LOCUS       NM_001305               1846 bp    mRNA    linear   PRI 15-JUL-2013
DEFINITION  Homo sapiens claudin 4 (CLDN4), mRNA.
ACCESSION   NM_001305
VERSION     NM_001305.3  GI:34335232
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 1846)
  AUTHORS   Ordonez,N.G.
  TITLE     Value of claudin-4 immunostaining in the diagnosis of mesothelioma
  JOURNAL   Am. J. Clin. Pathol. 139 (5), 611-619 (2013)
   PUBMED   23596113
  REMARK    GeneRIF: Claudin-4 is a highly specific and sensitive
            immunohistochemical marker for assisting in distinguishing
            epithelioid mesotheliomas from metastatic carcinomas to the serosal
            membranes.
REFERENCE   2  (bases 1 to 1846)
  AUTHORS   Mikolajczyk,M., Wirstlein,P. and Skrzypczak,J.
  TITLE     Aberrant claudin-4 transcript levels in eutopic endometrium of
            women with idiopathic infertility and minimal endometriosis
  JOURNAL   Ginekol. Pol. 84 (2), 90-94 (2013)
   PUBMED   23668053
  REMARK    GeneRIF: Exceedingly high levels of CLDN4 might negatively
            influence fertility rates.
REFERENCE   3  (bases 1 to 1846)
  AUTHORS   Webb,P.G., Spillman,M.A. and Baumgartner,H.K.
  TITLE     Claudins play a role in normal and tumor cell motility
  JOURNAL   BMC Cell Biol. 14, 19 (2013)
   PUBMED   23521713
  REMARK    GeneRIF: Knockdown of claudin-4 inhibited cell motility and the
            mimic peptide had no effect on motility in the claudin-4 knockdown
            cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1846)
  AUTHORS   Xiao-Yu,P., Yan,J., Cui-Ping,F., Ya-Nan,W., Hua,L. and Hua-Jun,L.
  TITLE     Altered claudin-4 expression in progesterone-treated endometrial
            adenocarcinoma cell line Ishikawa
  JOURNAL   Int. J. Gynecol. Cancer 22 (9), 1585-1590 (2012)
   PUBMED   23095775
  REMARK    GeneRIF: Altered claudin-4 expression in progesterone-treated
            endometrial adenocarcinoma cell line Ishikawa.
REFERENCE   5  (bases 1 to 1846)
  AUTHORS   Shang,X., Lin,X., Alvarez,E., Manorek,G. and Howell,S.B.
  TITLE     Tight junction proteins claudin-3 and claudin-4 control tumor
            growth and metastases
  JOURNAL   Neoplasia 14 (10), 974-985 (2012)
   PUBMED   23097631
  REMARK    GeneRIF: High CLDN4 expression is associated with tumor growth and
            metastases.
REFERENCE   6  (bases 1 to 1846)
  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   7  (bases 1 to 1846)
  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   8  (bases 1 to 1846)
  AUTHORS   Paperna,T., Peoples,R., Wang,Y.K., Kaplan,P. and Francke,U.
  TITLE     Genes for the CPE receptor (CPETR1) and the human homolog of RVP1
            (CPETR2) are localized within the Williams-Beuren syndrome deletion
  JOURNAL   Genomics 54 (3), 453-459 (1998)
   PUBMED   9878248
REFERENCE   9  (bases 1 to 1846)
  AUTHORS   Katahira,J., Sugiyama,H., Inoue,N., Horiguchi,Y., Matsuda,M. and
            Sugimoto,N.
  TITLE     Clostridium perfringens enterotoxin utilizes two structurally
            related membrane proteins as functional receptors in vivo
  JOURNAL   J. Biol. Chem. 272 (42), 26652-26658 (1997)
   PUBMED   9334247
REFERENCE   10 (bases 1 to 1846)
  AUTHORS   Katahira,J., Inoue,N., Horiguchi,Y., Matsuda,M. and Sugimoto,N.
  TITLE     Molecular cloning and functional characterization of the receptor
            for Clostridium perfringens enterotoxin
  JOURNAL   J. Cell Biol. 136 (6), 1239-1247 (1997)
   PUBMED   9087440
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC000671.2 and BM768799.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 29, 2003 this sequence version replaced gi:14790131.
            
