LOCUS       NM_001005242            4229 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens plakophilin 2 (PKP2), transcript variant 2a, mRNA.
ACCESSION   NM_001005242
VERSION     NM_001005242.3
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 4229)
  AUTHORS   Gibb,J., Wall,E., Fields,E., Seale,A., Armstrong,C., Bamber,A.,
            Daubeney,P., Jacobs-Pearson,M., Marton,T., Stals,K., Low,K.,
            Kaski,J.P. and Spentzou,G.
  TITLE     Biallelic PKP2 loss of function variants are associated with a
            lethal perinatal-onset biventricular dilated cardiomyopathy with
            excessive trabeculations and ventricular septal defects
  JOURNAL   J Med Genet 61 (4), 405-409 (2024)
   PUBMED   38050058
  REMARK    GeneRIF: Biallelic PKP2 loss of function variants are associated
            with a lethal perinatal-onset biventricular dilated cardiomyopathy
            with excessive trabeculations and ventricular septal defects.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4229)
  AUTHORS   Dai,M., Su,Y. and Wu,Z.
  TITLE     Downregulated expression of plakophilin-2 gene in patients with
            colon adenocarcinoma predicts an unfavorable prognosis and immune
            infiltrate
  JOURNAL   J Gene Med 26 (1), e3592 (2024)
   PUBMED   37726168
  REMARK    GeneRIF: Downregulated expression of plakophilin-2 gene in patients
            with colon adenocarcinoma predicts an unfavorable prognosis and
            immune infiltrate.
REFERENCE   3  (bases 1 to 4229)
  AUTHORS   Lluch,A., Latorre,J., Serena-Maione,A., Espadas,I.,
            Caballano-Infantes,E., Moreno-Navarrete,J.M., Oliveras-Canellas,N.,
            Ricart,W., Malagon,M.M., Martin-Montalvo,A., Birchmeier,W.,
            Szymanski,W., Graumann,J., Gomez-Serrano,M., Sommariva,E.,
            Fernandez-Real,J.M. and Ortega,F.J.
  TITLE     Impaired Plakophilin-2 in obesity breaks cell cycle dynamics to
            breed adipocyte senescence
  JOURNAL   Nat Commun 14 (1), 5106 (2023)
   PUBMED   37607954
  REMARK    GeneRIF: Impaired Plakophilin-2 in obesity breaks cell cycle
            dynamics to breed adipocyte senescence.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4229)
  AUTHORS   Robles-Mezcua,A., Ruiz-Salas,A., Medina-Palomo,C.,
            Robles-Mezcua,M., Diaz-Exposito,A., Ortega-Jimenez,M.V.,
            Gimeno-Blanes,J.R., Jimenez-Navarro,M.F. and Garcia-Pinilla,J.M.
  TITLE     The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2
            Associated with Arrhythmogenic Cardiomyopathy in 8 Families from
            Malaga, Spain
  JOURNAL   Genes (Basel) 14 (7), 1468 (2023)
   PUBMED   37510372
  REMARK    GeneRIF: The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene
            PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families
            from Malaga, Spain.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4229)
  AUTHORS   Schmidt,A., Langbein,L., Pratzel,S., Rode,M., Rackwitz,H.R. and
            Franke,W.W.
  TITLE     Plakophilin 3--a novel cell-type-specific desmosomal plaque protein
  JOURNAL   Differentiation 64 (5), 291-306 (1999)
   PUBMED   10374265
REFERENCE   6  (bases 1 to 4229)
  AUTHORS   Mertens,C., Kuhn,C., Moll,R., Schwetlick,I. and Franke,W.W.
  TITLE     Desmosomal plakophilin 2 as a differentiation marker in normal and
            malignant tissues
  JOURNAL   Differentiation 64 (5), 277-290 (1999)
   PUBMED   10374264
REFERENCE   7  (bases 1 to 4229)
  AUTHORS   Bonne,S., van Hengel,J. and van Roy,F.
  TITLE     Chromosomal mapping of human armadillo genes belonging to the
            p120(ctn)/plakophilin subfamily
  JOURNAL   Genomics 51 (3), 452-454 (1998)
   PUBMED   9721216
  REMARK    GeneRIF: This paper incorrectly maps the locus to 12p13.  A later
            paper by the primary authors corrects the map location to 12p11
            (PMID:10828611).
REFERENCE   8  (bases 1 to 4229)
  AUTHORS   Mertens,C., Kuhn,C. and Franke,W.W.
