LOCUS       NM_001185117            3499 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens claudin 19 (CLDN19), transcript variant 3, mRNA.
ACCESSION   NM_001185117
VERSION     NM_001185117.2
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 3499)
  AUTHORS   Vall-Palomar,M., Burballa,C., Claverie-Martin,F., Meseguer,A. and
            Ariceta,G.
  TITLE     Heterogeneity is a common ground in familial hypomagnesemia with
            hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations
  JOURNAL   J Nephrol 34 (6), 2053-2062 (2021)
   PUBMED   33929692
  REMARK    GeneRIF: Heterogeneity is a common ground in familial
            hypomagnesemia with hypercalciuria and nephrocalcinosis caused by
            CLDN19 gene mutations.
REFERENCE   2  (bases 1 to 3499)
  AUTHORS   Liu,F., Peng,S., Adelman,R.A. and Rizzolo,L.J.
  TITLE     Knockdown of Claudin-19 in the Retinal Pigment Epithelium Is
            Accompanied by Slowed Phagocytosis and Increased Expression of
            SQSTM1
  JOURNAL   Invest Ophthalmol Vis Sci 62 (2), 14 (2021)
   PUBMED   33591357
  REMARK    GeneRIF: Knockdown of Claudin-19 in the Retinal Pigment Epithelium
            Is Accompanied by Slowed Phagocytosis and Increased Expression of
            SQSTM1.
REFERENCE   3  (bases 1 to 3499)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3499)
  AUTHORS   Wang,S.B., Xu,T., Peng,S., Singh,D., Ghiassi-Nejad,M., Adelman,R.A.
            and Rizzolo,L.J.
  TITLE     Disease-associated mutations of claudin-19 disrupt retinal
            neurogenesis and visual function
  JOURNAL   Commun Biol 2, 113 (2019)
   PUBMED   30937396
  REMARK    GeneRIF: Mutated claudin-19 affects multiple stages of RPE and
            retinal differentiation through its effects on multiple functions
            of the RPE.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3499)
  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   6  (bases 1 to 3499)
  AUTHORS   Gonzalez-Mariscal,L., Betanzos,A., Nava,P. and Jaramillo,B.E.
  TITLE     Tight junction proteins
  JOURNAL   Prog Biophys Mol Biol 81 (1), 1-44 (2003)
   PUBMED   12475568
  REMARK    Review article
REFERENCE   7  (bases 1 to 3499)
  AUTHORS   Tsukita,S. and Furuse,M.
  TITLE     Claudin-based barrier in simple and stratified cellular sheets
  JOURNAL   Curr Opin Cell Biol 14 (5), 531-536 (2002)
   PUBMED   12231346
  REMARK    Review article
REFERENCE   8  (bases 1 to 3499)
  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 3499)
  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 3499)
  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 AK096063.1, AK298992.1 and
            AC098484.2.
            
            On Aug 13, 2020 this sequence version replaced NM_001185117.1.
            
            Summary: The product of this gene belongs to the claudin family. It
            plays a major role in tight junction-specific obliteration of the
            intercellular space, through calcium-independent cell-adhesion
            activity. Defects in this gene are the cause of hypomagnesemia
            renal with ocular involvement (HOMGO). HOMGO is a progressive renal
            disease characterized by primary renal magnesium wasting with
            hypomagnesemia, hypercalciuria and nephrocalcinosis associated with
            severe ocular abnormalities such as bilateral chorioretinal scars,
            macular colobomata, significant myopia and nystagmus. Alternatively
