LOCUS       NM_006245               2973 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens protein phosphatase 2 regulatory subunit B'delta
            (PPP2R5D), transcript variant 1, mRNA.
ACCESSION   NM_006245
VERSION     NM_006245.4
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 2973)
  AUTHORS   Oyama,N., Vaneynde,P., Reynhout,S., Pao,E.M., Timms,A., Fan,X.,
            Foss,K., Derua,R., Janssens,V., Chung,W. and Mirzaa,G.M.
  TITLE     Clinical, neuroimaging and molecular characteristics of
            PPP2R5D-related neurodevelopmental disorders: an expanded series
            with functional characterisation and genotype-phenotype analysis
  JOURNAL   J Med Genet 60 (5), 511-522 (2023)
   PUBMED   36216457
  REMARK    GeneRIF: Clinical, neuroimaging and molecular characteristics of
            PPP2R5D-related neurodevelopmental disorders: an expanded series
            with functional characterisation and genotype-phenotype analysis.
REFERENCE   2  (bases 1 to 2973)
  AUTHORS   Liu,R., Huang,Y., Li,C., Wang,P., Wang,Y. and Zhang,L.
  TITLE     A novel nonsense mutation in PPP2R5D is associated with
            neurodevelopmental disorders and shows incomplete penetrance in a
            Chinese pedigree
  JOURNAL   Clin Neurol Neurosurg 223, 107524 (2022)
   PUBMED   36403339
  REMARK    GeneRIF: A novel nonsense mutation in PPP2R5D is associated with
            neurodevelopmental disorders and shows incomplete penetrance in a
            Chinese pedigree.
REFERENCE   3  (bases 1 to 2973)
  AUTHORS   Anwar,M.I., Li,N., Zhou,Q., Chen,M., Hu,C., Wu,T., Chen,H., Li,Y.P.
            and Zhou,Y.
  TITLE     PPP2R5D promotes hepatitis C virus infection by binding to viral
            NS5B and enhancing viral RNA replication
  JOURNAL   Virol J 19 (1), 118 (2022)
   PUBMED   35836293
  REMARK    GeneRIF: PPP2R5D promotes hepatitis C virus infection by binding to
            viral NS5B and enhancing viral RNA replication.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2973)
  AUTHORS   Ning,P., Li,K., Ren,H., Yang,H., Xu,Y. and Yang,X.
  TITLE     Rare missense variants in the PPP2R5D gene associated with
            Parkinson's disease in the Han Chinese population
  JOURNAL   Neurosci Lett 776, 136564 (2022)
   PUBMED   35257824
  REMARK    GeneRIF: Rare missense variants in the PPP2R5D gene associated with
            Parkinson's disease in the Han Chinese population.
REFERENCE   5  (bases 1 to 2973)
  AUTHORS   Tabolacci,E., Pomponi,M.G., Remondini,L., Pietrobono,R.,
            Orteschi,D., Nobile,V., Pucci,C., Musto,E., Pane,M., Mercuri,E.M.,
            Neri,G., Genuardi,M., Chiurazzi,P. and Zollino,M.
  TITLE     Co-Occurrence of Fragile X Syndrome with a Second Genetic
            Condition: Three Independent Cases of Double Diagnosis
  JOURNAL   Genes (Basel) 12 (12), 1909 (2021)
   PUBMED   34946857
  REMARK    GeneRIF: Co-Occurrence of Fragile X Syndrome with a Second Genetic
            Condition: Three Independent Cases of Double Diagnosis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2973)
  AUTHORS   McCright,B., Rivers,A.M., Audlin,S. and Virshup,D.M.
  TITLE     The B56 family of protein phosphatase 2A (PP2A) regulatory subunits
            encodes differentiation-induced phosphoproteins that target PP2A to
            both nucleus and cytoplasm
  JOURNAL   J Biol Chem 271 (36), 22081-22089 (1996)
   PUBMED   8703017
REFERENCE   7  (bases 1 to 2973)
  AUTHORS   McCright,B., Brothman,A.R. and Virshup,D.M.
  TITLE     Assignment of human protein phosphatase 2A regulatory subunit genes
            b56alpha, b56beta, b56gamma, b56delta, and b56epsilon
            (PPP2R5A-PPP2R5E), highly expressed in muscle and brain, to
            chromosome regions 1q41, 11q12, 3p21, 6p21.1, and 7p11.2 --> p12
  JOURNAL   Genomics 36 (1), 168-170 (1996)
   PUBMED   8812429
REFERENCE   8  (bases 1 to 2973)
  AUTHORS   Tanabe,O., Nagase,T., Murakami,T., Nozaki,H., Usui,H., Nishito,Y.,
            Hayashi,H., Kagamiyama,H. and Takeda,M.
  TITLE     Molecular cloning of a 74-kDa regulatory subunit (B' or delta) of
            human protein phosphatase 2A
  JOURNAL   FEBS Lett 379 (1), 107-111 (1996)
   PUBMED   8566219
REFERENCE   9  (bases 1 to 2973)
  AUTHORS   McCright,B. and Virshup,D.M.
