LOCUS       NM_148960               2841 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.
ACCESSION   NM_148960
VERSION     NM_148960.3
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 2841)
  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 2841)
  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 2841)
  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 2841)
  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 2841)
  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 2841)
  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 2841)
  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 2841)
  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 2841)
  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 2841)
  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, BC030524.1 and
            AC098484.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_148960.2.
            
            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 (1) represents the shortest
            transcript, but encodes the longest isoform (a).
            
            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 :: AK096063.1, SRR9304715.579845.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296387.6/ ENSP00000296387.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-309               AK096063.1         19-327
            310-799             BC030524.1         214-703
            800-1078            AK096063.1         818-1096
            1079-1079           AC098484.2         82833-82833         c
            1080-2841           AK096063.1         1098-2859
FEATURES             Location/Qualifiers
     source          1..2841
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..2841
                     /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..848
                     /gene="CLDN19"
                     /gene_synonym="HOMG5"
                     /note="isoform a is encoded by transcript variant 1"
                     /codon_start=1
                     /product="claudin-19 isoform a"
                     /protein_id="NP_683763.2"
                     /db_xref="CCDS:CCDS471.1"
                     /db_xref="GeneID:149461"
                     /db_xref="HGNC:HGNC:2040"
                     /db_xref="MIM:610036"
                     /translation="MANSGLQLLGYFLALGGWVGIIASTALPQWKQSSYAGDAIITAV
                     GLYEGLWMSCASQSTGQVQCKLYDSLLALDGHIQSARALMVVAVLLGFVAMVLSVVGM
                     KCTRVGDSNPIAKGRVAIAGGALFILAGLCTLTAVSWYATLVTQEFFNPSTPVNARYE
                     FGPALFVGWASAGLAVLGGSFLCCTCPEPERPNSSPQPYRPGPSAAAREPVVKLPASA
                     KGPLGV"
     exon            397..561
                     /gene="CLDN19"
                     /gene_synonym="HOMG5"
                     /inference="alignment:Splign:2.1.0"
     exon            562..646
                     /gene="CLDN19"
                     /gene_synonym="HOMG5"
                     /inference="alignment:Splign:2.1.0"
     exon            647..799
                     /gene="CLDN19"
                     /gene_synonym="HOMG5"
                     /inference="alignment:Splign:2.1.0"
     exon            800..2841
                     /gene="CLDN19"
                     /gene_synonym="HOMG5"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      939
                     /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 ggcctctgca ctttgactgc tgtctcgtgg tatgccaccc
      601 tggtgaccca ggagttcttc aacccaagca cacctgtcaa tgccaggtat gaatttggcc
      661 cagccctgtt cgtgggctgg gcctcagctg gcctggccgt gctgggcggc tccttcctct
      721 gctgcacatg cccggagcca gagagaccca acagcagccc acagccctat cggcctggac
      781 cctctgctgc tgcccgagaa ccagttgtta aattgcccgc ctccgccaag ggccccctgg
      841 gtgtgtaatg tccagtcccc agccaggctc tgtcccctgc catacctaga ctgtgtgttt
      901 catatttttt tggaaagaga agtgaacatc cagccccaat catggtatca ttcggtctgt
      961 cctcagcgtg gcttggacgg ggcctgtgtc agagtggtca gtgctgaccc ctggggctct
     1021 tgggcagaaa gatgaggaga cagaggtcca gggtgggtta catagcacat ccagggctaa
     1081 gcaagaaata attcagaggt cctaccctct gtctagggac ccccctccca agcctggcct
     1141 tggccttggc acaaagtcct ccttgatagg agatcccact cactcctgga ggctgcccct
     1201 gaggcttggc ccagctctag gagcagtccc cagggtcagg gagcccctgg tgtggaaaga
     1261 ggccccaagg tagtaaaccc tgcccctgtt actgtgctcc agagacctcc taagggaagg
     1321 gacagttcct ggaaggccct ccagctggat gctggggatc agcgataggt gaggggacac
     1381 agtgtaggag ctccccatgt agaaaaggga atgtggggag ggcgttagga gcttgcaggc
     1441 attaggactg tcctgagcaa ggtctgcagc ccccagctct gctcaccccg aatcctgccc
     1501 cttgtttcca cacctaccat tcctcctctc ctgatcccca gcatccagct gaggtccaag
     1561 gtctttgtcc tagaatcaga gtggggaggg gacagcctgg ggctgcccag agactgtggg
     1621 tggagctgcc tgctgcactc agcagtgcgg tcagagaagg gcttttggtc ttgaagtcca
     1681 ggtaccatcc ccccttagca tacaggggga agggcctgag aggaatgtaa ggaaaccagc
     1741 ccagatcagt cccaaggcca gagtcctttg tcctacatct ccctgaacca gagtgtgccc
     1801 tgcccctcat gctcagacct ctcccacccc aaaccctctc ccgggactca gtctccctgg
     1861 ccactgcgta tcaggcttct ggggaaagca tccatcacag aacctcccct tccctgccac
     1921 gcaccttcct tggccagctc cattctggcc tcctccacca cctgccttgt gaccacatct
     1981 cccaccacgt ccccagatct caagaacgca gctcagcttc tccttcgagc ttgactctga
     2041 gagggaaagt gacggaaacc aagtcagatg agatgactgc catgtacact gcagtcaagg
     2101 gcagggaggg gaggaatgac acaaatggca gggagctgct gggggactga cccctcggcg
     2161 cctggcctgg ccggtgctgc acatccaccg gggcacaaca gggacttgtc cagcctctgg
     2221 tcagaggatg tggccacctg accctaaata ggttccccag agtcctgccc ctctaatgaa
     2281 tgagaactgc aggagtttct cctctgggtg cctgaagcta tagtgcaatg gttcccaacc
     2341 ctgcatgcac attcgaatca cctgggggca caatgcctag gctccaaccc cagacactct
     2401 tatttcattg gtctgggtgg acctggcatc agaagtcatg tagctcctca ggggactgta
     2461 gtgtgtggtc agcactgagg gctcctctat gaggcctcaa gcccaggtga ctctgtgagg
     2521 tctgcagagg gagaaaagaa cccacaaggg aagaggtgga ggtcaggcac ggtggctcac
     2581 gcttgtaatc ccagcacttt gggaggccga ggtgggtaga tacctgaagt caggagttcg
     2641 agactagcct ggccaatatg gtaaaacccc gtgtctatta aaaatacaaa aattagctgg
     2701 ctgtggtggt gggcacctgt aatcccagct actcgggagg ctgaggcagg agaatcgctt
     2761 gaactcggga ggtggaggtt gcagtcagcc aagatcgtgc cactgcacac catcctggat
     2821 gacagagcaa gactccatca c
//
