LOCUS       NM_016112               2790 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens polycystin 2 like 1, transient receptor potential
            cation channel (PKD2L1), transcript variant 1, mRNA.
ACCESSION   NM_016112
VERSION     NM_016112.3
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 2790)
  AUTHORS   Kragl,A., Hannemann,A., Nauck,M., Volker,U., Siggelkow,H.,
            Teumer,A. and Tzvetkov,M.V.
  TITLE     Genetic Variants in WNT16 and PKD2L1 Locus Affect Heel Ultrasound
            Bone Stiffness: Analyses from the General Population and Patients
            Evaluated for Osteoporosis
  JOURNAL   Calcif Tissue Int 113 (5), 540-551 (2023)
   PUBMED   37831088
  REMARK    GeneRIF: Genetic Variants in WNT16 and PKD2L1 Locus Affect Heel
            Ultrasound Bone Stiffness: Analyses from the General Population and
            Patients Evaluated for Osteoporosis.
REFERENCE   2  (bases 1 to 2790)
  AUTHORS   Shimizu,T., Fujii,T., Hanita,K., Shinozaki,R., Takamura,Y.,
            Suzuki,Y., Kageyama,T., Kato,M., Nishijo,H., Tominaga,M. and
            Sakai,H.
  TITLE     Polycystic kidney disease 2-like 1 channel contributes to the
            bitter aftertaste perception of quinine
  JOURNAL   Sci Rep 13 (1), 4271 (2023)
   PUBMED   36922541
  REMARK    GeneRIF: Polycystic kidney disease 2-like 1 channel contributes to
            the bitter aftertaste perception of quinine.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2790)
  AUTHORS   Eom,S., Lee,S., Lee,J., Pyeon,M., Yeom,H.D., Song,J.H., Choi,E.J.,
            Lee,M., Lee,J.H. and Chang,J.Y.
  TITLE     Molecular Mechanism of L-Pyroglutamic Acid Interaction with the
            Human Sour Receptor
  JOURNAL   J Microbiol Biotechnol 33 (2), 203-210 (2023)
   PUBMED   36655284
  REMARK    GeneRIF: Molecular Mechanism of L-Pyroglutamic Acid Interaction
            with the Human Sour Receptor.
REFERENCE   4  (bases 1 to 2790)
  AUTHORS   Walsh,S., Izquierdo-Serra,M., Acosta,S., Edo,A., Lloret,M.,
            Moret,R., Bosch,E., Oliva,B., Bertranpetit,J. and
            Fernandez-Fernandez,J.M.
  TITLE     Adaptive selection drives TRPP3 loss-of-function in an Ethiopian
            population
  JOURNAL   Sci Rep 10 (1), 20999 (2020)
   PUBMED   33268808
  REMARK    GeneRIF: Adaptive selection drives TRPP3 loss-of-function in an
            Ethiopian population.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2790)
  AUTHORS   Ng,L.C.T., Vien,T.N., Yarov-Yarovoy,V. and DeCaen,P.G.
  TITLE     Opening TRPP2 (PKD2L1) requires the transfer of gating charges
  JOURNAL   Proc Natl Acad Sci U S A 116 (31), 15540-15549 (2019)
   PUBMED   31315976
  REMARK    GeneRIF: Opening TRPP2 (PKD2L1) requires the transfer of gating
            charges.
REFERENCE   6  (bases 1 to 2790)
  AUTHORS   Veldhuisen,B., Spruit,L., Dauwerse,H.G., Breuning,M.H. and
            Peters,D.J.
  TITLE     Genes homologous to the autosomal dominant polycystic kidney
            disease genes (PKD1 and PKD2)
  JOURNAL   Eur J Hum Genet 7 (8), 860-872 (1999)
   PUBMED   10602361
REFERENCE   7  (bases 1 to 2790)
  AUTHORS   Chen,X.Z., Vassilev,P.M., Basora,N., Peng,J.B., Nomura,H.,
            Segal,Y., Brown,E.M., Reeders,S.T., Hediger,M.A. and Zhou,J.
