2025-05-12 01:31:24, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_012129 3641 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens claudin 12 (CLDN12), transcript variant 3, mRNA. ACCESSION NM_012129 VERSION NM_012129.4 GI:313851094 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 3641) AUTHORS Ouban,A. and Ahmed,A.A. TITLE Claudins in human cancer: a review JOURNAL Histol. Histopathol. 25 (1), 83-90 (2010) PUBMED 19924644 REMARK Review article REFERENCE 2 (bases 1 to 3641) AUTHORS Lal-Nag,M. and Morin,P.J. TITLE The claudins JOURNAL Genome Biol. 10 (8), 235 (2009) PUBMED 19706201 REMARK Review article REFERENCE 3 (bases 1 to 3641) AUTHORS Fujita,H., Sugimoto,K., Inatomi,S., Maeda,T., Osanai,M., Uchiyama,Y., Yamamoto,Y., Wada,T., Kojima,T., Yokozaki,H., Yamashita,T., Kato,S., Sawada,N. and Chiba,H. TITLE Tight junction proteins claudin-2 and -12 are critical for vitamin D-dependent Ca2+ absorption between enterocytes JOURNAL Mol. Biol. Cell 19 (5), 1912-1921 (2008) PUBMED 18287530 REMARK GeneRIF: These findings strongly suggest that claudin-2- and/or claudin-12-based tight junctions form paracellular Ca(2+) channels in intestinal epithelia, and they highlight a novel mechanism behind vitamin D-dependent calcium homeostasis. REFERENCE 4 (bases 1 to 3641) AUTHORS Krause,G., Winkler,L., Mueller,S.L., Haseloff,R.F., Piontek,J. and Blasig,I.E. TITLE Structure and function of claudins JOURNAL Biochim. Biophys. Acta 1778 (3), 631-645 (2008) PUBMED 18036336 REMARK Review article REFERENCE 5 (bases 1 to 3641) AUTHORS Denoeud,F., Kapranov,P., Ucla,C., Frankish,A., Castelo,R., Drenkow,J., Lagarde,J., Alioto,T., Manzano,C., Chrast,J., Dike,S., Wyss,C., Henrichsen,C.N., Holroyd,N., Dickson,M.C., Taylor,R., Hance,Z., Foissac,S., Myers,R.M., Rogers,J., Hubbard,T., Harrow,J., Guigo,R., Gingeras,T.R., Antonarakis,S.E. and Reymond,A. TITLE Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions JOURNAL Genome Res. 17 (6), 746-759 (2007) PUBMED 17567994 REFERENCE 6 (bases 1 to 3641) AUTHORS Kiuchi-Saishin,Y., Gotoh,S., Furuse,M., Takasuga,A., Tano,Y. and Tsukita,S. TITLE Differential expression patterns of claudins, tight junction membrane proteins, in mouse nephron segments JOURNAL J. Am. Soc. Nephrol. 13 (4), 875-886 (2002) PUBMED 11912246 REFERENCE 7 (bases 1 to 3641) AUTHORS Niimi,T., Nagashima,K., Ward,J.M., Minoo,P., Zimonjic,D.B., Popescu,N.C. and Kimura,S. TITLE claudin-18, a novel downstream target gene for the T/EBP/NKX2.1 homeodomain transcription factor, encodes lung- and stomach-specific isoforms through alternative splicing JOURNAL Mol. Cell. Biol. 21 (21), 7380-7390 (2001) PUBMED 11585919 REFERENCE 8 (bases 1 to 3641) 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 9 (bases 1 to 3641) 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 10 (bases 1 to 3641) 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 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB062973.1, BC068532.1, BC036754.2 and AL136770.1. On Dec 10, 2010 this sequence version replaced gi:297374756. 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 gene is expressed in the inner ear and bladder epithelium, and it is over-expressed in colorectal carcinomas. This protein and claudin 2 are critical for vitamin D-dependent Ca2+ absorption between enterocytes. Multiple alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, Sep 2011]. Transcript Variant: This variant (3) lacks an exon 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 :: BC068532.1, CK000579.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025082, ERS025083 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-114 DB062973.1 1-114 115-1334 BC068532.1 1-1220 1335-1652 BC036754.2 1124-1441 1653-2767 BC068532.1 1539-2653 2768-3641 AL136770.1 2620-3493 FEATURES Location/Qualifiers source 1..3641 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="7" /map="7q21" gene 1..3641 /gene="CLDN12" /note="claudin 12" /db_xref="GeneID:9069" /db_xref="HGNC:2034" /db_xref="HPRD:13064" /db_xref="MIM:611232" exon 1..216 /gene="CLDN12" /inference="alignment:Splign:1.39.8" variation 26 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:28947516" variation 