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2025-05-12 02:01:18, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001171095 2932 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens claudin 2 (CLDN2), transcript variant 3, mRNA. ACCESSION NM_001171095 VERSION NM_001171095.1 GI:283806633 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 2932) 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 2932) 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 2932) 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 2932) 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 2932) 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 2932) 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 2932) 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 2932) 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 2932) 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 2932) 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 AK312515.1, 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 (3) 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 :: AK312515.1, DA396340.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-981 AK312515.1 1-981 982-2484 AK075405.1 1020-2522 2485-2932 AA973123.1 1-448 c FEATURES Location/Qualifiers source 1..2932 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /map="Xq22.3-q23" gene 1..2932 /gene="CLDN2" /note="claudin 2" /db_xref="GeneID:9075" /db_xref="HGNC:2041" /db_xref="MIM:300520" exon 1..110 /gene="CLDN2" /inference="alignment:Splign:1.39.8" variation 22 /gene="CLDN2" /replace="a" /replace="g" /db_xref="dbSNP:191327348" variation 75 /gene="CLDN2" /replace="c" /replace="g" /db_xref="dbSNP:140408996" exon 111..2921 /gene="CLDN2" /inference="alignment:Splign:1.39.8" variation 156 /gene="CLDN2" /replace="a" /replace="g" /db_xref="dbSNP:113920114" variation 189 /gene="CLDN2" /replace="a" /replace="g" /db_xref="dbSNP:183323379" misc_feature 196..198 /gene="CLDN2" /note="upstream in-frame stop codon" CDS 289..981 /gene="CLDN2" /note="SP82" /codon_start=1 /product="claudin-2" /protein_id="NP_001164566.1" /db_xref="GI:283806634" /db_xref="CCDS:CCDS14524.1" /db_xref="GeneID:9075" /db_xref="HGNC:2041" /db_xref="MIM:300520" /translation="
MASLGLQLVGYILGLLGLLGTLVAMLLPSWKTSSYVGASIVTAVGFSKGLWMECATHSTGITQCDIYSTLLGLPADIQAAQAMMVTSSAISSLACIISVVGMRCTVFCQESRAKDRVAVAGGVFFILGGLLGFIPVAWNLHGILRDFYSPLVPDSMKFEIGEALYLGIISSLFSLIAGIILCFSCSSQRNRSNYYDAYQAQPLATRSSPRPGQPPKVKSEFNSYSLTGYV
"
misc_feature 310..372
/gene="CLDN2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P57739.1);
transmembrane region"
misc_feature 376..831
/gene="CLDN2"
/note="PMP-22/EMP/MP20/Claudin family; Region:
PMP22_Claudin; cl15797"
/db_xref="CDD:210197"
misc_feature 532..594
/gene="CLDN2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P57739.1);
transmembrane region"
misc_feature 637..699
/gene="CLDN2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P57739.1);
transmembrane region"
misc_feature 775..837
/gene="CLDN2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P57739.1);
transmembrane region"
misc_feature 973..978
/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)"
variation 344
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:151003816"
variation 350
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:375239457"
variation 375
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141147283"
STS 469..697
/gene="CLDN2"
/standard_name="CLDN2"
/db_xref="UniSTS:498200"
variation 489
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:144975285"
variation 510
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369821153"
variation 511
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138837133"
variation 543
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199729528"
variation 716
/gene="CLDN2"
/replace="a"
/replace="t"
/db_xref="dbSNP:373340705"
variation 722
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200980922"
variation 750
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140513089"
variation 761
/gene="CLDN2"
/replace="a"
/replace="t"
/db_xref="dbSNP:150418351"
variation 848
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:377500294"
variation 860
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138227214"
variation 874
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371377414"
variation 876
/gene="CLDN2"
/replace="g"
/replace="t"
/db_xref="dbSNP:200850588"
variation 903
/gene="CLDN2"
/replace="a"
/replace="c"
/db_xref="dbSNP:149607136"
variation 934
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144353049"
STS 940..1702
/gene="CLDN2"
/standard_name="CLDN2_2269"
/db_xref="UniSTS:280505"
variation 989
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199803730"
variation 1138
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374633456"
variation 1144
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:191880523"
variation 1206
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376522492"
variation 1242
/gene="CLDN2"
/replace="a"
/replace="c"
/db_xref="dbSNP:200371519"
variation 1283
