LOCUS       NM_001369919            1822 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens popeye domain cAMP effector 2 (POPDC2), transcript
            variant 3, mRNA.
ACCESSION   NM_001369919
VERSION     NM_001369919.2
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 1822)
  AUTHORS   Swan,A.H., Schindler,R.F.R., Savarese,M., Mayer,I., Rinne,S.,
            Bleser,F., Schanzer,A., Hahn,A., Sabatelli,M., Perna,F.,
            Chapman,K., Pfuhl,M., Spivey,A.C., Decher,N., Udd,B., Tasca,G. and
            Brand,T.
  TITLE     Differential effects of mutations of POPDC proteins on heteromeric
            interaction and membrane trafficking
  JOURNAL   Acta Neuropathol Commun 11 (1), 4 (2023)
   PUBMED   36624536
  REMARK    GeneRIF: Differential effects of mutations of POPDC proteins on
            heteromeric interaction and membrane trafficking.
            Erratum:[Acta Neuropathol Commun. 2023 Jul 11;11(1):114. doi:
            10.1186/s40478-023-01591-0.. PMID: 37434226]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1822)
  AUTHORS   Holt,I., Fuller,H.R., Schindler,R.F.R., Shirran,S.L., Brand,T. and
            Morris,G.E.
  TITLE     An interaction of heart disease-associated proteins POPDC1/2 with
            XIRP1 in transverse tubules and intercalated discs
  JOURNAL   BMC Mol Cell Biol 21 (1), 88 (2020)
   PUBMED   33261556
  REMARK    GeneRIF: An interaction of heart disease-associated proteins
            POPDC1/2 with XIRP1 in transverse tubules and intercalated discs.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1822)
  AUTHORS   Rinne,S., Ortiz-Bonnin,B., Stallmeyer,B., Kiper,A.K.,
            Fortmuller,L., Schindler,R.F.R., Herbort-Brand,U., Kabir,N.S.,
            Dittmann,S., Friedrich,C., Zumhagen,S., Gualandi,F., Selvatici,R.,
            Rapezzi,C., Arbustini,E., Ferlini,A., Fabritz,L., Schulze-Bahr,E.,
            Brand,T. and Decher,N.
  TITLE     POPDC2 a novel susceptibility gene for conduction disorders
  JOURNAL   J Mol Cell Cardiol 145, 74-83 (2020)
   PUBMED   32535041
  REMARK    GeneRIF: POPDC2 a novel susceptibility gene for conduction
            disorders.
REFERENCE   4  (bases 1 to 1822)
  AUTHORS   Brand,T. and Schindler,R.
  TITLE     New kids on the block: The Popeye domain containing (POPDC) protein
            family acting as a novel class of cAMP effector proteins in
            striated muscle
  JOURNAL   Cell Signal 40, 156-165 (2017)
   PUBMED   28939104
  REMARK    GeneRIF: recently a novel family of cAMP effector proteins emerged
            and was termed the Popeye domain containing (POPDC) family, which
            consists of three members POPDC1, POPDC2 and POPDC3. POPDC proteins
            are transmembrane proteins, which are abundantly present in
            striated and smooth muscle cells. POPDC proteins bind cAMP with
            high affinity comparable to PKA
            Review article
REFERENCE   5  (bases 1 to 1822)
  AUTHORS   Schindler,R.F., Scotton,C., Zhang,J., Passarelli,C.,
            Ortiz-Bonnin,B., Simrick,S., Schwerte,T., Poon,K.L., Fang,M.,
            Rinne,S., Froese,A., Nikolaev,V.O., Grunert,C., Muller,T.,
            Tasca,G., Sarathchandra,P., Drago,F., Dallapiccola,B., Rapezzi,C.,
            Arbustini,E., Di Raimo,F.R., Neri,M., Selvatici,R., Gualandi,F.,
            Fattori,F., Pietrangelo,A., Li,W., Jiang,H., Xu,X., Bertini,E.,
            Decher,N., Wang,J., Brand,T. and Ferlini,A.
  TITLE     POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting
            protein trafficking
  JOURNAL   J Clin Invest 126 (1), 239-253 (2016)
   PUBMED   26642364
REFERENCE   6  (bases 1 to 1822)
  AUTHORS   Andree,B., Hillemann,T., Kessler-Icekson,G., Schmitt-John,T.,
            Jockusch,H., Arnold,H.H. and Brand,T.
  TITLE     Isolation and characterization of the novel popeye gene family
            expressed in skeletal muscle and heart
  JOURNAL   Dev Biol 223 (2), 371-382 (2000)
   PUBMED   10882522
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC023494.31 and AC073352.22.
            
            On Apr 22, 2020 this sequence version replaced NM_001369919.1.
            
            Summary: This gene encodes a member of the POP family of proteins
            which contain three putative transmembrane domains. This membrane
            associated protein is predominantly expressed in skeletal and
            cardiac muscle, and may have an important function in these
            tissues. [provided by RefSeq, Jul 2008].
            