81 /gene="CLDN12" /replace="a" /replace="c" /db_xref="dbSNP:138201646" variation 144 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:370765493" variation 161 /gene="CLDN12" /replace="a" /replace="c" /db_xref="dbSNP:143733597" exon 217..306 /gene="CLDN12" /inference="alignment:Splign:1.39.8" variation 233 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:116804658" variation 301 /gene="CLDN12" /replace="c" /replace="g" /db_xref="dbSNP:185475099" exon 307..3617 /gene="CLDN12" /inference="alignment:Splign:1.39.8" misc_feature 313..315 /gene="CLDN12" /note="upstream in-frame stop codon" CDS 340..1074 /gene="CLDN12" /codon_start=1 /product="claudin-12" /protein_id="NP_036261.1" /db_xref="GI:6912312" /db_xref="CCDS:CCDS5618.1" /db_xref="GeneID:9069" /db_xref="HGNC:2034" /db_xref="HPRD:13064" /db_xref="MIM:611232" /translation="
MGCRDVHAATVLSFLCGIASVAGLFAGTLLPNWRKLRLITFNRNEKNLTVYTGLWVKCARYDGSSDCLMYDTTWYSSVDQLDLRVLQFALPLSMLIAMGALLLCLIGMCNTAFRSSVPNIKLAKCLVNSAGCHLVAGLLFFLAGTVSLSPSIWVIFYNIHLNKKFEPVFSFDYAVYVTIASAGGLFMTSLILFIWYCTCKSLPSPFWQPLYSHPPSMHTYSQPYSARSRLSAIEIDIPVVSHTT
" misc_feature 370..432 /gene="CLDN12" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P56749.1); transmembrane region" misc_feature 601..663 /gene="CLDN12" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P56749.1); transmembrane region" misc_feature 745..807 /gene="CLDN12" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P56749.1); transmembrane region" misc_feature 862..924 /gene="CLDN12" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P56749.1); transmembrane region" misc_feature 1030..1032 /gene="CLDN12" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P56749.1); phosphorylation site" variation 350 /gene="CLDN12" /replace="g" /replace="t" /db_xref="dbSNP:200372770" variation 351 /gene="CLDN12" /replace="g" /replace="t" /db_xref="dbSNP:201163165" variation 393 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:374340236" STS 428..672 /gene="CLDN12" /standard_name="REN107123" /db_xref="UniSTS:431920" variation 471 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:140108357" variation 517 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:367561054" variation 521 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:371660301" variation 525 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:17862175" variation 526 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:200164858" variation 549 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:185427290" variation 550 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:368401578" variation 566 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:372373015" variation 570 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:200281270" variation 631 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:76988207" STS 652..888 /gene="CLDN12" /standard_name="REN107124" /db_xref="UniSTS:431921" variation 654 /gene="CLDN12" /replace="g" /replace="t" /db_xref="dbSNP:79632494" variation 687 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:34378679" variation 695 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:370065476" variation 696 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:373294317" variation 704 /gene="CLDN12" /replace="a" /replace="t" /db_xref="dbSNP:146056566" variation 812 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:139669349" STS 832..1084 /gene="CLDN12" /standard_name="REN107125" /db_xref="UniSTS:431922" variation 892 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:149798695" variation 933 /gene="CLDN12" /replace="a" /replace="t" /db_xref="dbSNP:148668482" variation 939 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:142157384" STS 949..1849 /gene="CLDN12" /standard_name="ECD00552" /db_xref="UniSTS:281662" variation 986 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:376598671" variation 1006 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:189780617" variation 1015 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:147857522" variation 1018 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:141430153" STS 1061..1304 /gene="CLDN12" /standard_name="REN107126" /db_xref="UniSTS:431923" variation 