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:16987204"
variation 1349
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:183625207"
variation 1641
/gene="CLDN2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1128218"
variation 1712
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:41309528"
variation 1760..1761
/gene="CLDN2"
/replace=""
/replace="g"
/db_xref="dbSNP:200233084"
variation 1856
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:7883582"
variation 1995
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:187325704"
variation 2007
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:73533029"
variation 2031
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:192635116"
variation 2146
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:184610738"
variation 2171
/gene="CLDN2"
/replace="a"
/replace="c"
/db_xref="dbSNP:147829672"
variation 2196
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:141297568"
variation 2289
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145166443"
variation 2441
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373807733"
variation 2451
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:186720703"
variation 2520
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201099546"
variation 2604
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:192199825"
variation 2739
/gene="CLDN2"
/replace="a"
/replace="c"
/db_xref="dbSNP:147588227"
variation 2767
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:367974655"
polyA_signal 2901..2906
/gene="CLDN2"
polyA_site 2921
/gene="CLDN2"
ORIGIN
aggcatggctgcccttttagcgtgtcccagcctgccaagagggagtgccctggagagacccttgctcaggagcactgccaggggatcagtgccccatttgtacctgcaaggtcttctagatgccttcttgaggctgcttgtggccacccacagacacttgtaaggaggagagaagtcagcctggcagagagactctgaaatgagggattagaggtgttcaaggagcaagagcttcagcctgaagacaagggagcagtccctgaagacgcttctactgagaggtctgccatggcctctcttggcctccaacttgtgggctacatcctaggccttctggggcttttgggcacactggttgccatgctgctccccagctggaaaacaagttcttatgtcggtgccagcattgtgacagcagttggcttctccaagggcctctggatggaatgtgccacacacagcacaggcatcacccagtgtgacatctatagcacccttctgggcctgcccgctgacatccaggctgcccaggccatgatggtgacatccagtgcaatctcctccctggcctgcattatctctgtggtgggcatgagatgcacagtcttctgccaggaatcccgagccaaagacagagtggcggtagcaggtggagtctttttcatccttggaggcctcctgggattcattcctgttgcctggaatcttcatgggatcctacgggacttctactcaccactggtgcctgacagcatgaaatttgagattggagaggctctttacttgggcattatttcttccctgttctccctgatagctggaatcatcctctgcttttcctgctcatcccagagaaatcgctccaactactacgatgcctaccaagcccaacctcttgccacaaggagctctccaaggcctggtcaacctcccaaagtcaagagtgagttcaattcctacagcctgacagggtatgtgtgaagaaccaggggccagagctggggggtggctgggtctgtgaaaaacagtggacagcaccccgagggccacaggtgagggacactaccactggatcgtgtcagaaggtgctgctgaggatagactgactttggccattggattgagcaaaggcagaaatgggggctagtgtaacagcatgcaggttgaattgccaaggatgctcgccatgccagcctttctgttttcctcaccttgctgctcccctgccctaagtccccaaccctcaacttgaaaccccattcccttaagccaggactcagaggatccctttgccctctggtttacctgggactccatccccaaacccactaatcacatcccactgactgaccctctgtgatcaaagaccctctctctggctgaggttggctcttagctcattgctggggatgggaaggagaagcagtggcttttgtgggcattgctctaacctacttctcaagcttccctccaaagaaactgattggccctggaacctccatcccactcttgttatgactccacagtgtccagactaatttgtgcatgaactgaaataaaaccatcctacggtatccagggaacagaaagcaggatgcaggatgggaggacaggaaggcagcctgggacatttaaaaaaataaaaatgaaaaaaaaacccagaacccatttctcagggcactttccagaattctctcatatttgtgggctgggatcaagcctgcagcttgaggaaagcacaaggaaaggaaagaagatctggtggaaagctcaggtggcagcggactctgactccactgaggaactgcctcagaagctgcgatcacaactttggctgaagcccctgcctcactctagggcacctgacctggcctcttgcctaaaccacaaggctaagggctatagacaatggtttccttaggaacagtaaaccagtttttctagggatggcccttggctgggggatgacagtgtgggagctgtggggtactgaggaagacaccattccttgacggtgtctaagaagccaggtggatgtgtgtggtggctccagtgggtgtttctactctgccagtgagaggcagccccctagaaactcttcaggcgtaatggaaaatcagctcaaatgagatcaggcccccccagggtccacccacagagcactacagagcctctgaaagaccatagcaccaagcgagccccttcagattcccccactgtccatcggaagatgctccagagtggctagagggcatctaagggctccagcatggcatatccatgcccacggtgctgtgtccatgatctgagtgatagctgcactgctgcctgggattgcagctgaggtgggagtggagaatggttcccaggaagacagttccacctctaaggtccgaaaatgttccctttaccctggagtgggagtgaggggtcatacaccaaaggtattttccctcaccagtctaggcatgactggcttctgaaaaattccagcacacctcctcgaacctcattgtcagcagagagggcccatctgttgtctgtaacatgcctttcacatgtccaccttcttgccatgttccagctgctctcccaacctggaaggccgtctccccttagccaagtcctcctcaggcttggagaacttcctcagcgtcacctccttcattgagccttctctgatcactccatccctctcctacccctccctcccccaaccctcaatgtataaattgcttcttgatgcttagcattcacaatttttgattgatcgttatttgtgtgtgtgtgtccgatctcacaagtatattgtaaacccttcggtgggtgggggccatatcctagacctctctgtatcccccagactatctgtaacagtgccaggcacacagtaggtgatcaataaacacttgttgattgagaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:9075 -> Molecular function: GO:0005198 [structural molecule activity] evidence: IEA
GeneID:9075 -> Molecular function: GO:0042802 [identical protein binding] evidence: ISS
GeneID:9075 -> Biological process: GO:0016338 [calcium-independent cell-cell adhesion] evidence: ISS
GeneID:9075 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
GeneID:9075 -> Cellular component: GO:0005923 [tight junction] evidence: ISS
GeneID:9075 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
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