            spliced transcript variants encoding distinct isoforms have been
            identified for this gene. [provided by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (3) lacks an exon in the CDS,
            which results in frame-shift, and contains an additional segment in
            the 3' region compared to variant 1. The resulting isoform (c) is
            shorter and has a distinct C-terminus compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK298992.1 [ECO:0000332]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AK096063.1         19-24
            7-728               AK298992.1         4-725
            729-3499            AC098484.2         81071-83841         c
FEATURES             Location/Qualifiers
     source          1..3499
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..3499
                     /gene="CLDN19"
                     /gene_synonym="HOMG5"
                     /note="claudin 19"
                     /db_xref="GeneID:149461"
                     /db_xref="HGNC:HGNC:2040"
                     /db_xref="MIM:610036"
     exon            1..396
                     /gene="CLDN19"
                     /gene_synonym="HOMG5"
                     /inference="alignment:Splign:2.1.0"
     CDS             174..830
                     /gene="CLDN19"
                     /gene_synonym="HOMG5"
                     /note="isoform c is encoded by transcript variant 3"
                     /codon_start=1
                     /product="claudin-19 isoform c"
                     /protein_id="NP_001172046.1"
                     /db_xref="CCDS:CCDS53306.1"
                     /db_xref="GeneID:149461"
                     /db_xref="HGNC:HGNC:2040"
                     /db_xref="MIM:610036"
                     /translation="MANSGLQLLGYFLALGGWVGIIASTALPQWKQSSYAGDAIITAV
                     GLYEGLWMSCASQSTGQVQCKLYDSLLALDGHIQSARALMVVAVLLGFVAMVLSVVGM
                     KCTRVGDSNPIAKGRVAIAGGALFILAGMNLAQPCSWAGPQLAWPCWAAPSSAAHARS
                     QRDPTAAHSPIGLDPLLLPESTSELRLPWPAPHPVAPLPSIQPASQHPGQGHWGIGWA
                     "
     exon            397..561
                     /gene="CLDN19"
                     /gene_synonym="HOMG5"
                     /inference="alignment:Splign:2.1.0"
     exon            562..3499
                     /gene="CLDN19"
                     /gene_synonym="HOMG5"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1597
                     /gene="CLDN19"
                     /gene_synonym="HOMG5"
                     /note="major polyA site"
ORIGIN      
        1 actgcctttg ctccagccgc tgccgccgca ccacctctcc ttctctgcct ctgaccctcc
       61 ttctcgctgc tccccctgcc cagctgctcc tcccacctgg ccatgaccaa agcccctgct
      121 ggcaccctgg cccagctctg agtcctggga ccctcggtcc tctctcctgg gccatggcca
      181 actcaggcct ccagctcctg ggctacttct tggccctggg tggctgggtg ggcatcattg
      241 ctagcacagc cctgccacag tggaagcagt cttcctacgc aggcgacgcc atcatcactg
      301 ccgtgggcct ctatgaaggg ctctggatgt cctgcgcctc ccagagcact gggcaagtgc
      361 agtgcaagct ctacgactcg ctgctcgccc tggacggtca catccaatca gcgcgggccc
      421 tgatggtggt ggccgtgctc ctgggcttcg tggccatggt cctcagcgta gttggcatga
      481 agtgtacgcg ggtgggagac agcaacccca ttgccaaggg ccgtgttgcc atcgccgggg
      541 gagccctctt catcctggca ggtatgaatt tggcccagcc ctgttcgtgg gctgggcctc
      601 agctggcctg gccgtgctgg gcggctcctt cctctgctgc acatgcccgg agccagagag
      661 acccaacagc agcccacagc cctatcggcc tggaccctct gctgctgccc gagagtacgt