1082 /gene="CLDN12" /replace="a" /replace="t" /db_xref="dbSNP:374720515" variation 1097 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:375989620" variation 1106 /gene="CLDN12" /replace="a" /replace="c" /db_xref="dbSNP:182726869" variation 1114 /gene="CLDN12" /replace="c" /replace="g" /db_xref="dbSNP:147269114" variation 1156 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:140861444" variation 1206 /gene="CLDN12" /replace="a" /replace="c" /db_xref="dbSNP:3810874" variation 1213 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:187870115" STS 1268..1492 /gene="CLDN12" /standard_name="REN107127" /db_xref="UniSTS:431924" STS 1332..2381 /gene="CLDN12" /standard_name="stSG614603" /db_xref="UniSTS:450490" variation 1339 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:191882778" STS 1381..1635 /gene="CLDN12" /standard_name="REN107128" /db_xref="UniSTS:431925" variation 1445 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:183250663" variation 1451 /gene="CLDN12" /replace="a" /replace="t" /db_xref="dbSNP:17865130" variation 1531 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:1017104" STS 1630..1863 /gene="CLDN12" /standard_name="REN107129" /db_xref="UniSTS:431926" variation 1653 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:1017105" variation 1663 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:1017106" variation 1733 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:374000239" STS 1834..2084 /gene="CLDN12" /standard_name="REN107130" /db_xref="UniSTS:431927" STS 1886..2782 /gene="CLDN12" /standard_name="ECD00648" /db_xref="UniSTS:281757" variation 1890 /gene="CLDN12" /replace="g" /replace="t" /db_xref="dbSNP:376739855" variation 2001 /gene="CLDN12" /replace="" /replace="a" /db_xref="dbSNP:140787647" variation 2026 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:193147106" STS 2076..2331 /gene="CLDN12" /standard_name="REN107131" /db_xref="UniSTS:431928" variation 2214 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:142246998" variation 2218 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:11563542" STS 2317..2580 /gene="CLDN12" /standard_name="REN107132" /db_xref="UniSTS:431929" variation 2320 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:151249770" STS 2362..3483 /gene="CLDN12" /standard_name="stSG614604" /db_xref="UniSTS:450491" variation 2497 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:17861306" variation 2511 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:34833025" STS 2579..2848 /gene="CLDN12" /standard_name="REN107133" /db_xref="UniSTS:431930" variation 2672 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:17867644" STS 2823..3069 /gene="CLDN12" /standard_name="REN107134" /db_xref="UniSTS:431931" variation 2906..2907 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:1048881" variation 2948 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:184613376" variation 2991 /gene="CLDN12" /replace="g" /replace="t" /db_xref="dbSNP:1048883" STS 3038..3310 /gene="CLDN12" /standard_name="REN107135" /db_xref="UniSTS:431932" STS 3110..3294 /gene="CLDN12" /standard_name="RH65832" /db_xref="UniSTS:43176" variation 3159 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:186714887" variation 3187 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:191175070" variation 3212 /gene="CLDN12" /replace="a" /replace="t" /db_xref="dbSNP:370567033" STS 3257..3484 /gene="CLDN12" /standard_name="REN107136" /db_xref="UniSTS:431933" variation 3294 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:9731" STS 3332..3483 /gene="CLDN12" /standard_name="RH47948" /db_xref="UniSTS:37396" variation 3449 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:17863096" variation 3576 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:184005906" variation 3602 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:17866176" ORIGIN
