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2024-03-29 01:16:43, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_181876               4092 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens protein phosphatase 2, regulatory subunit B, gamma
            (PPP2R2C), transcript variant 2, mRNA.
ACCESSION   NM_181876
VERSION     NM_181876.2  GI:109255253
KEYWORDS    RefSeq.
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 4092)
  AUTHORS   Jacob,C., Nguyen,T.T., Weissflog,L., Herrmann,M., Liedel,S.,
            Zamzow,K., Jans,T., Renner,T., Reichert,S., Gross-Lesch,S.,
            Lesch,K.P. and Reif,A.
  TITLE     PPP2R2C as a candidate gene of a temperament and character
            trait-based endophenotype of ADHD
  JOURNAL   Atten Defic Hyperact Disord 4 (3), 145-152 (2012)
   PUBMED   22664926
  REMARK    GeneRIF: evidence suggests that allelic variation in PPP2R2C may be
            associated with a variety of personality traits and ADHD per se.
REFERENCE   2  (bases 1 to 4092)
  AUTHORS   Kim,S. and Webster,M.J.
  TITLE     Integrative genome-wide association analysis of cytoarchitectural
            abnormalities in the prefrontal cortex of psychiatric disorders
  JOURNAL   Mol. Psychiatry 16 (4), 452-461 (2011)
   PUBMED   20308991
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   3  (bases 1 to 4092)
  AUTHORS   Backx,L., Vermeesch,J., Pijkels,E., de Ravel,T., Seuntjens,E. and
            Van Esch,H.
  TITLE     PPP2R2C, a gene disrupted in autosomal dominant intellectual
            disability
  JOURNAL   Eur J Med Genet 53 (5), 239-243 (2010)
   PUBMED   20601260
  REMARK    GeneRIF: encoding a subunit of proteinphosphatase 2A with a unique
            expression pattern in brain and a role in synaptic plasticity
REFERENCE   4  (bases 1 to 4092)
  AUTHORS   Rung,J., Cauchi,S., Albrechtsen,A., Shen,L., Rocheleau,G.,
            Cavalcanti-Proenca,C., Bacot,F., Balkau,B., Belisle,A.,
            Borch-Johnsen,K., Charpentier,G., Dina,C., Durand,E., Elliott,P.,
            Hadjadj,S., Jarvelin,M.R., Laitinen,J., Lauritzen,T., Marre,M.,
            Mazur,A., Meyre,D., Montpetit,A., Pisinger,C., Posner,B.,
            Poulsen,P., Pouta,A., Prentki,M., Ribel-Madsen,R., Ruokonen,A.,
            Sandbaek,A., Serre,D., Tichet,J., Vaxillaire,M., Wojtaszewski,J.F.,
            Vaag,A., Hansen,T., Polychronakos,C., Pedersen,O., Froguel,P. and
            Sladek,R.
  TITLE     Genetic variant near IRS1 is associated with type 2 diabetes,
            insulin resistance and hyperinsulinemia
  JOURNAL   Nat. Genet. 41 (10), 1110-1115 (2009)
   PUBMED   19734900
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Erratum:[Nat Genet. 2009 Oct;41(10):1156]
REFERENCE   5  (bases 1 to 4092)
  AUTHORS   Eichhorn,P.J., Creyghton,M.P., Wilhelmsen,K., van Dam,H. and
            Bernards,R.
  TITLE     A RNA interference screen identifies the protein phosphatase 2A
            subunit PR55gamma as a stress-sensitive inhibitor of c-SRC
  JOURNAL   PLoS Genet. 3 (12), E218 (2007)
   PUBMED   18069897
  REMARK    GeneRIF: novel mechanism of c-SRC regulation whereby in response to
            stress c-SRC activity is regulated, at least in part, through loss
            of the interaction with its inhibitor, PR55gamma
REFERENCE   6  (bases 1 to 4092)
  AUTHORS   Hu,P., Yu,L., Zhang,M., Zheng,L., Zhao,Y., Fu,Q. and Zhao,S.
  TITLE     Molecular cloning and mapping of the brain-abundant B1gamma subunit
            of protein phosphatase 2A, PPP2R2C, to human chromosome 4p16
  JOURNAL   Genomics 67 (1), 83-86 (2000)
   PUBMED   10945473
REFERENCE   7  (bases 1 to 4092)
  AUTHORS   Torres,R., Ide,S.E., Dehejia,A., Baras,A. and Polymeropoulos,M.H.
