GGRNA | NM_003277.3

LOCUS       NM_003277               1720 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens claudin 5 (CLDN5), transcript variant 2, mRNA.
ACCESSION   NM_003277
VERSION     NM_003277.3  GI:195947371
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 1720)
  AUTHORS   Herr,D., Fraser,H.M., Konrad,R., Holzheu,I., Kreienberg,R. and
            Wulff,C.
  TITLE     Human chorionic gonadotropin controls luteal vascular permeability
            via vascular endothelial growth factor by down-regulation of a
            cascade of adhesion proteins
  JOURNAL   Fertil. Steril. 99 (6), 1749-1758 (2013)
   PUBMED   23465821
  REMARK    GeneRIF: Chorionic gonadotropin induces VEGFA-dependent
            downregulation of claudin 5, which increases the endothelial
            permeability in the coculture system.
REFERENCE   2  (bases 1 to 1720)
  AUTHORS   Kluger,M.S., Clark,P.R., Tellides,G., Gerke,V. and Pober,J.S.
  TITLE     Claudin-5 controls intercellular barriers of human dermal
            microvascular but not human umbilical vein endothelial cells
  JOURNAL   Arterioscler. Thromb. Vasc. Biol. 33 (3), 489-500 (2013)
   PUBMED   23288152
  REMARK    GeneRIF: Claudin-5 expression and junctional organization controls
            intercellular barriers of human dermal microvascular but not human
            umbilical vein endothelial cells.
REFERENCE   3  (bases 1 to 1720)
  AUTHORS   Hara,H.
  TITLE     Endoglin (CD105) and claudin-5 expression in cutaneous angiosarcoma
  JOURNAL   Am J Dermatopathol 34 (7), 779-782 (2012)
   PUBMED   23000880
  REMARK    GeneRIF: Letter: confirm the endothelial cell origin of cutaneous
            angiosarcoma and demonstrate that both endoglin and claudin-5 show
            promise as markers for cutaneous angiosarcoma.
REFERENCE   4  (bases 1 to 1720)
  AUTHORS   Sanders,Y.Y., Ambalavanan,N., Halloran,B., Zhang,X., Liu,H.,
            Crossman,D.K., Bray,M., Zhang,K., Thannickal,V.J. and Hagood,J.S.
  TITLE     Altered DNA methylation profile in idiopathic pulmonary fibrosis
  JOURNAL   Am. J. Respir. Crit. Care Med. 186 (6), 525-535 (2012)
   PUBMED   22700861
  REMARK    GeneRIF: CLDN5 gene DNA meyhylation suggesting the pathogenesis of
            idiopathic pulmonary fibrosis.
REFERENCE   5  (bases 1 to 1720)
  AUTHORS   Armstrong,S.M., Wang,C., Tigdi,J., Si,X., Dumpit,C., Charles,S.,
            Gamage,A., Moraes,T.J. and Lee,W.L.
  TITLE     Influenza infects lung microvascular endothelium leading to
            microvascular leak: role of apoptosis and claudin-5
  JOURNAL   PLoS ONE 7 (10), E47323 (2012)
   PUBMED   23115643
  REMARK    GeneRIF: Over-expression of claudin-5 was sufficient to prevent
            replication-deficient virus-induced permeability
REFERENCE   6  (bases 1 to 1720)
  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   7  (bases 1 to 1720)
  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   8  (bases 1 to 1720)
  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   9  (bases 1 to 1720)
  AUTHORS   Peacock,R.E., Keen,T.J. and Inglehearn,C.F.
  TITLE     Analysis of a human gene homologous to rat ventral prostate.1
            protein
  JOURNAL   Genomics 46 (3), 443-449 (1997)
   PUBMED   9441748
REFERENCE   10 (bases 1 to 1720)
  AUTHORS   Sirotkin,H., Morrow,B., Saint-Jore,B., Puech,A., Das Gupta,R.,
            Patanjali,S.R., Skoultchi,A., Weissman,S.M. and Kucherlapati,R.
  TITLE     Identification, characterization, and precise mapping of a human
            gene encoding a novel membrane-spanning protein from the 22q11
            region deleted in velo-cardio-facial syndrome
  JOURNAL   Genomics 42 (2), 245-251 (1997)
   PUBMED   9192844
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB023636.1, AK092561.1 and
            BU688528.1.
            On Aug 7, 2008 this sequence version replaced gi:38570041.
            
            Summary: This gene encodes a member of the claudin family. Claudins
            are integral membrane proteins and components of tight junction
            strands. Tight junction strands serve as a physical barrier to
            prevent solutes and water from passing freely through the
            paracellular space between epithelial or endothelial cell sheets.
            Mutations in this gene have been found in patients with
            velocardiofacial syndrome. Alternatively spliced transcript
            variants encoding the same protein have been found for this gene.
            [provided by RefSeq, Aug 2008].
            
            Transcript Variant: This variant (2) lacks a segment in the 5' UTR,
            as compared to variant 1.
            