  TITLE     Identification of a new family of protein phosphatase 2A regulatory
            subunits
  JOURNAL   J Biol Chem 270 (44), 26123-26128 (1995)
   PUBMED   7592815
REFERENCE   10 (bases 1 to 2973)
  AUTHORS   Mirzaa,G., Foss,K., Sudnawa,K. and Chung,W.K.
  TITLE     PPP2R5D-Related Neurodevelopmental Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30676711
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA388594.1 and BC010692.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006245.3.
            
            Summary: The product of this gene belongs to the phosphatase 2A
            regulatory subunit B family. Protein phosphatase 2A is one of the
            four major Ser/Thr phosphatases, and it is implicated in the
            negative control of cell growth and division. It consists of a
            common heteromeric core enzyme, which is composed of a catalytic
            subunit and a constant regulatory subunit, that associates with a
            variety of regulatory subunits. The B regulatory subunit might
            modulate substrate selectivity and catalytic activity. This gene
            encodes a delta isoform of the regulatory subunit B56 subfamily.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript, and encodes the longest 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 :: SRR1803611.13725.1,
                                           SRR1803611.68421.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000485511.6/ ENSP00000417963.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                DA388594.1         72-106
            36-2973             BC010692.1         1-2938
FEATURES             Location/Qualifiers
     source          1..2973
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..2973
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /note="protein phosphatase 2 regulatory subunit B'delta"
                     /db_xref="GeneID:5528"
                     /db_xref="HGNC:HGNC:9312"
                     /db_xref="MIM:601646"
     exon            1..135
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /inference="alignment:Splign:2.1.0"
     CDS             109..1917
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="serine/threonine-protein phosphatase 2A 56 kDa
                     regulatory subunit delta isoform isoform 1"
                     /protein_id="NP_006236.1"
                     /db_xref="CCDS:CCDS4878.1"
                     /db_xref="GeneID:5528"
                     /db_xref="HGNC:HGNC:9312"
                     /db_xref="MIM:601646"
                     /translation="MPYKLKKEKEPPKVAKCTAKPSSSGKDGGGENTEEAQPQPQPQP
                     QPQAQSQPPSSNKRPSNSTPPPTQLSKIKYSGGPQIVKKERRQSSSRFNLSKNRELQK
                     LPALKDSPTQEREELFIQKLRQCCVLFDFVSDPLSDLKFKEVKRAGLNEMVEYITHSR
                     DVVTEAIYPEAVTMFSVNLFRTLPPSSNPTGAEFDPEEDEPTLEAAWPHLQLVYEFFL
                     RFLESPDFQPNIAKKYIDQKFVLALLDLFDSEDPRERDFLKTILHRIYGKFLGLRAYI
                     RRQINHIFYRFIYETEHHNGIAELLEILGSIINGFALPLKEEHKMFLIRVLLPLHKVK
                     SLSVYHPQLAYCVVQFLEKESSLTEPVIVGLLKFWPKTHSPKEVMFLNELEEILDVIE
                     PSEFSKVMEPLFRQLAKCVSSPHFQVAERALYYWNNEYIMSLISDNAARVLPIMFPAL
                     YRNSKSHWNKTIHGLIYNALKLFMEMNQKLFDDCTQQYKAEKQKGRFRMKEREEMWQK
                     IEELARLNPQYPMFRAPPPLPPVYSMETETPTAEDIQLLKRTVETEAVQMLKDIKKEK
                     VLLRRKSELPQDVYTIKALEAHKRAEEFLTASQEAL"
     exon            136..213
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /inference="alignment:Splign:2.1.0"
     exon            214..430
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /inference="alignment:Splign:2.1.0"
     exon            431..630
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /inference="alignment:Splign:2.1.0"
     exon            631..741
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /inference="alignment:Splign:2.1.0"
     exon            742..834
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /inference="alignment:Splign:2.1.0"
     exon            835..965
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /inference="alignment:Splign:2.1.0"
     exon            966..1025
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1134
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /inference="alignment:Splign:2.1.0"
     exon            1135..1188
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /inference="alignment:Splign:2.1.0"
     exon            1189..1359
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /inference="alignment:Splign:2.1.0"
     exon            1360..1487