  TITLE     Genomic structure and localization of the human protein phosphatase
            2A BRgamma regulatory subunit
  JOURNAL   DNA Res. 6 (5), 323-327 (1999)
   PUBMED   10574460
REFERENCE   8  (bases 1 to 4092)
  AUTHORS   Strack,S., Zaucha,J.A., Ebner,F.F., Colbran,R.J. and Wadzinski,B.E.
  TITLE     Brain protein phosphatase 2A: developmental regulation and distinct
            cellular and subcellular localization by B subunits
  JOURNAL   J. Comp. Neurol. 392 (4), 515-527 (1998)
   PUBMED   9514514
REFERENCE   9  (bases 1 to 4092)
  AUTHORS   Ruediger,R., Brewis,N., Ohst,K. and Walter,G.
  TITLE     Increasing the ratio of PP2A core enzyme to holoenzyme inhibits
            Tat-stimulated HIV-1 transcription and virus production
  JOURNAL   Virology 238 (2), 432-443 (1997)
   PUBMED   9400615
REFERENCE   10 (bases 1 to 4092)
  AUTHORS   Tung,H.Y., De Rocquigny,H., Zhao,L.J., Cayla,X., Roques,B.P. and
            Ozon,R.
  TITLE     Direct activation of protein phosphatase-2A0 by HIV-1 encoded
            protein complex NCp7:vpr
  JOURNAL   FEBS Lett. 401 (2-3), 197-201 (1997)
   PUBMED   9013886
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK093115.1 and AC116317.4.
            On Jun 19, 2006 this sequence version replaced gi:32967592.
            
            Summary: The product of this gene belongs to the phosphatase 2
            regulatory subunit B family. Protein phosphatase 2 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 gamma isoform of the regulatory subunit B55 subfamily.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) encodes the longest isoform
            (b).
            
            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 :: AK093115.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025085 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1620              AK093115.1         1-1620
            1621-4092           AC116317.4         82065-84536         c
FEATURES             Location/Qualifiers
     source          1..4092
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.1"
     gene            1..4092
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /note="protein phosphatase 2, regulatory subunit B, gamma"
                     /db_xref="GeneID:5522"
                     /db_xref="HGNC:9306"
                     /db_xref="MIM:605997"
     exon            1..94
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /inference="alignment:Splign:1.39.8"
     CDS             25..1368
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /EC_number="3.1.3.16"
                     /note="isoform b is encoded by transcript variant 2;
                     protein phosphatase 2 (formerly 2A), regulatory subunit B
                     (PR 52), gamma isoform; PP2A, subunit B, B-gamma isoform;
                     PP2A, subunit B, B55-gamma isoform; PP2A, subunit B,
                     PR55-gamma isoform; PP2A, subunit B, R2-gamma isoform;
                     protein phosphatase 2A1 B gamma subunit; phosphoprotein
                     phosphatase 2A BR gamma regulatory chain; gamma isoform of
                     regulatory subunit B55, protein phosphatase 2;
                     serine/threonine-protein phosphatase 2A 55 kDa regulatory
                     subunit B gamma isoform"
                     /codon_start=1
                     /product="protein phosphatase 2, regulatory subunit B,
                     gamma isoform b"
                     /protein_id="NP_870991.1"
                     /db_xref="GI:32967593"
                     /db_xref="CCDS:CCDS3388.1"
                     /db_xref="GeneID:5522"
                     /db_xref="HGNC:9306"
                     /db_xref="MIM:605997"
                     /translation="
MGLSFFSKHLPIQEGQPWALKTPADIISTVEFNHTGELLATGDKGGRVVIFQREPESKNAPHSQGEYDVYSTFQSHEPEFDYLKSLEIEEKINKIKWLPQQNAAHSLLSTNDKTIKLWKITERDKRPEGYNLKDEEGKLKDLSTVTSLQVPVLKPMDLMVEVSPRRIFANGHTYHINSISVNSDCETYMSADDLRINLWHLAITDRSFNIVDIKPANMEDLTEVITASEFHPHHCNLFVYSSSKGSLRLCDMRAAALCDKHSKLFEEPEDPSNRSFFSEIISSVSDVKFSHSGRYMLTRDYLTVKVWDLNMEARPIETYQVHDYLRSKLCSLYENDCIFDKFECAWNGSDSVIMTGAYNNFFRMFDRNTKRDVTLEASRESSKPRAVLKPRRVCVGGKRRRDDISVDSLDFTKKILHTAWHPAENIIAIAATNNLYIFQDKVNSDMH
