2025-05-12 01:57:12, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001185073 3645 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens claudin 12 (CLDN12), transcript variant 2, mRNA. ACCESSION NM_001185073 VERSION NM_001185073.2 GI:313760614 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 3645) 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 3645) 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 3645) 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 3645) 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 3645) 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 3645) 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 3645) 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 3645) 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 3645) 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 3645) 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, DB224591.1, AK312480.1, BC036754.2, BC068532.1 and AL136770.1. On Dec 9, 2010 this sequence version replaced gi:297374759. 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 (2) uses an alternate splice site and 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 :: BI523949.1, DR000767.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025082, ERS025083 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-147 DB062973.1 1-147 148-675 DB224591.1 34-561 676-818 AK312480.1 600-742 819-1656 BC036754.2 604-1441 1657-2771 BC068532.1 1539-2653 2772-3645 AL136770.1 2620-3493 FEATURES Location/Qualifiers source 1..3645 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="7" /map="7q21" gene 1..3645 /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..310 /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 311..3621 /gene="CLDN12" /inference="alignment:Splign:1.39.8" misc_feature 317..319 /gene="CLDN12" /note="upstream in-frame stop codon" CDS 344..1078 /gene="CLDN12" /codon_start=1 /product="claudin-12" /protein_id="NP_001172002.1" /db_xref="GI:297374760" /db_xref="CCDS:CCDS5618.1" /db_xref="GeneID:9069" /db_xref="HGNC:2034" /db_xref="MIM:611232" /translation="
MGCRDVHAATVLSFLCGIASVAGLFAGTLLPNWRKLRLITFNRNEKNLTVYTGLWVKCARYDGSSDCLMYDTTWYSSVDQLDLRVLQFALPLSMLIAMGALLLCLIGMCNTAFRSSVPNIKLAKCLVNSAGCHLVAGLLFFLAGTVSLSPSIWVIFYNIHLNKKFEPVFSFDYAVYVTIASAGGLFMTSLILFIWYCTCKSLPSPFWQPLYSHPPSMHTYSQPYSARSRLSAIEIDIPVVSHTT
" misc_feature 374..436 /gene="CLDN12" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P56749.1); transmembrane region" misc_feature 605..667 /gene="CLDN12" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P56749.1); transmembrane region" misc_feature 749..811 /gene="CLDN12" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P56749.1); transmembrane region" misc_feature 866..928 /gene="CLDN12" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P56749.1); transmembrane region" misc_feature 1034..1036 /gene="CLDN12" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P56749.1); phosphorylation site" variation 354 /gene="CLDN12" /replace="g" /replace="t" /db_xref="dbSNP:200372770" variation 355 /gene="CLDN12" /replace="g" /replace="t" /db_xref="dbSNP:201163165" variation 397 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:374340236" STS 432..676 /gene="CLDN12" /standard_name="REN107123" /db_xref="UniSTS:431920" variation 475 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:140108357" variation 521 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:367561054" variation 525 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:371660301" variation 529 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:17862175" variation 530 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:200164858" variation 553 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:185427290" variation 554 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:368401578" variation 570 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:372373015" variation 574 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:200281270" variation 635 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:76988207" STS 656..892 /gene="CLDN12" /standard_name="REN107124" /db_xref="UniSTS:431921" variation 658 /gene="CLDN12" /replace="g" /replace="t" /db_xref="dbSNP:79632494" variation 691 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:34378679" variation 699 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:370065476" variation 