2025-05-12 01:48:58, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001185072 3684 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens claudin 12 (CLDN12), transcript variant 1, mRNA. ACCESSION NM_001185072 VERSION NM_001185072.2 GI:313760613 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 3684) 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 3684) 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 3684) 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 3684) 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 3684) 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 3684) 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 3684) 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 3684) 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 3684) 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 3684) 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, AK312480.1, BC036754.2, BC068532.1 and AL136770.1. On Dec 9, 2010 this sequence version replaced gi:297374757. 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 (1) is the longest transcript. 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 :: AK312480.1, DA224259.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025088 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-115 DB062973.1 1-115 116-857 AK312480.1 1-742 858-1695 BC036754.2 604-1441 1696-2810 BC068532.1 1539-2653 2811-3684 AL136770.1 2620-3493 FEATURES Location/Qualifiers source 1..3684 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="7" /map="7q21" gene 1..3684 /gene="CLDN12" /note="claudin 12" /db_xref="GeneID:9069" /db_xref="HGNC:2034" /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..349 /gene="CLDN12" /inference="alignment:Splign:1.39.8" exon 350..3660 /gene="CLDN12" /inference="alignment:Splign:1.39.8" misc_feature 356..358 /gene="CLDN12" /note="upstream in-frame stop codon" CDS 383..1117 /gene="CLDN12" /codon_start=1 /product="claudin-12" /protein_id="NP_001172001.1" /db_xref="GI:297374758" /db_xref="CCDS:CCDS5618.1" /db_xref="GeneID:9069" /db_xref="HGNC:2034" /db_xref="MIM:611232" /translation="
MGCRDVHAATVLSFLCGIASVAGLFAGTLLPNWRKLRLITFNRNEKNLTVYTGLWVKCARYDGSSDCLMYDTTWYSSVDQLDLRVLQFALPLSMLIAMGALLLCLIGMCNTAFRSSVPNIKLAKCLVNSAGCHLVAGLLFFLAGTVSLSPSIWVIFYNIHLNKKFEPVFSFDYAVYVTIASAGGLFMTSLILFIWYCTCKSLPSPFWQPLYSHPPSMHTYSQPYSARSRLSAIEIDIPVVSHTT
" misc_feature 413..475 /gene="CLDN12" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P56749.1); transmembrane region" misc_feature 644..706 /gene="CLDN12" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P56749.1); transmembrane region" misc_feature 788..850 /gene="CLDN12" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P56749.1); transmembrane region" misc_feature 905..967 /gene="CLDN12" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P56749.1); transmembrane region" misc_feature 1073..1075 /gene="CLDN12" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P56749.1); phosphorylation site" variation 393 /gene="CLDN12" /replace="g" /replace="t" /db_xref="dbSNP:200372770" variation 394 /gene="CLDN12" /replace="g" /replace="t" /db_xref="dbSNP:201163165" variation 436 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:374340236" STS 471..715 /gene="CLDN12" /standard_name="REN107123" /db_xref="UniSTS:431920" variation 514 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:140108357" variation 560 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:367561054" variation 564 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:371660301" variation 568 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:17862175" variation 569 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:200164858" variation 592 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:185427290" variation 593 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:368401578" variation 609 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:372373015" variation 613 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:200281270" variation 674 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:76988207" STS 695..931 /gene="CLDN12" /standard_name="REN107124" /db_xref="UniSTS:431921" variation 697 /gene="CLDN12" /replace="g" /replace="t" /db_xref="dbSNP:79632494" variation 730 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:34378679" variation 738 