  TITLE     Plakophilins 2a and 2b: constitutive proteins of dual location in
            the karyoplasm and the desmosomal plaque
  JOURNAL   J Cell Biol 135 (4), 1009-1025 (1996)
   PUBMED   8922383
REFERENCE   9  (bases 1 to 4229)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301690
REFERENCE   10 (bases 1 to 4229)
  AUTHORS   McNally,E., MacLeod,H. and Dellefave-Castillo,L.
  TITLE     Arrhythmogenic Right Ventricular Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301310
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB454360.1, BC126199.1,
            AC087588.10 and AW439621.1.
            
            On Nov 29, 2019 this sequence version replaced NM_001005242.2.
            
            Summary: This gene encodes a member of the arm-repeat (armadillo)
            and plakophilin gene families. Plakophilin proteins contain
            numerous armadillo repeats, localize to cell desmosomes and nuclei,
            and participate in linking cadherins to intermediate filaments in
            the cytoskeleton. This gene may regulate the signaling activity of
            beta-catenin and is required to maintain transcription of genes
            that control intracellular calcium cycling including ryanodine
            receptor 2, ankyrin-B, triadin, and calcium channel,
            voltage-dependent, L type, alpha 1C. Mutations in this gene are
            associated with different inherited cardiac conditions including
            Arrythmogenic Cardiomyopathy, Brugada Syndrome, and Idiopathic
            Ventricular Fibrillation. A processed pseudogene with high
            similarity to this gene has been mapped to chromosome 12p13.
            [provided by RefSeq, May 2022].
            
            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 :: BC094762.1, SRR14038193.175415.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267764 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000340811.9/ ENSP00000342800.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 DB454360.1         147-148
            3-2766              BC126199.1         1-2764
            2767-4130           AC087588.10        91545-92908
            4131-4229           AW439621.1         10-108              c
FEATURES             Location/Qualifiers
     source          1..4229
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     gene            1..4229
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /note="plakophilin 2"
                     /db_xref="GeneID:5318"
                     /db_xref="HGNC:HGNC:9024"
                     /db_xref="MIM:602861"
     exon            1..269
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /inference="alignment:Splign:2.1.0"
     CDS             47..2560
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /note="isoform 2a is encoded by transcript variant 2a"
                     /codon_start=1
                     /product="plakophilin-2 isoform 2a"
                     /protein_id="NP_001005242.2"
                     /db_xref="CCDS:CCDS31771.1"
                     /db_xref="GeneID:5318"
                     /db_xref="HGNC:HGNC:9024"
                     /db_xref="MIM:602861"
                     /translation="MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSS
                     GRGGQTVKSLRIQEQVQQTLARKGRSSVGNGNLHRTSSVPEYVYNLHLVENDFVGGRS
                     PVPKTYDMLKAGTTATYEGRWGRGTAQYSSQKSVEERSLRHPLRRLEISPDSSPERAH
                     YTHSDYQYSQRSQAGHTLHHQESRRAALLVPPRYARSEIVGVSRAGTTSRQRHFDTYH
                     RQYQHGSVSDTVFDSIPANPALLTYPRPGTSRSMGNLLEKENYLTAGLTVGQVRPLVP
                     LQPVTQNRASRSSWHQSSFHSTRTLREAGPSVAVDSSGRRAHLTVGQAAAGGSGNLLT
                     ERSTFTDSQLGNADMEMTLERAVSMLEADHMLPSRISAAATFIQHECFQKSEARKRVN
