LOCUS       NM_006580               2977 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens claudin 16 (CLDN16), transcript variant 1, mRNA.
ACCESSION   NM_006580
VERSION     NM_006580.4
KEYWORDS    RefSeq; MANE Select.
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 2977)
  AUTHORS   Malakoutian,T., Madadi,B. and Saber,S.
  TITLE     A Novel Mutation in CLDN16 Gene Causing Familial Hypomagnesemia,
            Hypercalciuria, Nephrocalcinosis in An Iranian Family
  JOURNAL   Iran J Kidney Dis 16 (3), 209-213 (2022)
   PUBMED   35714216
  REMARK    GeneRIF: A Novel Mutation in CLDN16 Gene Causing Familial
            Hypomagnesemia, Hypercalciuria, Nephrocalcinosis in An Iranian
            Family.
REFERENCE   2  (bases 1 to 2977)
  AUTHORS   Rouka,E., Liakopoulos,V., Gourgoulianis,K.I., Hatzoglou,C. and
            Zarogiannis,S.G.
  TITLE     In-Depth Bioinformatic Study of the CLDN16 Gene and Protein:
            Prediction of Subcellular Localization to Mitochondria
  JOURNAL   Medicina (Kaunas) 55 (8), 409 (2019)
   PUBMED   31357502
  REMARK    GeneRIF: To gain more understanding about the mechanisms by which
            CLDN16 mutations can induce FHHNC, we performed an in-depth
            computational analysis of the CLDN16 gene and protein, focusing
            specifically on the prediction of the latter's subcellular
            localization.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2977)
  AUTHORS   Perdomo-Ramirez,A., Aguirre,M., Davitaia,T., Ariceta,G.,
            Ramos-Trujillo,E. and Claverie-Martin,F.
  CONSRTM   RenalTube Group
  TITLE     Characterization of two novel mutations in the claudin-16 and
            claudin-19 genes that cause familial hypomagnesemia with
            hypercalciuria and nephrocalcinosis
  JOURNAL   Gene 689, 227-234 (2019)
   PUBMED   30576809
  REMARK    GeneRIF: Results show that CLDN16 mutation c.602G>A had no effect
            on pre-mRNA splicing in familial hypomagnesemia with hypercalciuria
            and nephrocalcinosis. This study expands the genotypic
            classification of this rare disease and provides the first report
            of a CLDN19 mutation affecting splicing.
REFERENCE   4  (bases 1 to 2977)
  AUTHORS   Perdomo-Ramirez,A., de Armas-Ortiz,M., Ramos-Trujillo,E.,
            Suarez-Artiles,L. and Claverie-Martin,F.
  TITLE     Exonic CLDN16 mutations associated with familial hypomagnesemia
            with hypercalciuria and nephrocalcinosis can induce deleterious
            mRNA alterations
  JOURNAL   BMC Med Genet 20 (1), 6 (2019)
   PUBMED   30621608
  REMARK    GeneRIF: Mutations in CLDN16 that encodes claudin-16, a
            tight-junction protein involved in paracellular reabsorption of
            magnesium and calcium in the renal tubule.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2977)
  AUTHORS   Arcidiacono,T., Simonini,M., Lanzani,C., Citterio,L., Salvi,E.,
            Barlassina,C., Spotti,D., Cusi,D., Manunta,P. and Vezzoli,G.
  TITLE     Claudin-14 Gene Polymorphisms and Urine Calcium Excretion
  JOURNAL   Clin J Am Soc Nephrol 13 (10), 1542-1549 (2018)
   PUBMED   30232134
  REMARK    GeneRIF: No significant associations were found among claudin-16
            and claudin-19 single-nucleotide polymorphisms and calcium
            excretion and between claudin-14, claudin-16, and claudin-19
            single-nucleotide polymorphisms and stones.
REFERENCE   6  (bases 1 to 2977)
  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 2977)
  AUTHORS   Weber,S., Hoffmann,K., Jeck,N., Saar,K., Boeswald,M.,
            Kuwertz-Broeking,E., Meij,I.I., Knoers,N.V., Cochat,P.,
            Sulakova,T., Bonzel,K.E., Soergel,M., Manz,F., Schaerer,K.,
            Seyberth,H.W., Reis,A. and Konrad,M.
  TITLE     Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis
            maps to chromosome 3q27 and is associated with mutations in the
            PCLN-1 gene
  JOURNAL   Eur J Hum Genet 8 (6), 414-422 (2000)
   PUBMED   10878661
REFERENCE   8  (bases 1 to 2977)
  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   9  (bases 1 to 2977)
  AUTHORS   Simon,D.B., Lu,Y., Choate,K.A., Velazquez,H., Al-Sabban,E.,
            Praga,M., Casari,G., Bettinelli,A., Colussi,G.,
            Rodriguez-Soriano,J., McCredie,D., Milford,D., Sanjad,S. and
            Lifton,R.P.