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:370065476" variation 739 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:373294317" variation 747 /gene="CLDN12" /replace="a" /replace="t" /db_xref="dbSNP:146056566" variation 855 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:139669349" STS 875..1127 /gene="CLDN12" /standard_name="REN107125" /db_xref="UniSTS:431922" variation 935 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:149798695" variation 976 /gene="CLDN12" /replace="a" /replace="t" /db_xref="dbSNP:148668482" variation 982 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:142157384" STS 992..1892 /gene="CLDN12" /standard_name="ECD00552" /db_xref="UniSTS:281662" variation 1029 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:376598671" variation 1049 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:189780617" variation 1058 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:147857522" variation 1061 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:141430153" STS 1104..1347 /gene="CLDN12" /standard_name="REN107126" /db_xref="UniSTS:431923" variation 1125 /gene="CLDN12" /replace="a" /replace="t" /db_xref="dbSNP:374720515" variation 1140 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:375989620" variation 1149 /gene="CLDN12" /replace="a" /replace="c" /db_xref="dbSNP:182726869" variation 1157 /gene="CLDN12" /replace="c" /replace="g" /db_xref="dbSNP:147269114" variation 1199 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:140861444" variation 1249 /gene="CLDN12" /replace="a" /replace="c" /db_xref="dbSNP:3810874" variation 1256 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:187870115" STS 1311..1535 /gene="CLDN12" /standard_name="REN107127" /db_xref="UniSTS:431924" STS 1375..2424 /gene="CLDN12" /standard_name="stSG614603" /db_xref="UniSTS:450490" variation 1382 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:191882778" STS 1424..1678 /gene="CLDN12" /standard_name="REN107128" /db_xref="UniSTS:431925" variation 1488 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:183250663" variation 1494 /gene="CLDN12" /replace="a" /replace="t" /db_xref="dbSNP:17865130" variation 1574 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:1017104" STS 1673..1906 /gene="CLDN12" /standard_name="REN107129" /db_xref="UniSTS:431926" variation 1696 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:1017105" variation 1706 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:1017106" variation 1776 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:374000239" STS 1877..2127 /gene="CLDN12" /standard_name="REN107130" /db_xref="UniSTS:431927" STS 1929..2825 /gene="CLDN12" /standard_name="ECD00648" /db_xref="UniSTS:281757" variation 1933 /gene="CLDN12" /replace="g" /replace="t" /db_xref="dbSNP:376739855" variation 2044 /gene="CLDN12" /replace="" /replace="a" /db_xref="dbSNP:140787647" variation 2069 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:193147106" STS 2119..2374 /gene="CLDN12" /standard_name="REN107131" /db_xref="UniSTS:431928" variation 2257 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:142246998" variation 2261 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:11563542" STS 2360..2623 /gene="CLDN12" /standard_name="REN107132" /db_xref="UniSTS:431929" variation 2363 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:151249770" STS 2405..3526 /gene="CLDN12" /standard_name="stSG614604" /db_xref="UniSTS:450491" variation 2540 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:17861306" variation 2554 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:34833025" STS 2622..2891 /gene="CLDN12" /standard_name="REN107133" /db_xref="UniSTS:431930" variation 2715 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:17867644" STS 2866..3112 /gene="CLDN12" /standard_name="REN107134" /db_xref="UniSTS:431931" variation 2949..2950 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:1048881" variation 2991 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:184613376" variation 3034 /gene="CLDN12" /replace="g" /replace="t" /db_xref="dbSNP:1048883" STS 3081..3353 /gene="CLDN12" /standard_name="REN107135" /db_xref="UniSTS:431932" STS 3153..3337 /gene="CLDN12" /standard_name="RH65832" /db_xref="UniSTS:43176" variation 3202 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:186714887" variation 3230 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:191175070" variation 3255 /gene="CLDN12" /replace="a" /replace="t" /db_xref="dbSNP:370567033" STS 3300..3527 /gene="CLDN12" /standard_name="REN107136" /db_xref="UniSTS:431933" variation 3337 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:9731" STS 3375..3526 /gene="CLDN12" /standard_name="RH47948" /db_xref="UniSTS:37396" variation 3492 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:17863096" variation 3619 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:184005906" variation 3645 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:17866176" ORIGIN