  TITLE     Polycystin-L is a calcium-regulated cation channel permeable to
            calcium ions
  JOURNAL   Nature 401 (6751), 383-386 (1999)
   PUBMED   10517637
REFERENCE   8  (bases 1 to 2790)
  AUTHORS   Tsiokas,L., Arnould,T., Zhu,C., Kim,E., Walz,G. and Sukhatme,V.P.
  TITLE     Specific association of the gene product of PKD2 with the TRPC1
            channel
  JOURNAL   Proc Natl Acad Sci U S A 96 (7), 3934-3939 (1999)
   PUBMED   10097141
REFERENCE   9  (bases 1 to 2790)
  AUTHORS   Wu,G., Hayashi,T., Park,J.H., Dixit,M., Reynolds,D.M., Li,L.,
            Maeda,Y., Cai,Y., Coca-Prados,M. and Somlo,S.
  TITLE     Identification of PKD2L, a human PKD2-related gene: tissue-specific
            expression and mapping to chromosome 10q25
  JOURNAL   Genomics 54 (3), 564-568 (1998)
   PUBMED   9878261
REFERENCE   10 (bases 1 to 2790)
  AUTHORS   Nomura,H., Turco,A.E., Pei,Y., Kalaydjieva,L., Schiavello,T.,
            Weremowicz,S., Ji,W., Morton,C.C., Meisler,M., Reeders,S.T. and
            Zhou,J.
  TITLE     Identification of PKDL, a novel polycystic kidney disease 2-like
            gene whose murine homologue is deleted in mice with kidney and
            retinal defects
  JOURNAL   J Biol Chem 273 (40), 25967-25973 (1998)
   PUBMED   9748274
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139819.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 26, 2018 this sequence version replaced NM_016112.2.
            
            Summary: This gene encodes a member of the polycystin protein
            family. The encoded protein contains multiple transmembrane
            domains, and cytoplasmic N- and C-termini. The protein may be an
            integral membrane protein involved in cell-cell/matrix
            interactions. This protein functions as a calcium-regulated
            nonselective cation channel. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Dec 2011].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (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 :: BC025665.1, AF073481.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318222.4/ ENSP00000325296.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-360               AL139819.8         51055-51414         c
            361-474             AL139819.8         50397-50510         c
            475-602             AL139819.8         20777-20904         c
            603-856             AL139819.8         19748-20001         c
            857-1081            AL139819.8         18568-18792         c
            1082-1310           AL139819.8         18166-18394         c
            1311-1481           AL139819.8         17308-17478         c
            1482-1663           AL139819.8         16128-16309         c
            1664-1784           AL139819.8         15721-15841         c
            1785-1883           AL139819.8         14467-14565         c
            1884-2005           AL139819.8         14134-14255         c
            2006-2132           AL139819.8         12487-12613         c
            2133-2251           AL139819.8         11587-11705         c
            2252-2375           AL139819.8         11201-11324         c
            2376-2460           AL139819.8         10158-10242         c
            2461-2790           AL139819.8         9335-9664           c
FEATURES             Location/Qualifiers
     source          1..2790
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     gene            1..2790
