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2024-04-24 08:09:13, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001206996 4315 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens protein phosphatase 2, regulatory subunit B, gamma
(PPP2R2C), transcript variant 5, mRNA.
ACCESSION NM_001206996
VERSION NM_001206996.1 GI:332801072
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 4315)
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 4315)
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 4315)
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 4315)
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 4315)
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 4315)
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 4315)
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 4315)
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 4315)
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 4315)
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 BC032954.2, AC116317.4 and
BC045682.1.
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 (5) differs in the 5' UTR and
coding sequence compared to variant 2. The resulting isoform (d)
has a shorter and distinct N-terminus compared to isoform b.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
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 :: BC032954.2 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025082, ERS025084 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-1518 BC032954.2 1-1518
1519-3612 AC116317.4 82753-84846 c
3613-4315 BC045682.1 1459-2161
FEATURES Location/Qualifiers
source 1..4315
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4p16.1"
gene 1..4315
/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..173
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/inference="alignment:Splign:1.39.8"
exon 174..302
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/inference="alignment:Splign:1.39.8"
misc_feature 260..262
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/note="upstream in-frame stop codon"
CDS 284..1576
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/EC_number="3.1.3.16"
/note="isoform d is encoded by transcript variant 5;
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 d"
/protein_id="NP_001193925.1"
/db_xref="GI:332801073"
/db_xref="CCDS:CCDS56304.1"
/db_xref="GeneID:5522"
/db_xref="HGNC:9306"
/db_xref="MIM:605997"
/translation="
MGKRDTADIISTVEFNHTGELLATGDKGGRVVIFQREPESKNAPHSQGEYDVYSTFQSHEPEFDYLKSLEIEEKINKIKWLPQQNAAHSLLSTNDKTIKLWKITERDKRPEGYNLKDEEGKLKDLSTVTSLQVPVLKPMDLMVEVSPRRIFANGHTYHINSISVNSDCETYMSADDLRINLWHLAITDRSFNIVDIKPANMEDLTEVITASEFHPHHCNLFVYSSSKGSLRLCDMRAAALCDKHSKLFEEPEDPSNRSFFSEIISSVSDVKFSHSGRYMLTRDYLTVKVWDLNMEARPIETYQVHDYLRSKLCSLYENDCIFDKFECAWNGSDSVIMTGAYNNFFRMFDRNTKRDVTLEASRESSKPRAVLKPRRVCVGGKRRRDDISVDSLDFTKKILHTAWHPAENIIAIAATNNLYIFQDKVNSDMH
"
misc_feature 302..1546
/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 305..1330
/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 order(353..355,365..367,383..388,455..460,557..559,
566..568,584..589,632..637,686..688,701..703,746..748,
797..799,809..811,827..832,890..895,947..949,962..964,
980..985,1031..1036,1121..1123,1151..1156,1193..1198,
1295..1297,1307..1309,1325..1330)
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/note="structural tetrad; other site"
/db_xref="CDD:29257"
exon 303..400
