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2024-04-19 23:42:28, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_020982 2139 bp mRNA linear PRI 24-MAR-2013 DEFINITION Homo sapiens claudin 9 (CLDN9), mRNA. ACCESSION NM_020982 XM_001715692 VERSION NM_020982.3 GI:226342874 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 2139) 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 2 (bases 1 to 2139) AUTHORS Rendon-Huerta,E., Teresa,F., Teresa,G.M., Xochitl,G.S., Georgina,A.F., Veronica,Z.Z. and Montano,L.F. TITLE Distribution and expression pattern of claudins 6, 7, and 9 in diffuse- and intestinal-type gastric adenocarcinomas JOURNAL J Gastrointest Cancer 41 (1), 52-59 (2010) PUBMED 19960275 REMARK GeneRIF: Claudins 6, 7, and 9 expressions are closely related to gastric carcinogenesis. REFERENCE 3 (bases 1 to 2139) AUTHORS Hosgood,H.D. III, Zhang,L., Shen,M., Berndt,S.I., Vermeulen,R., Li,G., Yin,S., Yeager,M., Yuenger,J., Rothman,N., Chanock,S., Smith,M. and Lan,Q. TITLE Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity JOURNAL Occup Environ Med 66 (12), 848-853 (2009) PUBMED 19773279 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (bases 1 to 2139) AUTHORS Nakano,Y., Kim,S.H., Kim,H.M., Sanneman,J.D., Zhang,Y., Smith,R.J., Marcus,D.C., Wangemann,P., Nessler,R.A. and Banfi,B. TITLE A claudin-9-based ion permeability barrier is essential for hearing JOURNAL PLoS Genet. 5 (8), E1000610 (2009) PUBMED 19696885 REMARK GeneRIF: Mouse studies suggest that claudin-9 deficiency may cause hearing loss not only in mice but also in humans. REFERENCE 5 (bases 1 to 2139) AUTHORS Lal-Nag,M. and Morin,P.J. TITLE The claudins JOURNAL Genome Biol. 10 (8), 235 (2009) PUBMED 19706201 REMARK Review article REFERENCE 6 (bases 1 to 2139) AUTHORS Tsukita,S., Furuse,M. and Itoh,M. TITLE Multifunctional strands in tight junctions JOURNAL Nat. Rev. Mol. Cell Biol. 2 (4), 285-293 (2001) PUBMED 11283726 REMARK Review article REFERENCE 7 (bases 1 to 2139) 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 8 (bases 1 to 2139) AUTHORS Yi,X., Wang,Y. and Yu,F.S. TITLE Corneal epithelial tight junctions and their response to lipopolysaccharide challenge JOURNAL Invest. Ophthalmol. Vis. Sci. 41 (13), 4093-4100 (2000) PUBMED 11095601 REFERENCE 9 (bases 1 to 2139) 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 10 (bases 1 to 2139) 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 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK091002.1, AC108134.3, BC051870.1 and AI791760.1. On or before Apr 4, 2009 this sequence version replaced gi:169209658, gi:44680149. 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, and also play critical roles in maintaining cell polarity and signal transductions. This protein is one of the entry cofactors for hepatitis C virus. Mouse studies revealed that this gene is required for the preservation of sensory cells in the hearing organ and the gene deficiency is associated with deafness. [provided by RefSeq, Jun 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. COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-96 AK091002.1 1-96 97-97 AC108134.3 24076-24076 98-1237 AK091002.1 98-1237 1238-1603 BC051870.1 903-1268 1604-1917 AI791760.1 162-475 1918-2139 BC051870.1 1583-1804 FEATURES Location/Qualifiers source 1..2139 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16p13.3" gene 1..2139 /gene="CLDN9" /note="claudin 9" /db_xref="GeneID:9080" /db_xref="HGNC:2051" /db_xref="HPRD:13071" exon 1..2050 /gene="CLDN9" /inference="alignment:Splign:1.39.8" variation 50 /gene="CLDN9" /replace="a" /replace="c" /db_xref="dbSNP:148600881" variation 76 /gene="CLDN9" /replace="c" /replace="t" /db_xref="dbSNP:143284936" variation 97 /gene="CLDN9" /replace="a" /replace="g" /db_xref="dbSNP:2231605" variation 105 /gene="CLDN9" /replace="a" /replace="g" /db_xref="dbSNP:201496900" variation 192 /gene="CLDN9" /replace="c" /replace="t" /db_xref="dbSNP:2231606" variation 255 /gene="CLDN9" /replace="g" /replace="t" /db_xref="dbSNP:146688835" variation 397 /gene="CLDN9" /replace="a" /replace="g" /db_xref="dbSNP:377654796" variation 466 /gene="CLDN9" /replace="a" /replace="g" /db_xref="dbSNP:189534646" variation 554 /gene="CLDN9" /replace="c" /replace="t" /db_xref="dbSNP:371122842" variation 648 /gene="CLDN9" /replace="a" /replace="g" /db_xref="dbSNP:180735534" variation 689 /gene="CLDN9" /replace="g" /replace="t" /db_xref="dbSNP:2231607" variation 693 /gene="CLDN9" /replace="g" /replace="t" /db_xref="dbSNP:2231608" variation 807 /gene="CLDN9" /replace="c" /replace="t" /db_xref="dbSNP:371752851" variation 808 /gene="CLDN9" /replace="c" /replace="t" /db_xref="dbSNP:2227269" variation 818 /gene="CLDN9" /replace="g" /replace="t" /db_xref="dbSNP:60420127" variation 866 /gene="CLDN9" /replace="c" /replace="t" /db_xref="dbSNP:374414759" variation 874 /gene="CLDN9" /replace="a" /replace="g" /db_xref="dbSNP:199830559" misc_feature 893..895 /gene="CLDN9" /note="upstream in-frame stop codon" CDS 908..1561 /gene="CLDN9" /codon_start=1 /product="claudin-9" /protein_id="NP_066192.1" /db_xref="GI:11141861" /db_xref="CCDS:CCDS10487.1" /db_xref="GeneID:9080" /db_xref="HGNC:2051" /db_xref="HPRD:13071" /translation="