"
     misc_feature    82..1122
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; Region:
                     WD40; cl02567"
                     /db_xref="CDD:207648"
     misc_feature    88..1338
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /note="Serine/threonine protein phosphatase 2A, regulatory
                     subunit [Signal transduction mechanisms]; Region: CDC55;
                     COG5170"
                     /db_xref="CDD:34770"
     misc_feature    order(91..93,145..147,157..159,175..180,247..252,349..351,
                     358..360,376..381,424..429,478..480,493..495,538..540,
                     589..591,601..603,619..624,682..687,739..741,754..756,
                     772..777,823..828,913..915,943..948,985..990,1087..1089,
                     1099..1101,1117..1122)
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /note="structural tetrad; other site"
                     /db_xref="CDD:29257"
     exon            95..192
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /inference="alignment:Splign:1.39.8"
     exon            193..358
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /inference="alignment:Splign:1.39.8"
     STS             226..321
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /standard_name="D4S815E"
                     /db_xref="UniSTS:473011"
     exon            359..471
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /inference="alignment:Splign:1.39.8"
     variation       462
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:35368770"
     exon            472..649
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /inference="alignment:Splign:1.39.8"
     variation       636
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35410672"
     exon            650..814
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /inference="alignment:Splign:1.39.8"
     exon            815..984
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /inference="alignment:Splign:1.39.8"
     exon            985..1076
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /inference="alignment:Splign:1.39.8"
     exon            1077..4092
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /inference="alignment:Splign:1.39.8"
     variation       1317
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11545013"
     variation       2134
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11554992"
     STS             2170..2334
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /standard_name="SHGC-8649"
                     /db_xref="UniSTS:32922"
     variation       2354
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11554991"
     STS             3285..3416
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /standard_name="RH94038"
                     /db_xref="UniSTS:89600"
     STS             3935..4074
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
                     /standard_name="SHGC-59174"
                     /db_xref="UniSTS:80504"
     polyA_signal    4062..4067
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
     polyA_site      4092
                     /gene="PPP2R2C"
                     /gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
ORIGIN      