aggatgttgcctgcggctggcggcccagtggattctgggaattgtagtcccagccatccagggcattgccgttcagggccacgggaaaacctgactgcgctcccagaagcctccggtgtacctcgctgggaacgcacttcctgggacgctgagagggagacgctccaagaggctcctcagtgtgggcgagtaaaatgccctgcgtgtgagaagcaggctcagattattgctactctgtattcagatcttcatgtgtctcttctaagctgaataaagctgttttggaactgtcaggtacctcaaagctctgactgacagtactccacaagcttgcctgccatgggctgtcgggatgtccacgcagccacagtcctttccttcctgtgtggaatcgcctcagtagcaggcctctttgcagggactctgcttcccaactggagaaaattacgattgatcacattcaacagaaacgagaagaacctgactgtttacacaggcctgtgggtgaaatgtgcccggtatgacgggagcagtgactgcctgatgtacgacactacttggtactcatcagttgaccagctggacctgcgtgtcctccagtttgccctacccctcagcatgctgatcgccatgggtgccctgctgctctgcctgattggaatgtgcaacactgccttcaggtcctcggtgcccaacatcaaactggccaagtgtctggtcaatagtgcaggttgccacctggtggctgggctgctatttttcctggcaggtactgtgagcctctccccatctatctgggtcatcttttataacatccatctgaacaagaagtttgagccagtcttttcatttgactatgcagtgtatgtcactattgctagtgctgggggcctgtttatgacttcccttatactatttatttggtattgtacatgcaaatctttgccttctcctttctggcaaccattgtactcccatccacccagtatgcatacttactcacagccctattcagcacgctctcgcctctctgccattgaaattgacattccagtagtttcacacaccacttaatggggaaatagttaattgttaaagaaaacttcttgtagcctcacattccccttgtgcaaagagctcttttggacctacatacattttcctttgtttttgaccaatcaatgaagccaaatttatatgtcctagtagaatgaagtgctgctagtttttatgagaagtatattatattaaatgtgaattttttaaattttgcttcttatactggaaggaattttagccttcatattgatatctaattaattatttaagtggaagaggcctgcatcacaattgaggtaatgtagagcaacatgttaaagaatgatggttagcagaagctgttgtatacaatcttcatgaaaatttcagtgtgtatttttctttttctataatacctttaactgcaaagaaaaggcagtttcaaatataagaaatttatttcaggtaagggtaatattttaatagtagtcaataatctagcttaaggctgtaactcttctatcggggctaattgtatgaataggtgtcagtatgttgaagattactttcttttgtgactttcttctacctcatgccactgtttaaaagtaaaacgtattttaatgatgttagaataagactaccattctaaatatcacctacttatgaataacatgtaataatttttaacattaatgattccataaattgtattattgggattagaatgtgctttatgacaggttagtgtttcctctgaggcagaaaactcttttttggagatatcttccatcaagcagtactcgtgcccatatacaatctcttagtggctaggagaaataaataaaagggccataatggtttgttctctttcagacataatttagtaggggacaagaagtctgttcttcagtgagtacactagagatttactctggtgactgccttttgagttatgggtgaagtaaggtatggctttaccataaccttgattcattcacccttgattcatttctcgcccccgtcactgattatttccttgagcatatatctctgcctaacactttagtaggtgctatagaggatacatgaaaagtatgagatctggttccatccagtaagacattttaatagagaagatcaaaatgttacctggcagttggggaataatctgacttcgttggcagttggccttaacttcttaatcattgatccaggaatatttcaaccagagacacaactttctggcagacagacaaattgtacaacaccaacaatatcctggaccttgaaattctgtttacttcagtccattgtatcctttaaggcacctgtgctagcctagattttgtaataacactgatttatgagaatggacaaaagtggtagggaaattgttccctctccacttctgaaagtatgatgatgtattaaggatggaggagttattaaaaatgtctcttctgatgaggtaacaattagatgaaaccatgttaaagctgagatgaacacttagaaattcagggatattgggtctttagccttatgaatttgagctgcttatttaattggtgtaatttactacatattagtactatattcgtaaggattttttattaaccattacagattttacaaacagctagttatatggtaaacagattattatgcctttttgcaattctgaatatgattctagtatttgtgtagatgtatttggtactttttcccctaattccaacactagtttatatatatagcgaataaatctagttgtataaatttttaaatgccgtcagtagaaagcacacaaggttatgatttttttaattactggcttctgatttctttcacttctgatccttttcctttttctcagatgtagctgagtcttgatcattttaagacaacgatgggtagaattttgagattaatgttaattttccctttttgttaatttcagtcccctctcactatgcttttgtccagaaggatcaagaattctaccatcccttgggtctttgtgtataaacaatgttaaataaaggtagactcagtctttaagatattagacagtttttttagtccatgggattgtaaatataaacattaactttcctataagaatattttggctttgtaatctatagcctcaaattggtatttattatggattcactagacaaacagctgtttccttattgtcttttttctttagtgtttctgatttgctatcagtagctgtttttaaagccgtccaaggaaaataattatttacagtttttgaagtcacttttgagccctcatcaagctctcattgtgatgggagggatacctttttgttgttaaaagcctattattgttaaaggccttttatggaaaccaacttggaaaacaaccttaaatgtggatgtatcagatttggtttatccagccatgggagagaaaacaaacctaagtttactttacttgtacatatacactacaatggatagtatatttgctgtaaactacaatgtaaaacctcaataaaagtgcgctgtacttcttaatgtttattaaaagatgtatttttacaaaaaaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:9069 -> Molecular function: GO:0005198 [structural molecule activity] evidence: IEA GeneID:9069 -> Molecular function: GO:0042802 [identical protein binding] evidence: ISS GeneID:9069 -> Biological process: GO:0016338 [calcium-independent cell-cell adhesion] evidence: ISS GeneID:9069 -> Biological process: GO:0034329 [cell junction assembly] evidence: TAS GeneID:9069 -> Biological process: GO:0045216 [cell-cell junction organization] evidence: TAS GeneID:9069 -> Biological process: GO:0070830 [tight junction assembly] evidence: TAS GeneID:9069 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA GeneID:9069 -> Cellular component: GO:0005923 [tight junction] evidence: ISS GeneID:9069 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
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