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /inference="alignment:Splign:2.1.0"
     exon            1488..1589
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /inference="alignment:Splign:2.1.0"
     exon            1590..1662
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /inference="alignment:Splign:2.1.0"
     exon            1663..1779
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /inference="alignment:Splign:2.1.0"
     exon            1780..2973
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2953..2958
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /note="hexamer: AATAAA"
     polyA_site      2973
                     /gene="PPP2R5D"
                     /gene_synonym="B56D; B56delta; HJS1; MRD35"
                     /note="major polyA site"
ORIGIN      
        1 gcagcgcgca ggcggtggcg aagagacgcc gagcgggccg agtgcggccg agcaaagccg
       61 gagccggagc ggggccgcag gagacgggcc gggtccggac gggccgagat gccctataaa
      121 ctgaaaaagg agaaggagcc ccccaaggtt gccaaatgca cagccaagcc tagcagctcg
      181 ggcaaggatg gtggaggcga gaacactgag gaggcccagc cgcagcccca gccccagccc
      241 cagccccaag cccagtctca gccaccgtca tccaacaagc gtcccagcaa tagcacgccg
      301 ccccccacgc agctcagcaa aatcaagtac tcaggggggc cccagattgt caagaaggag
      361 cgacggcaaa gctcctcccg cttcaacctc agcaagaatc gggagctgca gaagcttcct
      421 gccctgaaag attcgccaac ccaggagcgg gaggagctgt ttatccagaa gctacgccag
      481 tgctgtgtcc tctttgactt cgtgtcagac ccactcagtg acctcaaatt caaggaggtg
      541 aagcgggcag gactcaacga gatggtggag tacatcaccc atagccgtga tgttgtcact
      601 gaggccattt accctgaggc tgtcaccatg ttttcagtga acctcttccg gacgctgcca
      661 ccttcatcga atcccacagg ggctgagttt gacccagagg aagatgagcc caccctggaa
      721 gctgcttggc cacatctcca gctcgtgtat gagttcttct tacgtttcct tgagtctcct
      781 gatttccagc caaacatagc caagaagtac atcgaccaga agtttgtact tgctctccta
      841 gacctatttg acagtgagga tcctcgagag cgggacttcc tcaagaccat tttgcatcgc
      901 atctatggca agtttttggg gctccgggct tatatccgta ggcagatcaa ccacatcttc
      961 tacaggttca tctacgagac ggagcatcac aacgggattg ctgagctcct ggagatcctg
     1021 ggcagcatca tcaatggctt tgccctgccc cttaaagaag agcacaagat gttcctcatc
     1081 cgtgtcctac ttccccttca caaggtcaag tccctgagtg tctaccaccc tcagctggca
     1141 tactgtgtgg tacaattcct ggagaaggag agcagtctga ctgagccggt aattgtggga
     1201 cttctcaagt tttggcccaa gacccacagc cccaaggagg tgatgttctt gaatgagctg
     1261 gaggagattc tggacgtcat tgaaccttct gagttcagca aagtgatgga acccctcttc
     1321 cgccagctgg ccaagtgtgt ctctagcccc catttccagg tggcagagcg tgctctctat
     1381 tactggaaca atgagtacat catgagcctg ataagtgaca atgctgcccg agtcctcccc
     1441 atcatgttcc ctgcactcta caggaactcc aagagccact ggaacaagac aatccatgga
     1501 ctgatctata atgccctgaa gttgtttatg gaaatgaatc agaagctgtt tgatgactgc
     1561 acacaacaat acaaggcaga gaagcagaag ggccggttcc gaatgaagga aagggaagag
     1621 atgtggcaaa aaatcgagga gctggcccgg cttaatcccc agtatcccat gttccgagcc
     1681 cctccaccac tgccccctgt gtactcgatg gagacagaga cccccacagc tgaggacatc
     1741 cagcttctga agaggactgt ggagactgag gctgttcaga tgctaaaaga catcaagaag
     1801 gagaaagtgc tgctgcggag gaagtcggag ctgccccagg acgtgtacac catcaaggca
     1861 ctggaggcgc acaagcgggc ggaagagttc ctaactgcca gccaggaggc tctctgaccc
     1921 ctcacgttcc taccacaggg ccacagccca cacagccctg ggacactgcc ctggccctcc
     1981 atactctgct ccctactggc tgtcttgggg gaaggcagcg cctctctagc tactcaaggg
     2041 agggggatgt gggcacttga agcagggaca cccacagaat ggtccctctt ctccccaaaa
     2101 ggtgttcatg cctccctgtg gctagtacag gctgagcact aagatgctta gtgctcagac
     2161 aacctgggga tgcctgtccc ctacctgctc ctcacccaca gctacctgag gctgctctga
     2221 gaagtacaca caggaataca tacgctcctc tattcttccc ttcatcctca tttgaacgcc
     2281 aggtatctcc cctcctctct ctcccctgca gaggcatgta gggaacagca ggagattatt
     2341 ctcaccaaag ttatgtcaag ccccattggt cccagagtag ctgaagggaa gccaaccccc
     2401 ctgcagcaca aataggcccc ccagtcccag ccgtgtgctg gcagataggg ttgtattatt
     2461 tcttcttacc ccatgcctga ccaagggagg tcaaaaggag aaaagtatag gctgtggaca
     2521 ataactgatg aatatagggc ccagatggac caagtggggc cggggaggga tgaataaaca
     2581 ccctaccccg tgccctgtct ttggtgagca gcagccctgg ggtcacagac atggaaggga
     2641 ccaccctggg gctgactgct tttctgtgct gttggttccc aaaactagaa agaaggaagc
     2701 agggagcggt gccccaagca tggctcctgc caacacctat ttatttcctt gtttgtgcta
     2761 tgctgggcag gccttctctt gtcccttata ggtaccttgg aggggccagg ggctgaggaa
     2821 ggccggaccc aggttccagg ggcgcaggca gtgcggcttt tggctgtgta catagggtgc
     2881 tttattctcc acagagtgat acatgctaag gtgggttggg cttggaccga tgtccccata
     2941 tgtacagaac tgaataaagt gggtctctga gaa
//