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /note="polycystin 2 like 1, transient receptor potential
                     cation channel"
                     /db_xref="GeneID:9033"
                     /db_xref="HGNC:HGNC:9011"
                     /db_xref="MIM:604532"
     exon            1..360
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             126..2543
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transient receptor potential cation channel, subfamily P,
                     member 3; polycystin-L; polycystic kidney disease 2-like 1
                     protein; polycystin-L1; polycystin-2L1; polycystin-2
                     homolog; polycystin-2-like protein 1"
                     /codon_start=1
                     /product="polycystin-2-like protein 1 isoform 1"
                     /protein_id="NP_057196.2"
                     /db_xref="CCDS:CCDS7492.1"
                     /db_xref="GeneID:9033"
                     /db_xref="HGNC:HGNC:9011"
                     /db_xref="MIM:604532"
                     /translation="MNAVGSPEGQELQKLGSGAWDNPAYSGPPSPHGTLRVCTISSTG
                     PLQPQPKKPEDEPQETAYRTQVSSCCLHICQGIRGLWGTTLTENTAENRELYIKTTLR
                     ELLVYIVFLVDICLLTYGMTSSSAYYYTKVMSELFLHTPSDTGVSFQAISSMADFWDF
                     AQGPLLDSLYWTKWYNNQSLGHGSHSFIYYENMLLGVPRLRQLKVRNDSCVVHEDFRE
                     DILSCYDVYSPDKEEQLPFGPFNGTAWTYHSQDELGGFSHWGRLTSYSGGGYYLDLPG
                     SRQGSAEALRALQEGLWLDRGTRVVFIDFSVYNANINLFCVLRLVVEFPATGGAIPSW
                     QIRTVKLIRYVSNWDFFIVGCEVIFCVFIFYYVVEEILELHIHRLRYLSSIWNILDLV
                     VILLSIVAVGFHIFRTLEVNRLMGKLLQQPNTYADFEFLAFWQTQYNNMNAVNLFFAW
                     IKIFKYISFNKTMTQLSSTLARCAKDILGFAVMFFIVFFAYAQLGYLLFGTQVENFST
                     FIKCIFTQFRIILGDFDYNAIDNANRILGPAYFVTYVFFVFFVLLNMFLAIINDTYSE
                     VKEELAGQKDELQLSDLLKQGYNKTLLRLRLRKERVSDVQKVLQGGEQEIQFEDFTNT
                     LRELGHAEHEITELTATFTKFDRDGNRILDEKEQEKMRQDLEEERVALNTEIEKLGRS
                     IVSSPQGKSGPEAARAGGWVSGEEFYMLTRRVLQLETVLEGVVSQIDAVGSKLKMLER
                     KGWLAPSPGVKEQAIWKHPQPAPAVTPDPWGVQGGQESEVPYKREEEALEERRLSRGE
                     IPTLQRS"
     exon            361..474
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            475..602
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            603..856
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            857..1081
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1082..1310
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1311..1481
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1482..1663
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1664..1784
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1785..1883
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1884..2005
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            2006..2132
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            2133..2251
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            2252..2375
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            2376..2460
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            2461..2790
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2771..2776
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /note="hexamer: AATAAA"
     polyA_site      2790
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /note="major polyA site"
ORIGIN      
        1 aaacagctgc tctcagacgc ctttccattt gctctctgct ggctaggctg ggctgtgcct