      721 ctgagctccg cctgccctgg ccagcccccc acccagtggc ccccttgccc agcatccagc
      781 cagcctcgca gcaccctggg cagggccact ggggcatagg atgggcatag gtgctctgag
      841 cagcttgtcc tcaacacaag cacccaccct gcaatctgag acccagatcc tcagagagac
      901 accagaggca ggacccagcc cccaggcata cacacagatg caggtccagg cacggtcttg
      961 tctgcacagc ctggtgggca ccagcatgca tccctggaga caggccctca ggcaccagcc
     1021 cggctgttta ctcactgaag agctgcttgg gtgtctgcta cgtgctgggc cctagagata
     1081 gagcagtggc caagacgtac cttagtaccc aggtccttgg ggtgagcaga aaccttcacc
     1141 ctccccagtc ccatgggctc ctcacagcaa ccccacaagg gcagtgccgg gatgctgaac
     1201 gttcacacaa ggacagggag ggtctgagtt taggtctcag gttcttccag tgcgcccagg
     1261 gctgggggcc acctacacag atggtgaggt cggaccatgg cgcccctgcc cccgggaatg
     1321 ggccccaggc agggctgctg tgagggccaa ggtctggcca cgctggccag tacccatgtc
     1381 cgggcctgaa tgcacagccc ctgcccccga ccccacagct cactccacta accagctctc
     1441 tctcttttga ctttcagacc agttgttaaa ttgcccgcct ccgccaaggg ccccctgggt
     1501 gtgtaatgtc cagtccccag ccaggctctg tcccctgcca tacctagact gtgtgtttca
     1561 tatttttttg gaaagagaag tgaacatcca gccccaatca tggtatcatt cggtctgtcc
     1621 tcagcgtggc ttggacgggg cctgtgtcag agtggtcagt gctgacccct ggggctcttg
     1681 ggcagaaaga tgaggagaca gaggtccagg gtgggttaca tagcacatcc agggctaagc
     1741 aagaaataat tcagaggtcc taccctctgt ctagggaccc ccctcccaag cctggccttg
     1801 gccttggcac aaagtcctcc ttgataggag atcccactca ctcctggagg ctgcccctga
     1861 ggcttggccc agctctagga gcagtcccca gggtcaggga gcccctggtg tggaaagagg
     1921 ccccaaggta gtaaaccctg cccctgttac tgtgctccag agacctccta agggaaggga
     1981 cagttcctgg aaggccctcc agctggatgc tggggatcag cgataggtga ggggacacag
     2041 tgtaggagct ccccatgtag aaaagggaat gtggggaggg cgttaggagc ttgcaggcat
     2101 taggactgtc ctgagcaagg tctgcagccc ccagctctgc tcaccccgaa tcctgcccct
     2161 tgtttccaca cctaccattc ctcctctcct gatccccagc atccagctga ggtccaaggt
     2221 ctttgtccta gaatcagagt ggggagggga cagcctgggg ctgcccagag actgtgggtg
     2281 gagctgcctg ctgcactcag cagtgcggtc agagaagggc ttttggtctt gaagtccagg
     2341 taccatcccc ccttagcata cagggggaag ggcctgagag gaatgtaagg aaaccagccc
     2401 agatcagtcc caaggccaga gtcctttgtc ctacatctcc ctgaaccaga gtgtgccctg
     2461 cccctcatgc tcagacctct cccaccccaa accctctccc gggactcagt ctccctggcc
     2521 actgcgtatc aggcttctgg ggaaagcatc catcacagaa cctccccttc cctgccacgc
     2581 accttccttg gccagctcca ttctggcctc ctccaccacc tgccttgtga ccacatctcc
     2641 caccacgtcc ccagatctca agaacgcagc tcagcttctc cttcgagctt gactctgaga
     2701 gggaaagtga cggaaaccaa gtcagatgag atgactgcca tgtacactgc agtcaagggc
     2761 agggagggga ggaatgacac aaatggcagg gagctgctgg gggactgacc cctcggcgcc
     2821 tggcctggcc ggtgctgcac atccaccggg gcacaacagg gacttgtcca gcctctggtc
     2881 agaggatgtg gccacctgac cctaaatagg ttccccagag tcctgcccct ctaatgaatg
     2941 agaactgcag gagtttctcc tctgggtgcc tgaagctata gtgcaatggt tcccaaccct
     3001 gcatgcacat tcgaatcacc tgggggcaca atgcctaggc tccaacccca gacactctta
     3061 tttcattggt ctgggtggac ctggcatcag aagtcatgta gctcctcagg ggactgtagt
     3121 gtgtggtcag cactgagggc tcctctatga ggcctcaagc ccaggtgact ctgtgaggtc
     3181 tgcagaggga gaaaagaacc cacaagggaa gaggtggagg tcaggcacgg tggctcacgc
     3241 ttgtaatccc agcactttgg gaggccgagg tgggtagata cctgaagtca ggagttcgag
     3301 actagcctgg ccaatatggt aaaaccccgt gtctattaaa aatacaaaaa ttagctggct
     3361 gtggtggtgg gcacctgtaa tcccagctac tcgggaggct gaggcaggag aatcgcttga
     3421 actcgggagg tggaggttgc agtcagccaa gatcgtgcca ctgcacacca tcctggatga
     3481 cagagcaaga ctccatcac
//