            Summary: This gene encodes an integral membrane protein, which
            belongs to the claudin family. The protein is a component of tight
            junction strands and may play a role in internal organ development
            and function during pre- and postnatal life. This gene is deleted
            in Williams-Beuren syndrome, a neurodevelopmental disorder
            affecting multiple systems. [provided by RefSeq, Jul 2008].
            
            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 :: BC000671.2 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1846
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..1846
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
                     /note="claudin 4"
                     /db_xref="GeneID:1364"
                     /db_xref="HGNC:2046"
                     /db_xref="HPRD:04218"
                     /db_xref="MIM:602909"
     exon            1..1823
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
                     /inference="alignment:Splign:1.39.8"
     STS             234..374
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
                     /standard_name="G62015"
                     /db_xref="UniSTS:139093"
     misc_feature    334..336
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
                     /note="upstream in-frame stop codon"
     CDS             340..969
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
                     /note="Clostridium perfringens enterotoxin receptor 1;
                     Williams-Beuren syndrome chromosomal region 8 protein;
                     CPE-receptor"
                     /codon_start=1
                     /product="claudin-4"
                     /protein_id="NP_001296.1"
                     /db_xref="GI:4502877"
                     /db_xref="CCDS:CCDS5560.1"
                     /db_xref="GeneID:1364"
                     /db_xref="HGNC:2046"
                     /db_xref="HPRD:04218"
                     /db_xref="MIM:602909"
                     /translation="

MASMGLQVMGIALAVLGWLAVMLCCALPMWRVTAFIGSNIVTSQTIWEGLWMNCVVQSTGQMQCKVYDSLLALPQDLQAARALVIISIIVAALGVLLSVVGGKCTNCLEDESAKAKTMIVAGVVFLLAGLMVIVPVSWTAHNIIQDFYNPLVASGQKREMGASLYVGWAASGLLLLGGGLLCCNCPPRTDKPYSAKYSAARSAAASNYV

"
     misc_feature    340..648
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O14493.1);
                     Region: Interaction with EPHA2"
     misc_feature    349..849
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
                     /note="PMP-22/EMP/MP20/Claudin family; Region:
                     PMP22_Claudin; cl15797"
                     /db_xref="CDD:210197"
     misc_feature    361..423
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O14493.1);
                     transmembrane region"
     misc_feature    583..645
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O14493.1);
                     transmembrane region"
     misc_feature    691..753
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O14493.1);
                     transmembrane region"
     misc_feature    820..882
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O14493.1);
                     transmembrane region"
     misc_feature    961..966
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O14493.1);
                     Region: Interactions with TJP1, TJP2 and TJP3 (By
                     similarity)"
     misc_feature    961..963
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphotyrosine, by EPHA2; propagated from
                     UniProtKB/Swiss-Prot (O14493.1); phosphorylation site"
     STS             537..1016
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
                     /standard_name="D7S3296"
                     /db_xref="UniSTS:254195"
     variation       complement(706)
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34646484"
     STS             1646..1783
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
                     /standard_name="A007I02"
                     /db_xref="UniSTS:20515"
     polyA_signal    1800..1805
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
     polyA_site      1822
                     /gene="CLDN4"
                     /gene_synonym="CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8"
ORIGIN      