aggatgttgcctgcggctggcggcccagtggattctgggaattgtagtcccagccatccagggcattgccgttcagggccacgggaaaacctgactgcgctcccagaagcctccggtgtacctcgctgggaacgcacttcctgggacgctgagagggagacgctccaagaggctcctcagtgtgggcgagtaaaatgccctgcgtgtgagaagcaggctcagattattgctactctgtattcagatcttcatgtgtctcttctaagctgaataaagctgttttggaactgtcaggtacctcaaagcatgaagaaaacgaggcacagggaagttctgaatctggcccaagtctgactgacagtactccacaagcttgcctgccatgggctgtcgggatgtccacgcagccacagtcctttccttcctgtgtggaatcgcctcagtagcaggcctctttgcagggactctgcttcccaactggagaaaattacgattgatcacattcaacagaaacgagaagaacctgactgtttacacaggcctgtgggtgaaatgtgcccggtatgacgggagcagtgactgcctgatgtacgacactacttggtactcatcagttgaccagctggacctgcgtgtcctccagtttgccctacccctcagcatgctgatcgccatgggtgccctgctgctctgcctgattggaatgtgcaacactgccttcaggtcctcggtgcccaacatcaaactggccaagtgtctggtcaatagtgcaggttgccacctggtggctgggctgctatttttcctggcaggtactgtgagcctctccccatctatctgggtcatcttttataacatccatctgaacaagaagtttgagccagtcttttcatttgactatgcagtgtatgtcactattgctagtgctgggggcctgtttatgacttcccttatactatttatttggtattgtacatgcaaatctttgccttctcctttctggcaaccattgtactcccatccacccagtatgcatacttactcacagccctattcagcacgctctcgcctctctgccattgaaattgacattccagtagtttcacacaccacttaatggggaaatagttaattgttaaagaaaacttcttgtagcctcacattccccttgtgcaaagagctcttttggacctacatacattttcctttgtttttgaccaatcaatgaagccaaatttatatgtcctagtagaatgaagtgctgctagtttttatgagaagtatattatattaaatgtgaattttttaaattttgcttcttatactggaaggaattttagccttcatattgatatctaattaattatttaagtggaagaggcctgcatcacaattgaggtaatgtagagcaacatgttaaagaatgatggttagcagaagctgttgtatacaatcttcatgaaaatttcagtgtgtatttttctttttctataatacctttaactgcaaagaaaaggcagtttcaaatataagaaatttatttcaggtaagggtaatattttaatagtagtcaataatctagcttaaggctgtaactcttctatcggggctaattgtatgaataggtgtcagtatgttgaagattactttcttttgtgactttcttctacctcatgccactgtttaaaagtaaaacgtattttaatgatgttagaataagactaccattctaaatatcacctacttatgaataacatgtaataatttttaacattaatgattccataaattgtattattgggattagaatgtgctttatgacaggttagtgtttcctctgaggcagaaaactcttttttggagatatcttccatcaagcagtactcgtgcccatatacaatctcttagtggctaggagaaataaataaaagggccataatggtttgttctctttcagacataatttagtaggggacaagaagtctgttcttcagtgagtacactagagatttactctggtgactgccttttgagttatgggtgaagtaaggtatggctttaccataaccttgattcattcacccttgattcatttctcgcccccgtcactgattatttccttgagcatatatctctgcctaacactttagtaggtgctatagaggatacatgaaaagtatgagatctggttccatccagtaagacattttaatagagaagatcaaaatgttacctggcagttggggaataatctgacttcgttggcagttggccttaacttcttaatcattgatccaggaatatttcaaccagagacacaactttctggcagacagacaaattgtacaacaccaacaatatcctggaccttgaaattctgtttacttcagtccattgtatcctttaaggcacctgtgctagcctagattttgtaataacactgatttatgagaatggacaaaagtggtagggaaattgttccctctccacttctgaaagtatgatgatgtattaaggatggaggagttattaaaaatgtctcttctgatgaggtaacaattagatgaaaccatgttaaagctgagatgaacacttagaaattcagggatattgggtctttagccttatgaatttgagctgcttatttaattggtgtaatttactacatattagtactatattcgtaaggattttttattaaccattacagattttacaaacagctagttatatggtaaacagattattatgcctttttgcaattctgaatatgattctagtatttgtgtagatgtatttggtactttttcccctaattccaacactagtttatatatatagcgaataaatctagttgtataaatttttaaatgccgtcagtagaaagcacacaaggttatgatttttttaattactggcttctgatttctttcacttctgatccttttcctttttctcagatgtagctgagtcttgatcattttaagacaacgatgggtagaattttgagattaatgttaattttccctttttgttaatttcagtcccctctcactatgcttttgtccagaaggatcaagaattctaccatcccttgggtctttgtgtataaacaatgttaaataaaggtagactcagtctttaagatattagacagtttttttagtccatgggattgtaaatataaacattaactttcctataagaatattttggctttgtaatctatagcctcaaattggtatttattatggattcactagacaaacagctgtttccttattgtcttttttctttagtgtttctgatttgctatcagtagctgtttttaaagccgtccaaggaaaataattatttacagtttttgaagtcacttttgagccctcatcaagctctcattgtgatgggagggatacctttttgttgttaaaagcctattattgttaaaggccttttatggaaaccaacttggaaaacaaccttaaatgtggatgtatcagatttggtttatccagccatgggagagaaaacaaacctaagtttactttacttgtacatatacactacaatggatagtatatttgctgtaaactacaatgtaaaacctcaataaaagtgcgctgtacttcttaatgtttattaaaagatgtatttttacaaaaaaaaaaaaaaaaaaaaaaaaaa
//
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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