MASTGLELLGMTLAVLGWLGTLVSCALPLWKVTAFIGNSIVVAQVVWEGLWMSCVVQSTGQMQCKVYDSLLALPQDLQAARALCVIALLLALLGLLVAITGAQCTTCVEDEGAKARIVLTAGVILLLAGILVLIPVCWTAHAIIQDFYNPLVAEALKRELGASLYLGWAAAALLMLGGGLLCCTCPPPQVERPRGPRLGYSIPSRSGASGLDKRDYV
"
misc_feature 917..>1105
/gene="CLDN9"
/note="PMP-22/EMP/MP20/Claudin family; Region:
PMP22_Claudin; cl15797"
/db_xref="CDD:210197"
misc_feature 929..991
/gene="CLDN9"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O95484.1);
transmembrane region"
misc_feature 1151..1213
/gene="CLDN9"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O95484.1);
transmembrane region"
misc_feature 1256..1318
/gene="CLDN9"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O95484.1);
transmembrane region"
misc_feature 1385..1447
/gene="CLDN9"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O95484.1);
transmembrane region"
misc_feature 1505..1507
/gene="CLDN9"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
variation 915
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:144730563"
variation 916
/gene="CLDN9"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:151195275"
variation 936
/gene="CLDN9"
/replace="g"
/replace="t"
/db_xref="dbSNP:140410599"
variation 940
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:374429657"
variation 967
/gene="CLDN9"
/replace="c"
/replace="g"
/db_xref="dbSNP:114794799"
variation 982
/gene="CLDN9"
/replace="c"
/replace="g"
/db_xref="dbSNP:368045321"
variation 1009
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:61743246"
variation 1015
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:200336281"
variation 1027
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:145786872"
variation 1028
/gene="CLDN9"
/replace="g"
/replace="t"
/db_xref="dbSNP:145882247"
variation 1051
/gene="CLDN9"
/replace="c"
/replace="g"
/db_xref="dbSNP:138697130"
variation 1065
/gene="CLDN9"
/replace="a"
/replace="c"
/db_xref="dbSNP:201252752"
variation 1070
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:142749972"
variation 1084
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:372231955"
variation 1085
/gene="CLDN9"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:202102733"
variation 1108
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:374973139"
variation 1127
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:147520555"
variation 1128
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:77321442"
variation 1129
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:151129127"
variation 1148
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:375644575"
variation 1163
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:201203260"
variation 1164
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:372118474"
variation 1178
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:374545504"
variation 1187
/gene="CLDN9"
/replace="c"
/replace="g"
/db_xref="dbSNP:200358793"
variation 1196
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:142023644"
variation 1208
/gene="CLDN9"
/replace="g"
/replace="t"
/db_xref="dbSNP:150685719"
variation 1221
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:200382778"
variation 1225
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:139700351"
variation 1226
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:199692917"
variation 1227
/gene="CLDN9"
/replace="g"
/replace="t"
/db_xref="dbSNP:141101134"
variation 1237
/gene="CLDN9"
/replace="c"
/replace="g"
/db_xref="dbSNP:199855287"
variation 1242
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:143546941"
variation 1253
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:34769999"
variation 1254
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:377171800"
variation 1269
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:201542121"
variation 1275
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:374173952"
variation 1288
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:139651598"
variation 1289
/gene="CLDN9"
/replace="c"
/replace="g"
/db_xref="dbSNP:144284714"
variation 1291
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:370621968"
variation 1294
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:145578676"
variation 1310
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:199515582"
variation 1313
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:200666691"
variation 1320
/gene="CLDN9"
/replace="g"
/replace="t"