                     QLRGILKLLQLLKVQNEDVQRAVCGALRNLVFEDNDNKLEVAELNGVPRLLQVLKQTR
                     DLETKKQITGLLWNLSSNDKLKNLMITEALLTLTENIIIPFSGWPEGDYPKANGLLDF
                     DIFYNVTGCLRNMSSAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPDDKATENCVCI
                     LHNLSYQLEAELPEKYSQNIYIQNRNIQTDNNKSIGCFGSRSRKVKEQYQDVPMPEEK
                     SNPKGVEWLWHSIVIRMYLSLIAKSVRNYTQEASLGALQNLTAGSGPMPTSVAQTVVQ
                     KESGLQHTRKMLHVGDPSVKKTAISLLRNLSRNLSLQNEIAKETLPDLVSIIPDTVPS
                     TDLLIETTASACYTLNNIIQNSYQNARDLLNTGGIQKIMAISAGDAYASNKASKAASV
                     LLYSLWAHTELHHAYKKAQFKKTDFVNSRTAKAYHSLKD"
     exon            270..382
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /inference="alignment:Splign:2.1.0"
     exon            383..1080
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1216
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..1424
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /inference="alignment:Splign:2.1.0"
     exon            1425..1602
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /inference="alignment:Splign:2.1.0"
     exon            1603..1720
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /inference="alignment:Splign:2.1.0"
     exon            1721..1885
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /inference="alignment:Splign:2.1.0"
     exon            1886..2059
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /inference="alignment:Splign:2.1.0"
     exon            2060..2213
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /inference="alignment:Splign:2.1.0"
     exon            2214..2403
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /inference="alignment:Splign:2.1.0"
     exon            2404..2491
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /inference="alignment:Splign:2.1.0"
     exon            2492..4229
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4199..4204
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /note="hexamer: AATAAA"
     polyA_site      4229
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /note="major polyA site"
ORIGIN      
        1 gcgagtccag aggcaggcga gcagctcggt cgcccccacc ggccccatgg cagcccccgg
       61 cgccccagct gagtacggct acatccggac cgtcctgggc cagcagatcc tgggacaact
      121 ggacagctcc agcctggcgc tgccctccga ggccaagctg aagctggcgg ggagcagcgg
      181 ccgcggcggc cagacagtca agagcctgcg gatccaggag caggtgcagc agaccctcgc
      241 ccggaagggc cgcagctccg tgggcaacgg aaatcttcac cgaaccagca gtgttcctga
      301 gtatgtctac aacctacact tggttgaaaa tgattttgtt ggaggccgtt cccctgttcc
      361 taaaacctat gacatgctaa aggctggcac aactgccact tatgaaggtc gctggggaag
      421 aggaacagca cagtacagct cccagaagtc cgtggaagaa aggtccttga ggcatcctct
      481 gaggagactg gagatttctc ctgacagcag cccggagagg gctcactaca cgcacagcga
      541 ttaccagtac agccagagaa gccaggctgg gcacaccctg caccaccaag aaagcaggcg
      601 ggccgccctc ctagtgccac cgagatatgc tcgttccgag atcgtggggg tcagccgtgc
      661 tggcaccaca agcaggcagc gccactttga cacataccac agacagtacc agcatggctc
      721 tgttagcgac accgtttttg acagcatccc tgccaacccg gccctgctca cgtaccccag
      781 gccagggacc agccgcagca tgggcaacct cttggagaag gagaactacc tgacggcagg
      841 gctcactgtc gggcaggtca ggccgctggt gcccctgcag cccgtcactc agaacagggc
      901 ttccaggtcc tcctggcatc agagctcctt ccacagcacc cgcacgctga gggaagctgg
      961 gcccagtgtc gccgtggatt ccagcgggag gagagcgcac ttgactgtcg gccaggcggc
     1021 cgcaggggga agtgggaatc tgctcactga gagaagcact ttcactgact cccagctggg
     1081 gaatgcagac atggagatga ctctggagcg agcagtgagt atgctcgagg cagaccacat
     1141 gctgccatcc aggatttctg ctgcagctac tttcatacag cacgagtgct tccagaaatc
     1201 tgaagctcgg aagagggtta accagcttcg tggcatcctc aagcttctgc agctcctaaa