            Sequence Note:.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR279832.9158.1,
                                           SRR14038195.2521447.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2159607, SAMN03267756
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000493094.6/ ENSP00000417250.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-657               AC023494.31        37928-38584
            658-766             AC023494.31        43904-44012
            767-1316            AC023494.31        49849-50398
            1317-1323           AC023494.31        55956-55962
            1324-1822           AC073352.22        1-499
FEATURES             Location/Qualifiers
     source          1..1822
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.33"
     gene            1..1822
                     /gene="POPDC2"
                     /gene_synonym="POP2"
                     /note="popeye domain cAMP effector 2"
                     /db_xref="GeneID:64091"
                     /db_xref="HGNC:HGNC:17648"
                     /db_xref="MIM:605823"
     exon            1..657
                     /gene="POPDC2"
                     /gene_synonym="POP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             167..1273
                     /gene="POPDC2"
                     /gene_synonym="POP2"
                     /note="isoform 3 is encoded by transcript variant 3;
                     popeye protein 2; popeye domain-containing protein 2;
                     popeye domain containing 2"
                     /codon_start=1
                     /product="popeye domain-containing protein 2 isoform 3"
                     /protein_id="NP_001356848.1"
                     /db_xref="CCDS:CCDS93344.1"
                     /db_xref="GeneID:64091"
                     /db_xref="HGNC:HGNC:17648"
                     /db_xref="MIM:605823"
                     /translation="MSANSSRVGQLLLQGSACIRWKQDVEGAVYHLANCLLLLGFMGG
                     SGVYGCFYLFGFLSAGYLCCVLWGWFSACGLDIVLWSFLLAVVCLLQLAHLVYRLRED
                     TLPEEFDLLYKTLCLPLQVPLQTYKEIVHCCEEQVLTLATEQTYAVEGETPINRLSLL
                     LSGRVRVSQDGQFLHYIFPYQFMDSPEWESLQPSEEGVFQVTLTAETSCSYISWPRKS
                     LHLLLTKERYISCLFSALLGYDISEKLYTLNDKLFAKFGLRFDIRLPSLYHVLGPTAA
                     DAGPESEKGDEEVCEPAVSPPQATPTSLQQTPPCSTPPATTNFPAPPTRARLSRPDSG
                     ILGEDSTSLVLEDFEEVSGSESFMDYRSDGEYMR"
     exon            658..766
                     /gene="POPDC2"
                     /gene_synonym="POP2"
                     /inference="alignment:Splign:2.1.0"
     exon            767..1316
                     /gene="POPDC2"
                     /gene_synonym="POP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1317..1822
                     /gene="POPDC2"
                     /gene_synonym="POP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1801..1806
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POPDC2"
                     /gene_synonym="POP2"
                     /note="hexamer: AATAAA"
     polyA_site      1822
                     /gene="POPDC2"
                     /gene_synonym="POP2"
                     /note="major polyA site"
ORIGIN      
        1 atcattcctt cccaaagcca ccggaagcat tccttctagg aaaggtggag tcggtagtga
       61 gaagccggag gtgagaagac ccctgagcgg atggattcat tcattttctg aatttcctat
      121 gtgaggacag tattagagcc cagtgaggct ttgagaggcc ccaaagatga gcgccaacag
      181 cagcagagtg ggccagcttc tcttgcaggg ttcagcgtgc attaggtgga agcaggatgt
      241 ggaaggggct gtctaccacc tagccaactg cctcttactc ctgggcttca tggggggcag
      301 tggggtgtat ggatgcttct atctttttgg cttcctgagt gcaggttacc tgtgctgcgt
      361 gctgtggggc tggttcagtg cctgtggcct ggacattgtt ctttggagct tcctgctggc
      421 tgtggtctgc ctgctccagc tggcacacct ggtataccgc ctgcgtgagg acaccctccc
      481 tgaggagttt gacctcctct acaagacgct gtgcctgccc ttgcaggtgc ccctacagac
      541 atacaaggag attgttcact gctgcgagga gcaggtctta actctggcca ctgaacagac
      601 ctatgctgtg gagggtgaga cacccatcaa ccgcctgtcc ctgctgctct ctggccgggt
      661 tcgtgtgagc caggatgggc agtttctgca ctacatcttt ccataccagt tcatggactc
      721 tcctgagtgg gaatcactac agccttctga ggagggggtg ttccaggtca ctctgactgc
      781 tgagacctca tgtagctaca tttcctggcc ccggaaaagt ctccatcttc ttctgaccaa
      841 agagcgatac atctcctgcc tcttctcggc tctgctggga tatgacatct cagagaagct
      901 ctacactctc aatgacaagc tctttgctaa gtttgggctg cgctttgaca tccgccttcc
      961 cagcctctac catgtcctgg gtcccactgc tgcagatgct ggaccagagt ccgagaaggg
     1021 tgatgaggaa gtctgtgagc cagctgtgtc ccctcctcag gccacaccca cctctctcca
     1081 gcaaacaccc ccttgttcta cccctccagc taccaccaac tttcctgcac ctcctacccg
     1141 ggccaggttg tccaggccag acagtggcat actgggtgag gactccacca gtctggtgct
     1201 ggaggatttt gaggaggtgt caggatcaga atcgtttatg gattatagga gtgatgggga
     1261 gtacatgagg tgaagggaga actaacatgg gcacagccac cggctcagga tcctatcttc
     1321 tagaattcct ctccagagct actctcaagt tatatccagg ggacaggccc ctttggctcc
     1381 aacccacacg cctgaacttt aaggatcatt ggactatctt ctctgtggcc agcgcagctc
     1441 tcttctgtgt tcacagaatg gccactgata ggcatgcctc ttttcccacc cactggaagg
     1501 ctcacaggca aggtgagaga ggacacagaa ggtgccaaca ctgtcgctac agtaaggacc
     1561 tgaagtgact ttgagaaatt caccctcaca aaccttcctt caggagcagg cattggtagt
     1621 gcagaggcac agattccgtc ctttaccagc tgcagaatct tgggcaagtt acatagcctc
     1681 tgtgagcctc atcggtaaac agtgggggtt atgaaaccca cctcacaggg ttgttgtgag
     1741 gatccaatga gttgatttag gtaagcacct agcacatgcc gtggcaccaa gtaagcactc
     1801 aataaatcac tcaactcctt tc
//