aaaagtgcctttgttggcctgggctcaggaatccagagaaactggtcaggaggaggccccagtgacaaaaacccctccctctgcccccgcccctctgccagagccatataactgctcaacctgtccccgagagagagtgccctggcagctgtcggctggaaggaactggtctgctcacacttgctggcttgcgcatcaggactggctttatctcctgactcacggtgcaaaggtgcactctgcgaacgttaagtccgtccccagcgcttggaatcctacggcccccacagccggatcccctcagccttccaggtcctcaactcccgtggacgctgaacaatggcctccatggggctacaggtaatgggcatcgcgctggccgtcctgggctggctggccgtcatgctgtgctgcgcgctgcccatgtggcgcgtgacggccttcatcggcagcaacattgtcacctcgcagaccatctgggagggcctatggatgaactgcgtggtgcagagcaccggccagatgcagtgcaaggtgtacgactcgctgctggcactgccgcaggacctgcaggcggcccgcgccctcgtcatcatcagcatcatcgtggctgctctgggcgtgctgctgtccgtggtggggggcaagtgtaccaactgcctggaggatgaaagcgccaaggccaagaccatgatcgtggcgggcgtggtgttcctgttggccggccttatggtgatagtgccggtgtcctggacggcccacaacatcatccaagacttctacaatccgctggtggcctccgggcagaagcgggagatgggtgcctcgctctacgtcggctgggccgcctccggcctgctgctccttggcggggggctgctttgctgcaactgtccaccccgcacagacaagccttactccgccaagtattctgctgcccgctctgctgctgccagcaactacgtgtaaggtgccacggctccactctgttcctctctgctttgttcttccctggactgagctcagcgcaggctgtgaccccaggagggccctgccacgggccactggctgctggggactggggactgggcagagactgagccaggcaggaaggcagcagccttcagcctctctggcccactcggacaacttcccaaggccgcctcctgctagcaagaacagagtccaccctcctctggatattggggagggacggaagtgacagggtgtggtggtggagtggggagctggcttctgctggccaggatagcttaaccctgactttgggatctgcctgcatcggcgttggccactgtccccatttacattttccccactctgtctgcctgcatctcctctgttccgggtaggccttgatatcacctctgggactgtgccttgctcaccgaaacccgcgcccaggagtatggctgaggccttgcccacccacctgcctgggaagtgcagagtggatggacgggtttagaggggaggggcgaaggtgctgtaaacaggtttgggcagtggtgggggagggggccagagaggcggctcaggttgcccagctctgtggcctcaggactctctgcctcacccgcttcagcccagggcccctggagactgatcccctctgagtcctctgccccttccaaggacactaatgagcctgggagggtggcagggaggaggggacagcttcacccttggaagtcctggggtttttcctcttccttctttgtggtttctgttttgtaatttaagaagagctattcatcactgtaattattattattttctacaataaatgggacctgtgcacaggaaaaaaaaaaaaaaaaaaaaaaaa

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:1364 -> Molecular function: GO:0004888 [transmembrane signaling receptor activity] evidence: TAS
            GeneID:1364 -> Molecular function: GO:0005198 [structural molecule activity] evidence: IEA
            GeneID:1364 -> Molecular function: GO:0042802 [identical protein binding] evidence: ISS
            GeneID:1364 -> Biological process: GO:0007565 [female pregnancy] evidence: IEA
            GeneID:1364 -> Biological process: GO:0016338 [calcium-independent cell-cell adhesion] evidence: ISS
            GeneID:1364 -> Biological process: GO:0032570 [response to progesterone stimulus] evidence: IEA
            GeneID:1364 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
            GeneID:1364 -> Cellular component: GO:0005887 [integral to plasma membrane] evidence: TAS
            GeneID:1364 -> Cellular component: GO:0005923 [tight junction] evidence: ISS
            GeneID:1364 -> Cellular component: GO:0009925 [basal plasma membrane] evidence: IEA
            GeneID:1364 -> Cellular component: GO:0016324 [apical plasma membrane] evidence: IEA
            GeneID:1364 -> Cellular component: GO:0016327 [apicolateral plasma membrane] evidence: IEA
            GeneID:1364 -> Cellular component: GO:0016328 [lateral plasma membrane] evidence: IEA