/db_xref="dbSNP:148868713"
variation 1326
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:142704650"
variation 1327
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:376804391"
variation 1330
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:150998619"
STS 1336..2048
/gene="CLDN9"
/standard_name="CLDN9_3192.2"
/db_xref="UniSTS:468037"
variation 1343
/gene="CLDN9"
/replace="g"
/replace="t"
/db_xref="dbSNP:374569945"
variation 1351
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:141963379"
variation 1414
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:145815517"
variation 1417
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:371180602"
variation 1439
/gene="CLDN9"
/replace="g"
/replace="t"
/db_xref="dbSNP:374732646"
variation 1459
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:200866651"
variation 1481
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:200152104"
variation 1482
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:369508377"
variation 1488
/gene="CLDN9"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:199530650"
variation 1489
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:377693985"
variation 1496
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:201829414"
variation 1499
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:371263252"
variation 1525
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:376311434"
variation 1529
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:376124691"
variation 1556
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:370499404"
variation 1591
/gene="CLDN9"
/replace="a"
/replace="t"
/db_xref="dbSNP:373894955"
variation 1604
/gene="CLDN9"
/replace="a"
/replace="g"
/db_xref="dbSNP:150261223"
variation 1708
/gene="CLDN9"
/replace="a"
/replace="c"
/db_xref="dbSNP:11643248"
variation 1834
/gene="CLDN9"
/replace="c"
/replace="t"
/db_xref="dbSNP:138731299"
ORIGIN
cagattccagagagtcccaggcgggcgggagtgtgcgatactcggggagctggggcatgtttgcatcacgaaactcggctgggggagagcagaggcagctggggaggggctgcggaaggaggaggctcaggaaggcaagccgacgccccctgtgtgtgtttctgtcctgagcctgttacttttttgacccccgatccgtctcttcttcctcagcttgtcctccatcttcccctcctttacccttggttcccacatgcacagatgctacggacgcttttcctcccctgtccccactcagccgcagcatcccccgctggcccccaggcccctcatccatccgctgcccacgaacccccagccccgcaccctccccgtggctcaggtctcccctatcccggcctccctgcacttcactctgctcctcccctgcctgggccttaaaaccccgcctgcagccgagagcccgcagagtccccaggtggcactgtcagagtcgctcagtgggaacctgcgccagccggcaggagacgtggctgtcctcagcctggcagtgcgtctggagggcctgtgcgagctcagcccaggtgtgacagcggggtggtaagagcagcagcaccctcagggcatccgatgggcggaggcccctcgaggtgacacccaccactcagccgagcgggactacgagtctgctttgtgctccgcgaggaccagaaacacctgcaagaggcacggagaggaggcgcctttcaagaggcgcctttcatggaactgaggactggcctggcttggggacaccaacaagccttccccctcctgctggacacagagacacccacccagcacaccagacacaccctctgagtcacctaggccgcctggggctgagaagacctaaccgaggggccagatggcttcgaccggcttagaactgctgggcatgaccctggctgtgctgggctggctggggaccctggtgtcctgcgccctgcccctgtggaaggtgaccgccttcatcggcaacagcatcgtggtggcccaggtggtgtgggagggcctgtggatgtcctgcgtggtgcagagcacgggccagatgcagtgcaaggtgtacgactcactgctggctctgccgcaggacctgcaggccgcacgtgccctctgtgtcattgccctcctgctggccctgcttggcctcctggtggccatcacaggtgcccagtgtaccacgtgtgtggaggacgaaggtgccaaggcccgtatcgtgctcaccgcgggggtcatcctcctcctcgccggcatcctggtgctcatccctgtgtgctggacggcgcacgccatcatccaggacttctacaaccccctggtggctgaggccctcaagcgggagctgggggcctccctctacctgggctgggcggcggctgcactgcttatgctgggcggggggctcctctgctgcacgtgccccccgccccaggtcgagcggccccgcggacctcggctgggctactccatcccctcccgctcgggtgcatctggactggacaagagggactacgtgtgaggcggaggtttcccctgggagcccactgctccccactgccccgccctttcgaccttggcctgatgaccagatgccctgctccatcacaacctccttccccaggaaaacccactttccaaaagcccaagctacacctggctgcagggctgggtcagctggcctggctgagctcttctcagtggggtcccctttgatgttctcccccaagttgggcagcctagaggtgttgggaaccctggcctgcccccacctccccagtaattgtttccttccgttgcccaggacactggctggccttccttctcttctgagccctcccctgccccaggaaccctggcctcaccaaaacagcagcagctcgttggctccaaaaccagggagcagaccatgccctcccaaccctggagttgtcagggagggcctgcccatcacctccctctccccaacatccccaccctcgagttggaaataaagagcatttgtaactggaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:9080 -> Molecular function: GO:0005198 [structural molecule activity] evidence: IEA
GeneID:9080 -> Molecular function: GO:0042802 [identical protein binding] evidence: ISS
GeneID:9080 -> Biological process: GO:0016338 [calcium-independent cell-cell adhesion] evidence: ISS
GeneID:9080 -> Biological process: GO:0034329 [cell junction assembly] evidence: TAS
GeneID:9080 -> Biological process: GO:0045216 [cell-cell junction organization] evidence: TAS
GeneID:9080 -> Biological process: GO:0070830 [tight junction assembly] evidence: TAS
GeneID:9080 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
GeneID:9080 -> Cellular component: GO:0005923 [tight junction] evidence: ISS
GeneID:9080 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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