       61 ctgctccctc ttcctctagc tgagagtggg cacctggggt accgggcccc cccacctcat
      121 tccccatgaa tgctgtggga agtcctgagg ggcaggagct gcaaaagctg gggagtggag
      181 cctgggacaa ccccgcctac agtggtcccc cttccccaca cgggacgctg agagtctgca
      241 ccatctccag cacggggcct ctccagcccc aacccaagaa gcctgaagat gaaccccagg
      301 agacggcata caggacccag gtgtccagct gctgcctcca tatctgtcaa ggcatcagag
      361 gactttgggg aacaaccctg actgagaaca cagctgagaa ccgggaactt tatatcaaga
      421 ccaccctgag ggagctgttg gtatatattg tgttcctggt ggacatctgt ctactgacct
      481 atggaatgac aagctccagt gcttattact acaccaaagt gatgtctgag ctcttcttac
      541 atactccatc agacactgga gtctcctttc aggccatcag cagcatggcg gacttctggg
      601 attttgccca gggcccacta ctggacagtt tgtattggac caaatggtac aacaaccaga
      661 gcctgggcca tggctcccac tccttcatct actatgagaa catgctgctg ggggttccga
      721 ggctgcggca gctaaaggtc cgcaatgact cctgtgtggt gcatgaagac ttccgggagg
      781 acattctgag ctgctatgat gtctactctc cagacaaaga agaacaactc ccctttgggc
      841 ccttcaatgg cacagcgtgg acataccact cgcaggatga gttggggggc ttctcccact
      901 ggggcaggct cacaagctac agcggaggtg gctactacct ggaccttcca ggatcccgac
      961 agggtagtgc agaggctctc cgggcccttc aggaggggct gtggctggac aggggcactc
     1021 gagtggtgtt catcgacttc tcagtctaca atgccaatat caatcttttc tgtgtcctga
     1081 ggctggtggt ggagtttcca gctacaggag gtgccatccc atcctggcaa atccgcacag
     1141 tcaagctgat ccgctatgtc agcaactggg acttctttat cgttggctgt gaggtcatct
     1201 tctgcgtctt catcttctac tatgtggtgg aagagatcct ggagctccac attcaccggc
     1261 ttcgctacct cagcagcatc tggaacatac tggacctggt ggtcatcttg ctctccattg
     1321 tggctgtggg cttccacata ttccgaaccc tcgaggtgaa tcggctcatg gggaagctcc
     1381 tgcagcagcc aaacacgtat gcagactttg agttcctcgc cttctggcag acacagtaca
     1441 acaacatgaa tgctgtcaac ctcttcttcg cctggatcaa gatattcaag tacatcagct
     1501 tcaacaaaac catgacccag ctctcctcca cgctggcccg ctgtgccaag gacatcctgg
     1561 gcttcgccgt catgttcttc attgttttct tcgcctatgc ccaactcggc tacctgcttt
     1621 tcgggaccca agtggaaaac tttagcactt tcatcaagtg cattttcact cagttccgga
     1681 taatcctcgg ggactttgac tacaatgcta tcgacaatgc caaccgcatc ctgggccctg
     1741 cctactttgt cacctatgtc ttcttcgtct tcttcgtgct cctgaacatg ttcctggcca
     1801 tcatcaatga cacatattca gaggtcaagg aggagctggc tggacagaag gatgagctgc
     1861 aactttctga cctcctgaaa cagggctaca acaagaccct actaagactg cgtctgagga
     1921 aggagagggt ttcggatgtg cagaaggtcc tgcagggtgg ggagcaggag atccagtttg
     1981 aggatttcac caacacctta agggaactgg gacacgcaga gcatgaaatc actgagctca
     2041 cggccacctt caccaagttt gacagagatg ggaatcgtat tctggatgag aaggaacagg
     2101 aaaaaatgcg acaggacctg gaggaagaga gggtggccct caacactgag attgagaaac
     2161 taggccgatc tattgtgagc agcccacaag gcaaatcggg tccagaggct gccagagcag
     2221 gaggctgggt ttcaggagaa gaattctaca tgctcacaag gagagttctg cagctggaga
     2281 ctgtcctgga aggagtagtg tcccagattg atgctgtagg ctcaaagctg aaaatgctgg
     2341 agaggaaggg gtggctggct ccctccccag gcgtgaagga acaagctatt tggaagcacc
     2401 cgcagccagc cccagctgtg accccagacc cctggggagt ccagggtggg caggagagtg
     2461 aggttcccta taaaagagaa gaggaagcct tagaggagag gagactctcc cgtggtgaga
     2521 ttccaacgtt gcagaggagt taagtgtgag gcactcccgg agcaaagtct atgaaggatc
     2581 ttctgcaaga ggctgcctcc tggtccactg aacctggaaa ctgagtgggc tttaaccagg
     2641 agataaaaat ggagcctgaa gggaatcagg caaggaaatg aactcaggat tcagagatct
     2701 ttgaattaat atgtggtggg ttctgacatt attcttccat aagaccatgt gggtttccat
     2761 ggtggctatc aataaaactc cttaggaaaa
//