     1261 agttcagaat gaagacgttc agcgagctgt gtgtggggcc ttgagaaact tagtatttga
     1321 agacaatgac aacaaattgg aggtggctga actaaatggg gtacctcggc tgctccaggt
     1381 gctgaagcaa accagagact tggagactaa aaaacaaata acaggtttgc tgtggaattt
     1441 gtcatctaat gacaaactca agaatctcat gataacagaa gcattgctta cgctgacgga
     1501 gaatatcatc atcccctttt ctgggtggcc tgaaggagac tacccaaaag caaatggttt
     1561 gctcgatttt gacatattct acaacgtcac tggatgccta agaaacatga gttctgctgg
     1621 cgctgatggg agaaaagcga tgagaagatg tgacggactc attgactcac tggtccatta
     1681 tgtcagagga accattgcag attaccagcc agatgacaag gccacggaga attgtgtgtg
     1741 cattcttcat aacctctcct accagctgga ggcagagctc ccagagaaat attcccagaa
     1801 tatctatatt caaaaccgga atatccagac tgacaacaac aaaagtattg gatgttttgg
     1861 cagtcgaagc aggaaagtaa aagagcaata ccaggacgtg ccgatgccgg aggaaaagag
     1921 caaccccaag ggcgtggagt ggctgtggca ttccattgtt ataaggatgt atctgtcctt
     1981 gatcgccaaa agtgtccgca actacacaca agaagcatcc ttaggagctc tgcagaacct
     2041 cacggccgga agtggaccaa tgccgacatc agtggctcag acagttgtcc agaaggaaag
     2101 tggcctgcag cacacccgaa agatgctgca tgttggtgac ccaagtgtga aaaagacagc
     2161 catctcgctg ctgaggaatc tgtcccggaa tctttctctg cagaatgaaa ttgccaaaga
     2221 aactctccct gatttggttt ccatcattcc tgacacagtc ccgagtactg accttctcat
     2281 tgaaactaca gcctctgcct gttacacatt gaacaacata atccaaaaca gttaccagaa
     2341 tgcacgcgac cttctaaaca ccgggggcat ccagaaaatt atggccatta gtgcaggcga
     2401 tgcctatgcc tccaacaaag caagtaaagc tgcttccgtc cttctgtatt ctctgtgggc
     2461 acacacggaa ctgcatcatg cctacaagaa ggctcagttt aagaagacag attttgtcaa
     2521 cagccggact gccaaagcct accactccct taaagactga ggaaaatgac aaagtattct
     2581 cggctgcaaa aatccccaaa ggaaaacacc tatttttcta ctacccagcc caagaaacct
     2641 caaaagcatg ccttgtttct atccttctct atttccgtgg tcccctgaat ccagaaaaca
     2701 aatagaacat aattttatga gtcttccaga agacctttgc aagtttgcca ccagtagata
     2761 ccggccacag gctcgacaaa tagtggtctt tgttattagg gcttatggta catggcttcc
     2821 tggaatcaaa atgtgaattc atgtggaagg gacattaatc caataaataa ggaaagaagc
     2881 tgttgcatta ctgggatttt aaaagtttga tttacattta tattcctttt ctggttccca
     2941 tgttttgtca ctcatgtgca cattgcttcg ccattgggcc tccagtgtat tgttctgcag
     3001 tgttgaaaca gaatggaaat gacaagaaat atctgcagtt atccaggaga aagtataatg
     3061 gcaaaattat tggtttcttt ctttactttg tgcttgtttt tatccccttg ggttgttttt
     3121 ctctgatttt taaataaact taagaaattt agattacaga gtatgcatga ctgtaagaaa
     3181 aagaaattga gaggaagtga tcatagcaaa ttaaagaagt cttttcctcc cagaacttaa
     3241 agtaaaataa aaaataaata aataaataaa atcttttcca cagagaaagg caactgtgat
     3301 gataaaattt aacgttcccc caaacactga gtcaatgaga tttttctcag gagatacttt
     3361 acctataaca acgccgttaa atccaaatct cttctaaacg atggcattct atgtaatgcc
     3421 tttcctggac ttttttggcc actgccctgg actagtgaaa gaatggactc tatctttatc
     3481 tgcaagagga actaaggcct tctctcagac tgcctggcca gcctggggca ctgaaaatac
     3541 ggctcatgtt aatgagttac attatcagcc agcccagcct tgcccaccat ttaagaaata
     3601 tcacagagcc actagatctc atatgatctt cttcaagcca ttattttaac tcaagaaaac
     3661 tctagagaag aaaagtgaag aagtcatgtt gaagaagatg taagaatgtg tcaagaccat
     3721 ccagaaatga tatgagaaat actgatattt taaatggttg acatcatcca gcgaaatgaa
     3781 tctacattaa atgttgtttt aactgcgcta tgattaaaac cattcatata gagttagtct
     3841 ttacaactac tattctgtta tttttttttt taatctgaca acatttgtcc taagtaagat
     3901 aagcaaaaaa attcttcaac tccttttggc aagaaaactg taacagaaaa taaattttga
     3961 atgtgtactt aagtctttat tatatttgaa gcaatttttt ttcaatttta aaagctgaat
     4021 gaagacaact taggttgcta acctagttca aaatgaaatt atttagatac caatttttaa
     4081 aatactggag agaatttata tgtctttttc cagagttctg atgataagca tttggagtgc
     4141 atttattcct ccagataata aatgtgtgtt cagaactttt tgtgtttttt aaggcattaa
     4201 taaagccttc gataatatta aatacaaaa
//