acatgcaaaaagtggggcctggagatggggctgtcttttttctccaaacacttgcccatccaggaaggccagccctgggcattgaagactccagctgacatcatctctaccgttgagttcaaccacacgggagagctgctggccacaggtgacaagggcggccgggtcgtcatcttccagcgggaaccagagagtaaaaatgcgccccacagccagggcgaatacgacgtgtacagcactttccagagccacgagccggagtttgactatctcaagagcctggagatagaggagaagatcaacaagatcaagtggctcccacagcagaacgccgcccactcactcctgtccaccaacgataaaactatcaaattatggaagattaccgaacgagataaaaggcccgaaggatacaacctgaaggatgaagaggggaaacttaaggacctgtccacggtgacgtcactgcaggtgccagtgctgaagcccatggatctgatggtggaggtgagccctcggaggatctttgccaatggccacacctaccacatcaactccatctccgtcaacagtgactgcgagacctacatgtcggcggatgacctgcgcatcaacctctggcacctggccatcaccgacaggagcttcaacatcgtggacatcaagccggccaacatggaggaccttacggaggtgatcacagcatctgagttccatccgcaccactgcaacctcttcgtctacagcagcagcaagggctccctgcggctctgcgacatgcgggcagctgccctgtgtgacaagcattccaagctctttgaagagcctgaggaccccagtaaccgctcattcttctcggaaatcatctcctccgtgtccgacgtgaagttcagccacagcggccgctacatgctcacccgggactaccttacagtcaaggtctgggacctgaacatggaggcaagacccatagagacctaccaggtccatgactaccttcggagcaagctctgttccctgtacgagaacgactgcattttcgacaagtttgaatgtgcctggaacgggagcgacagcgtcatcatgaccggggcctacaacaacttcttccgcatgttcgatcggaacaccaagcgggacgtgaccctggaggcctcgagggaaagcagcaagccccgggctgtgctcaagccacggcgcgtgtgcgtggggggcaagcgccggcgtgatgacatcagtgtggacagcttggacttcaccaagaagatcctgcacacggcctggcacccggctgagaacatcattgccatcgccgccaccaacaacctgtacatcttccaggacaaggtaaactctgacatgcactaggtatgtgcagttcccggcccctgccacccagcctcatgcaagtcatccccgacatgaccttcacgaccgcaatgcaaggaggggaagaaagtcacagcactgatgaggacagctgcagaggtggcagtgtgtggacacaggaagtttgggccccctccctgccccagctttcctaggccagaattgtgtttggcagtaattgtctgtttaaaaaaataaaaaggaaaggaagcgttcaccgccacaaatcataaaatggacatgactgtggagtcttacagttcagggttctttcattcacgtcccttcctgtctcggtctgcggtctttaccacatcaataggactttttatgcgtccgggttaatttttcactccagtgcgtcctgttgcagggaccggagctgatgggagctgcttctcccccatgcctcactggtcccagatcagggctccagggacagatgatgagtctcaaacgagccagccaggggttcttttggttataaatggggcaattcgccctgtctcagagctgatgacctcaccgttgttttttggatggtgaattcatgctgagaatttgcagatgcaagctcctctcctaggtcttctgaatgtcttgaaacatcccaggtcccaggtctggtgcggtttcccgagaggagcggagtggggtttgtcttctgtgtgcctgtgtcctcatctgattcacctgccatttgctgagcctctgctgtgtaccaggcgtggtgctcagccctagaggcagttgacttaccctctgcagccctccctgccgcctcacccttcagcattcactgggcaccttcccggagcggacactgactcccatgcacgattttttggaatcttcctcctgactgtgaggtgggtgttcattcatttcctccataaacaccaacttctcgaagcgtgccaggctctgggctggatgctggggataagcgggaacccttaggatcccctctgtccacgagaagaagctgaggctctgagcggatgcacaggtcacccatggcaggtgccgtgcagtggtgtcaggaacccgtccgggtcttcacacaaggttctctccagtccatctcgtgggcggctcatgttagagcgacattcaaatggaaggtttggaaaggaatgcctctgtcttgtgaagtaggacatggcagacttggcgacgacaagggtccaggagaactgagacgcaggatggaagacagagaagaccccccggagctcctcgctctgcttggtggcttcaggagtgtggccctccccaggactccacttcatcctgggcttgcaccctccttgagccaatgcactgaactgcctttgaaaggaaattgcatgttctgaccattttaggatacctttactttaaggaccacacagtcccagaggacacatccctcgggaactctgcccctctgacaatgagggccacagagaaggtggtgtttccatggtagatgctcctgttctggtgataccaaacctgcccacccctctgagtcgtctttgctcatggacttgcagcagagccacgtagtttggcattttgattcagaaagtggggagcagagacccagccaaatccaaactttttttttggttttgttttgttttgttttttacaagatataacataacccaggaaacagacccagctgaggttattctcagtggattacagtatacttttgtgtgtgtaaaagcacaaagtgcatgtgtactcacttctggccatataacatttacacagggaaatggatcattgatttttttttaatcaacgtgaatgaagaatgtttgtttatatatcactataaaatccagttgacctggacagtattatatgtacatatctattctaattaaatttaacaatcaaaggattggattacttttttcccccttgtaaagaggttcgagaatgtggtcaattgtatagatagcgtgttaaagccaaaacccagctctgagggccttacccattacttggatatttgctacgatccatctccctttgtgagtcaaatgttaagagaagaaacttgtatttgcagctagaggttactgtcacatcatagatttaacatttaccatcttcaaagtacaaatcttacatgtccttcaaaaggaggtcttaatacagttcctagttccttacttctgttttaaactttgggtaccaaaccaaaaagaagaaaaaagaaaggaaaagatcttctttgaagaaaagtatgtctctggatccctggaaaataatgatgtccaaagcaaattgtgaagatcaaatgtgtgttaagaaaaggtgtcgaggggagggacaaaaccagaaacggtggaaggaccagtgtaatagtcacagacttgcatcctggctctgcttacatttcctggtactctcgaatgtacgggcgttcacatagtcattgtgaagttgttggggtttttttggttttgtttttaatttagctcttctctgaggacgaagctgttggtggtggtggtggtgggggtggtggtgtgggatacatggtggtcaagttgtcagccctgatcagtttggactctgtaactcataggtgcattctttttttctttggtgtctcacaaattacccaattgttgaataaaactataaatatgttaataccagctttttccaataaaataacaaatgttacatcaaaaacga
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:5522 -> Molecular function: GO:0008601 [protein phosphatase type 2A regulator activity] evidence: NAS
            GeneID:5522 -> Biological process: GO:0007165 [signal transduction] evidence: NAS
            GeneID:5522 -> Cellular component: GO:0000159 [protein phosphatase type 2A complex] evidence: NAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_870991 -> EC 3.1.3.16

by @meso_cacase at DBCLS
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