700 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:373294317" variation 708 /gene="CLDN12" /replace="a" /replace="t" /db_xref="dbSNP:146056566" variation 816 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:139669349" STS 836..1088 /gene="CLDN12" /standard_name="REN107125" /db_xref="UniSTS:431922" variation 896 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:149798695" variation 937 /gene="CLDN12" /replace="a" /replace="t" /db_xref="dbSNP:148668482" variation 943 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:142157384" STS 953..1853 /gene="CLDN12" /standard_name="ECD00552" /db_xref="UniSTS:281662" variation 990 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:376598671" variation 1010 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:189780617" variation 1019 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:147857522" variation 1022 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:141430153" STS 1065..1308 /gene="CLDN12" /standard_name="REN107126" /db_xref="UniSTS:431923" variation 1086 /gene="CLDN12" /replace="a" /replace="t" /db_xref="dbSNP:374720515" variation 1101 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:375989620" variation 1110 /gene="CLDN12" /replace="a" /replace="c" /db_xref="dbSNP:182726869" variation 1118 /gene="CLDN12" /replace="c" /replace="g" /db_xref="dbSNP:147269114" variation 1160 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:140861444" variation 1210 /gene="CLDN12" /replace="a" /replace="c" /db_xref="dbSNP:3810874" variation 1217 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:187870115" STS 1272..1496 /gene="CLDN12" /standard_name="REN107127" /db_xref="UniSTS:431924" STS 1336..2385 /gene="CLDN12" /standard_name="stSG614603" /db_xref="UniSTS:450490" variation 1343 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:191882778" STS 1385..1639 /gene="CLDN12" /standard_name="REN107128" /db_xref="UniSTS:431925" variation 1449 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:183250663" variation 1455 /gene="CLDN12" /replace="a" /replace="t" /db_xref="dbSNP:17865130" variation 1535 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:1017104" STS 1634..1867 /gene="CLDN12" /standard_name="REN107129" /db_xref="UniSTS:431926" variation 1657 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:1017105" variation 1667 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:1017106" variation 1737 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:374000239" STS 1838..2088 /gene="CLDN12" /standard_name="REN107130" /db_xref="UniSTS:431927" STS 1890..2786 /gene="CLDN12" /standard_name="ECD00648" /db_xref="UniSTS:281757" variation 1894 /gene="CLDN12" /replace="g" /replace="t" /db_xref="dbSNP:376739855" variation 2005 /gene="CLDN12" /replace="" /replace="a" /db_xref="dbSNP:140787647" variation 2030 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:193147106" STS 2080..2335 /gene="CLDN12" /standard_name="REN107131" /db_xref="UniSTS:431928" variation 2218 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:142246998" variation 2222 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:11563542" STS 2321..2584 /gene="CLDN12" /standard_name="REN107132" /db_xref="UniSTS:431929" variation 2324 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:151249770" STS 2366..3487 /gene="CLDN12" /standard_name="stSG614604" /db_xref="UniSTS:450491" variation 2501 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:17861306" variation 2515 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:34833025" STS 2583..2852 /gene="CLDN12" /standard_name="REN107133" /db_xref="UniSTS:431930" variation 2676 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:17867644" STS 2827..3073 /gene="CLDN12" /standard_name="REN107134" /db_xref="UniSTS:431931" variation 2910..2911 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:1048881" variation 2952 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:184613376" variation 2995 /gene="CLDN12" /replace="g" /replace="t" /db_xref="dbSNP:1048883" STS 3042..3314 /gene="CLDN12" /standard_name="REN107135" /db_xref="UniSTS:431932" STS 3114..3298 /gene="CLDN12" /standard_name="RH65832" /db_xref="UniSTS:43176" variation 3163 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:186714887" variation 3191 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:191175070" variation 3216 /gene="CLDN12" /replace="a" /replace="t" /db_xref="dbSNP:370567033" STS 3261..3488 /gene="CLDN12" /standard_name="REN107136" /db_xref="UniSTS:431933" variation 3298 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:9731" STS 3336..3487 /gene="CLDN12" /standard_name="RH47948" /db_xref="UniSTS:37396" variation 3453 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:17863096" variation 3580 /gene="CLDN12" /replace="c" /replace="t" /db_xref="dbSNP:184005906" variation 3606 /gene="CLDN12" /replace="a" /replace="g" /db_xref="dbSNP:17866176" ORIGIN