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/inference="alignment:Splign:1.39.8"
exon 401..566
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/inference="alignment:Splign:1.39.8"
STS 434..529
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/standard_name="D4S815E"
/db_xref="UniSTS:473011"
exon 567..679
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/inference="alignment:Splign:1.39.8"
variation 670
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/replace="a"
/replace="g"
/db_xref="dbSNP:35368770"
exon 680..857
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/inference="alignment:Splign:1.39.8"
variation 844
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/replace="c"
/replace="t"
/db_xref="dbSNP:35410672"
exon 858..1022
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/inference="alignment:Splign:1.39.8"
exon 1023..1192
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/inference="alignment:Splign:1.39.8"
exon 1193..1284
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/inference="alignment:Splign:1.39.8"
exon 1285..4300
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/inference="alignment:Splign:1.39.8"
variation 1525
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/replace="a"
/replace="c"
/db_xref="dbSNP:11545013"
polyA_signal 1791..1796
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
polyA_site 1832
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
variation 2342
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/replace="a"
/replace="g"
/db_xref="dbSNP:11554992"
STS 2378..2542
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/standard_name="SHGC-8649"
/db_xref="UniSTS:32922"
variation 2562
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/replace="a"
/replace="c"
/db_xref="dbSNP:11554991"
polyA_signal 3473..3478
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
polyA_site 3492
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
STS 3493..3624
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/standard_name="RH94038"
/db_xref="UniSTS:89600"
STS 4143..4282
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
/standard_name="SHGC-59174"
/db_xref="UniSTS:80504"
polyA_signal 4270..4275
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
polyA_site 4300
/gene="PPP2R2C"
/gene_synonym="B55-GAMMA; IMYPNO; IMYPNO1; PR52; PR55G"
ORIGIN
atgtgttttgggggaaacagagagaaaggtgtggcctctccacttctgtggacaccccaaataggaagaagggtgcacacaaagcaccgcttcctccacgaagccctcctcaggcacatcgaggagaaccagctgcccaagctcttggctgctgcccttctgaggcctgcctgatttgggccacatagatctggttttggccattgactggcaacatggcagtagccaactgcagagccaccagggagcagcctcattctgattgagtataacgaagacgctgatgggaaagagagacacggctgacatcatctctaccgttgagttcaaccacacgggagagctgctggccacaggtgacaagggcggccgggtcgtcatcttccagcgggaaccagagagtaaaaatgcgccccacagccagggcgaatacgacgtgtacagcactttccagagccacgagccggagtttgactatctcaagagcctggagatagaggagaagatcaacaagatcaagtggctcccacagcagaacgccgcccactcactcctgtccaccaacgataaaactatcaaattatggaagattaccgaacgagataaaaggcccgaaggatacaacctgaaggatgaagaggggaaacttaaggacctgtccacggtgacgtcactgcaggtgccagtgctgaagcccatggatctgatggtggaggtgagccctcggaggatctttgccaatggccacacctaccacatcaactccatctccgtcaacagtgactgcgagacctacatgtcggcggatgacctgcgcatcaacctctggcacctggccatcaccgacaggagcttcaacatcgtggacatcaagccggccaacatggaggaccttacggaggtgatcacagcatctgagttccatccgcaccactgcaacctcttcgtctacagcagcagcaagggctccctgcggctctgcgacatgcgggcagctgccctgtgtgacaagcattccaagctctttgaagagcctgaggaccccagtaaccgctcattcttctcggaaatcatctcctccgtgtccgacgtgaagttcagccacagcggccgctacatgctcacccgggactaccttacagtcaaggtctgggacctgaacatggaggcaagacccatagagacctaccaggtccatgactaccttcggagcaagctctgttccctgtacgagaacgactgcattttcgacaagtttgaatgtgcctggaacgggagcgacagcgtcatcatgaccggggcctacaacaacttcttccgcatgttcgatcggaacaccaagcgggacgtgaccctggaggcctcgagggaaagcagcaagccccgggctgtgctcaagccacggcgcgtgtgcgtggggggcaagcgccggcgtgatgacatcagtgtggacagcttggacttcaccaagaagatcctgcacacggcctggcacccggctgagaacatcattgccatcgccgccaccaacaacctgtacatcttccaggacaaggtaaactctgacatgcactaggtatgtgcagttcccggcccctgccacccagcctcatgcaagtcatccccgacatgaccttcacgaccgcaatgcaaggaggggaagaaagtcacagcactgatgaggacagctgcagaggtggcagtgtgtggacacaggaagtttgggccccctccctgccccagctttcctaggccagaattgtgtttggcagtaattgtctgtttaaaaaaataaaaaggaaaggaagcgttcaccgccacaaatcataaaatggacatgactgtggagtcttacagttcagggttctttcattcacgtcccttcctgtctcggtctgcggtctttaccacatcaataggactttttatgcgtccgggttaatttttcactccagtgcgtcctgttgcagggaccggagctgatgggagctgcttctcccccatgcctcactggtcccagatcagggctccagggacagatgatgagtctcaaacgagccagccaggggttcttttggttataaatggggcaattcgccctgtctcagagctgatgacctcaccgttgttttttggatggtgaattcatgctgagaatttgcagatgcaagctcctctcctaggtcttctgaatgtcttgaaacatcccaggtcccaggtctggtgcggtttcccgagaggagcggagtggggtttgtcttctgtgtgcctgtgtcctcatctgattcacctgccatttgctgagcctctgctgtgtaccaggcgtggtgctcagccctagaggcagttgacttaccctctgcagccctccctgccgcctcacccttcagcattcactgggcaccttcccggagcggacactgactcccatgcacgattttttggaatcttcctcctgactgtgaggtgggtgttcattcatttcctccataaacaccaacttctcgaagcgtgccaggctctgggctggatgctggggataagcgggaacccttaggatcccctctgtccacgagaagaagctgaggctctgagcggatgcacaggtcacccatggcaggtgccgtgcagtggtgtcaggaacccgtccgggtcttcacacaaggttctctccagtccatctcgtgggcggctcatgttagagcgacattcaaatggaaggtttggaaaggaatgcctctgtcttgtgaagtaggacatggcagacttggcgacgacaagggtccaggagaactgagacgcaggatggaagacagagaagaccccccggagctcctcgctctgcttggtggcttcaggagtgtggccctccccaggactccacttcatcctgggcttgcaccctccttgagccaatgcactgaactgcctttgaaaggaaattgcatgttctgaccattttaggatacctttactttaaggaccacacagtcccagaggacacatccctcgggaactctgcccctctgacaatgagggccacagagaaggtggtgtttccatggtagatgctcctgttctggtgataccaaacctgcccacccctctgagtcgtctttgctcatggacttgcagcagagccacgtagtttggcattttgattcagaaagtggggagcagagacccagccaaatccaaactttttttttggttttgttttgttttgttttttacaagatataacataacccaggaaacagacccagctgaggttattctcagtggattacagtatacttttgtgtgtgtaaaagcacaaagtgcatgtgtactcacttctggccatataacatttacacagggaaatggatcattgatttttttttaatcaacgtgaatgaagaatgtttgtttatatatcactataaaatccagttgacctggacagtattatatgtacatatctattctaattaaatttaacaatcaaaggattggattacttttttcccccttgtaaagaggttcgagaatgtggtcaattgtatagatagcgtgttaaagccaaaacccagctctgagggccttacccattacttggatatttgctacgatccatctccctttgtgagtcaaatgttaagagaagaaacttgtatttgcagctagaggttactgtcacatcatagatttaacatttaccatcttcaaagtacaaatcttacatgtccttcaaaaggaggtcttaatacagttcctagttccttacttctgttttaaactttgggtaccaaaccaaaaagaagaaaaaagaaaggaaaagatcttctttgaagaaaagtatgtctctggatccctggaaaataatgatgtccaaagcaaattgtgaagatcaaatgtgtgttaagaaaaggtgtcgaggggagggacaaaaccagaaacggtggaaggaccagtgtaatagtcacagacttgcatcctggctctgcttacatttcctggtactctcgaatgtacgggcgttcacatagtcattgtgaagttgttggggtttttttggttttgtttttaatttagctcttctctgaggacgaagctgttggtggtggtggtggtgggggtggtggtgtgggatacatggtggtcaagttgtcagccctgatcagtttggactctgtaactcataggtgcattctttttttctttggtgtctcacaaattacccaattgttgaataaaactataaatatgttaataccagctttttccaataaaataacaaatgttacatcaaaaacgaaaaaaaaaaaaaaaa
//
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_001193925 -> EC 3.1.3.16
by
@meso_cacase at
DBCLS
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