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Protein phosphatase 2, regulatory subunit B, beta

SCA12, PPP2R2B
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 beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 66-78 copies in cases of SCA12. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: SCA2, CACNA1A, Jos, SCA7, SCA10
Papers on SCA12
[Recent advances in clinical and genetic research of spinocerebellar ataxia type 36].
Review
New
Wang et al., Changsha, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, Jan 2016
Until now, 5 subtypes including SCA8, SCA10, SCA12, SCA31 and SCA36 have been mapped.
Hormone Replacement Therapy Associated White Blood Cell DNA Methylation and Gene Expression are Associated With Within-Pair Differences of Body Adiposity and Bone Mass.
New
Ollikainen et al., Helsinki, Finland. In Twin Res Hum Genet, Dec 2015
Of the genes with DMRs, five (ACBA1, CCL5, FASLG, PPP2R2B, and UHRF1) were also differentially expressed.
Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12.
New
Margolis et al., Baltimore, United States. In Mov Disord, Nov 2015
OBJECTIVE: SCA12 is a progressive autosomal-dominant disorder, caused by a CAG/CTG repeat expansion in PPP2R2B on chromosome 5q32, and characterized by tremor, gait ataxia, hyperreflexia, dysmetria, abnormal eye movements, anxiety, depression, and sometimes cognitive impairment.
Wnt pathway antagonists, SFRP1, SFRP2, SOX17, and PPP2R2B, are methylated in gliomas and SFRP1 methylation predicts shorter survival.
New
Baer-Dubowska et al., Poznań, Poland. In J Appl Genet, Oct 2015
The methylation of SFRP1, SFRP2, PPP2R2B, DKK1, SOX17, and DACH1 was analyzed in 64 glioma samples using methylation-specific polymerase chain reaction (MSP).
Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor.
New
Louis et al., New York City, United States. In Parkinsonism Relat Disord, Aug 2015
These genes were spinocerebellar ataxia (SCA)-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and dentatorubral-pallidolysian atrophy (DRPLA) (ATN1).
Inhibition of DNA methyltransferase as a novel therapeutic strategy to overcome acquired resistance to dual PI3K/mTOR inhibitors.
New
Zhu et al., Guangzhou, China. In Oncotarget, Apr 2015
DNA methyltransferases were upregulated and induced PTEN and PPP2R2B gene hypermethylation, which downregulated their expression in BEZ235-resistant cancer cells.
Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study.
Pulkes et al., Bangkok, Thailand. In Bmc Neurol, 2014
Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 genes were comprehensively performed.
Transcriptome profiling of bovine inner cell mass and trophectoderm derived from in vivo generated blastocysts.
Sirard et al., Eşfahān, Iran. In Bmc Dev Biol, 2014
Moreover, a great majority of genes that were found to be misregulated following in vitro culture of bovine embryos were known genes involved in epigenetic regulation of pluripotency and cell differentiation including DNMT1, GADD45, CARM1, ELF5 HDAC8, CCNB1, KDM6A, PRDM9, CDX2, ARID3A, IL6, GADD45A, FGFR2, PPP2R2B, and SMARCA2.
Association analyses identify multiple new lung cancer susceptibility loci and their interactions with smoking in the Chinese population.
Impact
Shen et al., Nanjing, China. In Nat Genet, 2012
We found genome-wide significant (P < 5.0 × 10(-8)) evidence for three additional lung cancer susceptibility loci at 10p14 (rs1663689, close to GATA3, P = 2.84 × 10(-10)), 5q32 (rs2895680 in PPP2R2B-STK32A-DPYSL3, P = 6.60 × 10(-9)) and 20q13.2
Spinocerebellar ataxia type 12.
Review
GeneRIF
Margolis et al., Baltimore, United States. In Handb Clin Neurol, 2011
This study suggested that PPP2R2B CAG expansion mutation might lead increase induction of Spinocerebellar ataxia type 12.
Induction of PP2A Bβ, a regulator of IL-2 deprivation-induced T-cell apoptosis, is deficient in systemic lupus erythematosus.
GeneRIF
Tsokos et al., Boston, United States. In Proc Natl Acad Sci U S A, 2011
defective production of PP2A Bbeta upon IL-2 deprivation results in apoptosis resistance and longer survival of autoreactive T cells, in a subset of SLE patients
Mitochondrial dysfunction and oxidative stress contribute to the pathogenesis of spinocerebellar ataxia type 12 (SCA12).
GeneRIF
Su et al., Taipei, Taiwan. In J Biol Chem, 2011
oxidative stress induced by mitochondrial dysfunction causes elevated expression of ppp2r2b and plays a causal role in SCA12; and reduction of ROS is a potential therapeutic intervention for this neuropathy
Association between CAG repeat length in the PPP2R2B gene and Alzheimer disease in the Japanese population.
GeneRIF
Takeda et al., Ōsaka, Japan. In Neurosci Lett, 2011
CAG repeat lengths in the PPP2R2B gene may be potential genetic markers for Alzheimer disease susceptibility in the Japanese population.
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.
Review
Wszolek et al., Johnson City, United States. In Orphanet J Rare Dis, 2010
To date, 21 subtypes have been identified: SCA1-SCA4, SCA8, SCA10, SCA12-SCA14, SCA15/16, SCA17-SCA23, SCA25, SCA27, SCA28 and dentatorubral pallidoluysian atrophy (DRPLA).
B55β-associated PP2A complex controls PDK1-directed myc signaling and modulates rapamycin sensitivity in colorectal cancer.
Impact
GeneRIF
Yu et al., Singapore, Singapore. In Cancer Cell, 2010
PPP2R2B, encoding the B55beta regulatory subunit of the PP2A complex, is epigenetically inactivated by DNA hypermethylation in colorectal cancer.
Spinocerebellar Ataxia Type 15
Review
Storey, Seattle, United States. In Unknown Journal, 2006
DIAGNOSIS/TESTING: The diagnosis of SCA15 should be considered in individuals in whom the diagnoses of SCA5, SCA6, SCA8, SCA11, SCA12, SCA14, and SCA27 have been excluded by molecular genetic testing (if available) and who fulfill the clinical diagnostic criteria for SCA15.
RNA-mediated neuromuscular disorders.
Review
Impact
Cooper et al., Minneapolis, United States. In Annu Rev Neurosci, 2005
This review discusses RNA pathogenesis in DM1 and DM2 and evidence that similar mechanisms may play a role in a growing number of dominant noncoding expansion disorders, including fragile X tremor ataxia syndrome (FXTAS), spinocerebellar ataxia type 8 (SCA8), SCA10, SCA12, and Huntington's disease-like 2 (HDL2).
Spinocerebellar Ataxia Type 12
Review
Sinha et al., Seattle, United States. In Unknown Journal, 2004
DIAGNOSIS/TESTING: PPP2R2B is the only gene in which mutation is known to cause SCA12.
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