aggatgttgcctgcggctggcggcccagtggattctgggaattgtagtcccagccatccagggcattgccgttcagggccacgggaaaacctgactgcgctcccagaagcctccggtgtacctcgctgggaacgcacttcctgggacgctgagagggagacgctccaagaggctcctcagtgtgggcgagtaaaatgccctgcgtgtgagaagcaggctcagattattgctactctgtattcagatcttcatgtgtctcttctaagctgaataaagctgttttggaactgtcaggtacctcaaagcgtaatctgactgacagtactccacaagcttgcctgccatgggctgtcgggatgtccacgcagccacagtcctttccttcctgtgtggaatcgcctcagtagcaggcctctttgcagggactctgcttcccaactggagaaaattacgattgatcacattcaacagaaacgagaagaacctgactgtttacacaggcctgtgggtgaaatgtgcccggtatgacgggagcagtgactgcctgatgtacgacactacttggtactcatcagttgaccagctggacctgcgtgtcctccagtttgccctacccctcagcatgctgatcgccatgggtgccctgctgctctgcctgattggaatgtgcaacactgccttcaggtcctcggtgcccaacatcaaactggccaagtgtctggtcaatagtgcaggttgccacctggtggctgggctgctatttttcctggcaggtactgtgagcctctccccatctatctgggtcatcttttataacatccatctgaacaagaagtttgagccagtcttttcatttgactatgcagtgtatgtcactattgctagtgctgggggcctgtttatgacttcccttatactatttatttggtattgtacatgcaaatctttgccttctcctttctggcaaccattgtactcccatccacccagtatgcatacttactcacagccctattcagcacgctctcgcctctctgccattgaaattgacattccagtagtttcacacaccacttaatggggaaatagttaattgttaaagaaaacttcttgtagcctcacattccccttgtgcaaagagctcttttggacctacatacattttcctttgtttttgaccaatcaatgaagccaaatttatatgtcctagtagaatgaagtgctgctagtttttatgagaagtatattatattaaatgtgaattttttaaattttgcttcttatactggaaggaattttagccttcatattgatatctaattaattatttaagtggaagaggcctgcatcacaattgaggtaatgtagagcaacatgttaaagaatgatggttagcagaagctgttgtatacaatcttcatgaaaatttcagtgtgtatttttctttttctataatacctttaactgcaaagaaaaggcagtttcaaatataagaaatttatttcaggtaagggtaatattttaatagtagtcaataatctagcttaaggctgtaactcttctatcggggctaattgtatgaataggtgtcagtatgttgaagattactttcttttgtgactttcttctacctcatgccactgtttaaaagtaaaacgtattttaatgatgttagaataagactaccattctaaatatcacctacttatgaataacatgtaataatttttaacattaatgattccataaattgtattattgggattagaatgtgctttatgacaggttagtgtttcctctgaggcagaaaactcttttttggagatatcttccatcaagcagtactcgtgcccatatacaatctcttagtggctaggagaaataaataaaagggccataatggtttgttctctttcagacataatttagtaggggacaagaagtctgttcttcagtgagtacactagagatttactctggtgactgccttttgagttatgggtgaagtaaggtatggctttaccataaccttgattcattcacccttgattcatttctcgcccccgtcactgattatttccttgagcatatatctctgcctaacactttagtaggtgctatagaggatacatgaaaagtatgagatctggttccatccagtaagacattttaatagagaagatcaaaatgttacctggcagttggggaataatctgacttcgttggcagttggccttaacttcttaatcattgatccaggaatatttcaaccagagacacaactttctggcagacagacaaattgtacaacaccaacaatatcctggaccttgaaattctgtttacttcagtccattgtatcctttaaggcacctgtgctagcctagattttgtaataacactgatttatgagaatggacaaaagtggtagggaaattgttccctctccacttctgaaagtatgatgatgtattaaggatggaggagttattaaaaatgtctcttctgatgaggtaacaattagatgaaaccatgttaaagctgagatgaacacttagaaattcagggatattgggtctttagccttatgaatttgagctgcttatttaattggtgtaatttactacatattagtactatattcgtaaggattttttattaaccattacagattttacaaacagctagttatatggtaaacagattattatgcctttttgcaattctgaatatgattctagtatttgtgtagatgtatttggtactttttcccctaattccaacactagtttatatatatagcgaataaatctagttgtataaatttttaaatgccgtcagtagaaagcacacaaggttatgatttttttaattactggcttctgatttctttcacttctgatccttttcctttttctcagatgtagctgagtcttgatcattttaagacaacgatgggtagaattttgagattaatgttaattttccctttttgttaatttcagtcccctctcactatgcttttgtccagaaggatcaagaattctaccatcccttgggtctttgtgtataaacaatgttaaataaaggtagactcagtctttaagatattagacagtttttttagtccatgggattgtaaatataaacattaactttcctataagaatattttggctttgtaatctatagcctcaaattggtatttattatggattcactagacaaacagctgtttccttattgtcttttttctttagtgtttctgatttgctatcagtagctgtttttaaagccgtccaaggaaaataattatttacagtttttgaagtcacttttgagccctcatcaagctctcattgtgatgggagggatacctttttgttgttaaaagcctattattgttaaaggccttttatggaaaccaacttggaaaacaaccttaaatgtggatgtatcagatttggtttatccagccatgggagagaaaacaaacctaagtttactttacttgtacatatacactacaatggatagtatatttgctgtaaactacaatgtaaaacctcaataaaagtgcgctgtacttcttaatgtttattaaaagatgtatttttacaaaaaaaaaaaaaaaaaaaaaaaaaa
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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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