            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 :: CB993999.1, BX382073.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025082 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-542               DB023636.1         1-542
            543-1699            AK092561.1         1155-2311
            1700-1720           BU688528.1         1-21                c
FEATURES             Location/Qualifiers
     source          1..1720
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..1720
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /note="claudin 5"
                     /db_xref="GeneID:7122"
                     /db_xref="HGNC:2047"
                     /db_xref="MIM:602101"
     exon            1..183
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    171..173
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /note="upstream in-frame stop codon"
     exon            184..1702
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /inference="alignment:Splign:1.39.8"
     CDS             216..1127
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /note="transmembrane protein deleted in velocardiofacial
                     syndrome; TMDVCF; transmembrane protein deleted in VCFS"
                     /codon_start=1
                     /product="claudin-5"
                     /protein_id="NP_003268.2"
                     /db_xref="GI:195947372"
                     /db_xref="CCDS:CCDS13763.2"
                     /db_xref="GeneID:7122"
                     /db_xref="HGNC:2047"
                     /db_xref="MIM:602101"
                     /translation="

MTRARIGCFGPGGRARGTESAPEPSKRVPPGRSWQTQEVRQTRGANGLGPRAGSAGAKAPGPAQGAAQHGLGGSAGLRVRVSPLAMGSAALEILGLVLCLVGWGGLILACGLPMWQVTAFLDHNIVTAQTTWKGLWMSCVVQSTGHMQCKVYDSVLALSTEVQAARALTVSAVLLAFVALFVTLAGAQCTTCVAPGPAKARVALTGGVLYLFCGLLALVPLCWFANIVVREFYDPSVPVSQKYELGAALYIGWAATALLMVGGCLLCCGAWVCTGRPDLSFPVKYSAPRRPTATGDYDKKNYV

"
     misc_feature    <600..980
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /note="PMP-22/EMP/MP20/Claudin family; Region:
                     PMP22_Claudin; cl15797"
                     /db_xref="CDD:210197"
     variation       381
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11551254"
     STS             501..617
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /standard_name="D22S1668"
                     /db_xref="UniSTS:474045"
     variation       617
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1053613"
     variation       773
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34379045"
     variation       797
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11551255"
     variation       1514
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1053640"
     variation       1521
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1053641"
     STS             1524..1680
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /standard_name="A006E34"
                     /db_xref="UniSTS:60692"
     variation       1531
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:10314"
     STS             1563..1681
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /standard_name="D22S983E"
                     /db_xref="UniSTS:35519"
     variation       1633
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1053666"
     variation       1647
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1053675"
     polyA_site      1699
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
     polyA_site      1702
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMVCF"
ORIGIN

gtctctcctgtctgaaggccagagcaggctgctaggcctggggccaccactgcccctgggtgctacacccagtgtgctgggtcactgggaacttcctgaagtggtgtcacctgaactgggcccccaaggatggggtgcgggcagtaccgcaggaagaggagcagcccctgtgaagattgagagctgccagaggctctgtgattggctgcggcacgatgacccgcgcacggattggctgcttcgggccggggggccgggcccgggggacagaatccgcccccgaaccttcaaagagggtaccccccggcaggagctggcagacccaggaggtgcgacagacccgcggggcaaacggactggggccaagagccgggagcgcgggcgcaaaggcaccagggcccgcccagggcgccgcgcagcacggccttgggggttctgcgggccttcgggtgcgcgtctcgcctctagccatggggtccgcagcgttggagatcctgggcctggtgctgtgcctggtgggctgggggggtctgatcctggcgtgcgggctgcccatgtggcaggtgaccgccttcctggaccacaacatcgtgacggcgcagaccacctggaaggggctgtggatgtcgtgcgtggtgcagagcaccgggcacatgcagtgcaaagtgtacgactcggtgctggctctgagcaccgaggtgcaggcggcgcgggcgctcaccgtgagcgccgtgctgctggcgttcgttgcgctcttcgtgaccctggcgggcgcgcagtgcaccacctgcgtggccccgggcccggccaaggcgcgtgtggccctcacgggaggcgtgctctacctgttttgcgggctgctggcgctcgtgccactctgctggttcgccaacattgtcgtccgcgagttttacgacccgtctgtgcccgtgtcgcagaagtacgagctgggcgcagcgctgtacatcggctgggcggccaccgcgctgctcatggtaggcggctgcctcttgtgctgcggcgcctgggtctgcaccggccgtcccgacctcagcttccccgtgaagtactcagcgccgcggcggcccacggccaccggcgactacgacaagaagaactacgtctgagggcgctgggcacggccgggcccctcctgccagccacgcctgcgaggcgttggataagcctggggagccccgcatggaccgcggcttccgccgggtagcgcggcgcgcaggctcctcggaacgtccggctctgcgccccgacgcggctcctggatccgctcctgcctgcgcccgcagctgaccttctcctgccactagcccggccctgcccttaacagacggaatgaagtttccttttctgtgcgcggcgctgtttccataggcagagcgggtgtcagactgaggatttcgcttcccctccaagacgctgggggtcttggctgctgccttacttcccagaggctcctgctgacttcggaggggcggatgcagagcccagggcccccaccggaagatgtgtacagctggtctttactccatcggcagggcccgagcccagggaccagtgacttggcctggacctcccggtctcactccagcatctccccaggcaaggcttgtgggcaccggagcttgagagagggcgggagtgggaaggctaagaatctgcttagtaaatggtttgaactctctccaaaaaaaaaaaaaaaaaa

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