  TITLE     Paracellin-1, a renal tight junction protein required for
            paracellular Mg2+ resorption
  JOURNAL   Science 285 (5424), 103-106 (1999)
   PUBMED   10390358
REFERENCE   10 (bases 1 to 2977)
  AUTHORS   Manz,F., Scharer,K., Janka,P. and Lombeck,J.
  TITLE     Renal magnesium wasting, incomplete tubular acidosis,
            hypercalciuria and nephrocalcinosis in siblings
  JOURNAL   Eur J Pediatr 128 (2), 67-79 (1978)
   PUBMED   668721
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009520.16.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 20, 2020 this sequence version replaced NM_006580.3.
            
            Summary: Tight junctions represent one mode of cell-to-cell
            adhesion in epithelial or endothelial cell sheets, forming
            continuous seals around cells and serving as a physical barrier to
            prevent solutes and water from passing freely through the
            paracellular space. These junctions are comprised of sets of
            continuous networking strands in the outwardly facing cytoplasmic
            leaflet, with complementary grooves in the inwardly facing
            extracytoplasmic leaflet. The protein encoded by this gene, a
            member of the claudin family, is an integral membrane protein and a
            component of tight junction strands. It is found primarily in the
            kidneys, specifically in the thick ascending limb of Henle, where
            it acts as either an intercellular pore or ion concentration sensor
            to regulate the paracellular resorption of magnesium ions. Defects
            in this gene are a cause of primary hypomagnesemia, which is
            characterized by massive renal magnesium wasting with
            hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis
            and renal failure. This gene and the CLDN1 gene are clustered on
            chromosome 3q28. [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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC069662.1, AF152101.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264734.3/ ENSP00000264734.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-281               AC009520.16        93152-93432
            282-384             AC009520.16        107326-107428
            385-549             AC009520.16        109751-109915
            550-741             AC009520.16        113303-113494
            742-2977            AC009520.16        114892-117127
FEATURES             Location/Qualifiers
     source          1..2977
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q28"
     gene            1..2977
                     /gene="CLDN16"
                     /gene_synonym="HOMG3; PCLN1"
                     /note="claudin 16"
                     /db_xref="GeneID:10686"
                     /db_xref="HGNC:HGNC:2037"
                     /db_xref="MIM:603959"
     exon            1..281
                     /gene="CLDN16"
                     /gene_synonym="HOMG3; PCLN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             168..875
                     /gene="CLDN16"
                     /gene_synonym="HOMG3; PCLN1"
                     /note="paracellin-1; hypomagnesemia 3, with hypercalciuria
                     and nephrocalcinosis"
                     /codon_start=1
                     /product="claudin-16"
                     /protein_id="NP_006571.2"
                     /db_xref="CCDS:CCDS3296.2"
                     /db_xref="GeneID:10686"
                     /db_xref="HGNC:HGNC:2037"
                     /db_xref="MIM:603959"
                     /translation="MRDLLQYIACFFAFFSAGFLIVATWTDCWMVNADDSLEVSTKCR
                     GLWWECVTNAFDGIRTCDEYDSILAEHPLKLVVTRALMITADILAGFGFLTLLLGLDC
                     VKFLPDEPYIKVRICFVAGATLLIAGTPGIIGSVWYAVDVYVERSTLVLHNIFLGIQY
                     KFGWSCWLGMAGSLGCFLAGAVLTCCLYLFKDVGPERNYPYSLRKAYSAAGVSMAKSY
                     SAPRTETAKMYAVDTRV"
     exon            282..384
                     /gene="CLDN16"
                     /gene_synonym="HOMG3; PCLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            385..549
                     /gene="CLDN16"
                     /gene_synonym="HOMG3; PCLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            550..741
                     /gene="CLDN16"
