284
                     /gene="CLDN2"
                     /standard_name="SGC38161"
                     /db_xref="UniSTS:61234"
     variation       complement(70)
                     /gene="CLDN2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1129690"
     exon            342..3152
                     /gene="CLDN2"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    427..429
                     /gene="CLDN2"
                     /note="upstream in-frame stop codon"
     CDS             520..1212
                     /gene="CLDN2"
                     /note="SP82"
                     /codon_start=1
                     /product="claudin-2"
                     /protein_id="NP_001164563.1"
                     /db_xref="GI:283806628"
                     /db_xref="CCDS:CCDS14524.1"
                     /db_xref="GeneID:9075"
                     /db_xref="HGNC:2041"
                     /db_xref="MIM:300520"
                     /translation="

MASLGLQLVGYILGLLGLLGTLVAMLLPSWKTSSYVGASIVTAVGFSKGLWMECATHSTGITQCDIYSTLLGLPADIQAAQAMMVTSSAISSLACIISVVGMRCTVFCQESRAKDRVAVAGGVFFILGGLLGFIPVAWNLHGILRDFYSPLVPDSMKFEIGEALYLGIISSLFSLIAGIILCFSCSSQRNRSNYYDAYQAQPLATRSSPRPGQPPKVKSEFNSYSLTGYV

"
     misc_feature    541..603
                     /gene="CLDN2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P57739.1);
                     transmembrane region"
     misc_feature    607..1062
                     /gene="CLDN2"
                     /note="PMP-22/EMP/MP20/Claudin family; Region:
                     PMP22_Claudin; cl15797"
                     /db_xref="CDD:210197"
     misc_feature    763..825
                     /gene="CLDN2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P57739.1);
                     transmembrane region"
     misc_feature    868..930
                     /gene="CLDN2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P57739.1);
                     transmembrane region"
     misc_feature    1006..1068
                     /gene="CLDN2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P57739.1);
                     transmembrane region"
     misc_feature    1204..1209
                     /gene="CLDN2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P57739.1);
                     Region: Interactions with TJP1, TJP2 and TJP3 (By
                     similarity)"
     STS             700..928
                     /gene="CLDN2"
                     /standard_name="CLDN2"
                     /db_xref="UniSTS:498200"
     STS             1171..1933
                     /gene="CLDN2"
                     /standard_name="CLDN2_2269"
                     /db_xref="UniSTS:280505"
     polyA_signal    3132..3137
                     /gene="CLDN2"
     polyA_site      3152
                     /gene="CLDN2"
ORIGIN

cccagagcaagccgattctctacacactgccttcccttcctgtaagactcatcaaaaaggcaccccaaccttgcatggatctgctgttggtattccttggggtgaagccagaagtcaggctttccacagagagacgggactacatggccacctgggaaggctagggagtcaaagggcctgaggaatgactacttccctccacaagggcattccctgccctgctctgcttcctgggggcttcagcaagccttccttctagagctcctagaaccctcccatggtcaacacaacagcagcccagacaatgagatgcaagaggcctgagctcacaggccattcaggtcttctagatgccttcttgaggctgcttgtggccacccacagacacttgtaaggaggagagaagtcagcctggcagagagactctgaaatgagggattagaggtgttcaaggagcaagagcttcagcctgaagacaagggagcagtccctgaagacgcttctactgagaggtctgccatggcctctcttggcctccaacttgtgggctacatcctaggccttctggggcttttgggcacactggttgccatgctgctccccagctggaaaacaagttcttatgtcggtgccagcattgtgacagcagttggcttctccaagggcctctggatggaatgtgccacacacagcacaggcatcacccagtgtgacatctatagcacccttctgggcctgcccgctgacatccaggctgcccaggccatgatggtgacatccagtgcaatctcctccctggcctgcattatctctgtggtgggcatgagatgcacagtcttctgccaggaatcccgagccaaagacagagtggcggtagcaggtggagtctttttcatccttggaggcctcctgggattcattcctgttgcctggaatcttcatgggatcctacgggacttctactcaccactggtgcctgacagcatgaaatttgagattggagaggctctttacttgggcattatttcttccctgttctccctgatagctggaatcatcctctgcttttcctgctcatcccagagaaatcgctccaactactacgatgcctaccaagcccaacctcttgccacaaggagctctccaaggcctggtcaacctcccaaagtcaagagtgagttcaattcctacagcctgacagggtatgtgtgaagaaccaggggccagagctggggggtggctgggtctgtgaaaaacagtggacagcaccccgagggccacaggtgagggacactaccactggatcgtgtcagaaggtgctgctgaggatagactgactttggccattggattgagcaaaggcagaaatgggggctagtgtaacagcatgcaggttgaattgccaaggatgctcgccatgccagcctttctgttttcctcaccttgctgctcccctgccctaagtccccaaccctcaacttgaaaccccattcccttaagccaggactcagaggatccctttgccctctggtttacctgggactccatccccaaacccactaatcacatcccactgactgaccctctgtgatcaaagaccctctctctggctgaggttggctcttagctcattgctggggatgggaaggagaagcagtggcttttgtgggcattgctctaacctacttctcaagcttccctccaaagaaactgattggccctggaacctccatcccactcttgttatgactccacagtgtccagactaatttgtgcatgaactgaaataaaaccatcctacggtatccagggaacagaaagcaggatgcaggatgggaggacaggaaggcagcctgggacatttaaaaaaataaaaatgaaaaaaaaacccagaacccatttctcagggcactttccagaattctctcatatttgtgggctgggatcaagcctgcagcttgaggaaagcacaaggaaaggaaagaagatctggtggaaagctcaggtggcagcggactctgactccactgaggaactgcctcagaagctgcgatcacaactttggctgaagcccctgcctcactctagggcacctgacctggcctcttgcctaaaccacaaggctaagggctatagacaatggtttccttaggaacagtaaaccagtttttctagggatggcccttggctgggggatgacagtgtgggagctgtggggtactgaggaagacaccattccttgacggtgtctaagaagccaggtggatgtgtgtggtggctccagtgggtgtttctactctgccagtgagaggcagccccctagaaactcttcaggcgtaatggaaaatcagctcaaatgagatcaggcccccccagggtccacccacagagcactacagagcctctgaaagaccatagcaccaagcgagccccttcagattcccccactgtccatcggaagatgctccagagtggctagagggcatctaagggctccagcatggcatatccatgcccacggtgctgtgtccatgatctgagtgatagctgcactgctgcctgggattgcagctgaggtgggagtggagaatggttcccaggaagacagttccacctctaaggtccgaaaatgttccctttaccctggagtgggagtgaggggtcatacaccaaaggtattttccctcaccagtctaggcatgactggcttctgaaaaattccagcacacctcctcgaacctcattgtcagcagagagggcccatctgttgtctgtaacatgcctttcacatgtccaccttcttgccatgttccagctgctctcccaacctggaaggccgtctccccttagccaagtcctcctcaggcttggagaacttcctcagcgtcacctccttcattgagccttctctgatcactccatccctctcctacccctccctcccccaaccctcaatgtataaattgcttcttgatgcttagcattcacaatttttgattgatcgttatttgtgtgtgtgtgtccgatctcacaagtatattgtaaacccttcggtgggtgggggccatatcctagacctctctgtatcccccagactatctgtaacagtgccaggcacacagtaggtgatcaataaacacttgttgattgagaaaaaaaaaaa

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