                     /gene_synonym="HOMG3; PCLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            742..2977
                     /gene="CLDN16"
                     /gene_synonym="HOMG3; PCLN1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2957..2962
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLDN16"
                     /gene_synonym="HOMG3; PCLN1"
                     /note="hexamer: ATTAAA"
     polyA_site      2977
                     /gene="CLDN16"
                     /gene_synonym="HOMG3; PCLN1"
                     /note="major polyA site"
ORIGIN      
        1 attcttactg caactcaaga cacctgcagc agggcgtgag aaaaagtaaa agaccagtat
       61 tttcacattg ccaggtacca gaaacacaga agactgacac ccgccactta agtggggcca
      121 gggctggtgt ctgcccatgt tgccatcctg atgggctgct tgccacaatg agggatcttc
      181 ttcaatacat cgcttgcttc tttgcctttt tctctgctgg gtttttgatt gtggccacct
      241 ggactgactg ttggatggtg aatgctgatg actctctgga ggtgagcaca aaatgccgag
      301 gcctctggtg ggaatgcgtc acaaatgctt ttgatgggat tcgcacctgt gatgagtacg
      361 attccatact tgcggagcat cccttgaagc tggtggtaac tcgagcgttg atgattactg
      421 cagatattct agctgggttt ggatttctca ccctgctcct tggtcttgac tgcgtgaaat
      481 tcctccctga tgagccgtac attaaagtcc gcatctgctt tgttgctgga gccacgttac
      541 taatagcagg taccccagga atcattggct ctgtgtggta tgctgttgat gtgtatgtgg
      601 aacgttctac tttggttttg cacaatatat ttcttggtat ccaatataaa tttggttggt
      661 cctgttggct cggaatggct gggtctctgg gttgcttttt ggctggagct gttctcacct
      721 gctgcttata tctttttaaa gatgttggac ctgagagaaa ctatccttat tccttgagga
      781 aagcctattc agccgcgggt gtttccatgg ccaagtcata ctcagcccct cgcacagaga
      841 cggccaaaat gtatgctgta gacacaaggg tgtaaaatgc acgtttcagg gtgtgtttgc
      901 atatgattta atcaatcagt atggttacat tgataaaata gtaagtcaat ccaggaacag
      961 ttatttagaa ttcatattga attaaattaa ttgctagctt aatcaaaatg tttgattctc
     1021 ctatactttt tctttctatt actcttatat tttcccgtca ttctctctgc taaccttcca
     1081 ccttatgcac acactttccc tatattttaa gataagtctg ctaggatgta gaaatatttg
     1141 tttgtgattt ctatatagct attagagatt atgacatagt aatattaaaa tgaaatgata
     1201 cttaaacaga aagcaatttc caaagaggcc agggacccta atctttgaag agatgaagaa
     1261 acttactttt ctccctggct tttggttcac tttttgtact tttaacaagt gggtgaatta
     1321 tttgataatt ttgaggaaga ttattctttt aaattcaaac tagtatgtca atgcctacca
     1381 ttactctgat tatattaaaa cagaaaaagg aaataacaac ttcgtatacc agccactggt
     1441 gagagttaaa gacaagagct gcccccccac ccccaaatgt caaaggcaaa tgctaaattg
     1501 atactggagc tcgtggtgac tttctacctc actaacaaca taagggatct ccatattatt
     1561 tcaccactat tctagctttg ctgatatatt gccaaatgat tagactacag aatagttcaa
     1621 ccagagaatt tactcattta ttgattaaac atccaaatac tattgtaata tactatgtta
     1681 aaattcatca attcaagtgc ccacacacca ctgaatcatc agcaccaagc aatatattag
     1741 acatatggca aaattcaaca aatatatttt gatataaata aataaacgtt cacgacttta
     1801 cttaaaaaat caatgttgcg gctgggcacg gtagctcgcg tctgtaatcc ccgcactttg
     1861 ggaggccaag gcgggtggat cacgaggtca agagacggag accatcctgg ctaacatggt
     1921 gaaaccctgt ctctactaaa aatacaaaaa ttagccgggc gtggtggcgg tgcctgtagt
     1981 cccagctact cgggaggctg aggcaggaga atcgtttgaa cccaggaggt ggaggttgca
     2041 gtgagcggag atcgcaccat tgcactccag tctggcaaca gagcgagact ccatctcaaa
     2101 aaacaaaaat aaataaataa ataaatattc ttcataaaat gtgggttttg gggaaaatat
     2161 agaattacat atacatttaa cgaagtcgct aatgacattt cattcatatt cataatgtaa
     2221 ccatcttgaa tttttttaat tgtagcgatt ttaaaaatgt ttgtaaaatt taatttccag
     2281 ttttctaatt acttgtcagt cacattaata acattagtac ctttatggta cccttgcagt
     2341 acctgaaaag aatatcaacc tgaaaagaat atcaactcac ccagaaatta gttctttgaa
     2401 aaaaaagaaa ttaagttgtg aatttctaaa gaccttgaaa taagtgtttc aaatttaaag
     2461 aacaaagaat gatgtgaaaa tgagattatg attcctacta catgaattaa cgtttcgaga
     2521 ttgctgttta ttacttccca gagtatcttt aacagtattc tctgaagcag ttccaatcta
     2581 gttggagaat taacagcaat tgatttaact atctcatttt tattaactgt aatttacttt
     2641 aaaaatattt gcaaatcata ctcattagtt atttgatcat tgttctatgc attttaaaat
     2701 taattttgtg ttgttcctct caatatttgt ttttaacatt tattcccatt tttattttat
     2761 actattgtct gtcatgcttt atgtattcca ataagtgtct tgaaatcctt gtggggaaag
     2821 gcaggacaaa aataattagt taattagatt tgaaaaatgt aatttttcca ttttaaatat
     2881 ttcatttgta taagaaaata tttcagagaa ccatgatgat aatggatatg tgtgactgtt
     2941 ttgaattttt ttctcaatta aaacattttg tatgtaa
//
