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    PPP2R2B protein phosphatase 2 regulatory subunit Bbeta [ Homo sapiens (human) ]

    Gene ID: 5521, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PPP2R2Bprovided by HGNC
    Official Full Name
    protein phosphatase 2 regulatory subunit Bbetaprovided by HGNC
    Primary source
    HGNC:HGNC:9305
    See related
    Ensembl:ENSG00000156475 MIM:604325; AllianceGenome:HGNC:9305
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PR52B; SCA12; B55BETA; PR55BETA; PP2ABBETA; PP2APR55B; PR2ABBETA; PR55-BETA; PP2AB55BETA; PR2AB55BETA; PP2APR55BETA; PR2APR55BETA
    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 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 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in brain (RPKM 31.7), testis (RPKM 4.4) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPP2R2B in Genome Data Viewer
    Location:
    5q32
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (146580742..147081520, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (147116637..147617597, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (145960305..146461083, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:145826559-145827266 Neighboring gene MPRA-validated peak5524 silencer Neighboring gene transcription elongation regulator 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:145920194-145920694 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:145939738-145940393 Neighboring gene uncharacterized CTB-99A3.1 Neighboring gene G protein-coupled receptor 151 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:145989281-145989921 Neighboring gene RNA, 5S ribosomal pseudogene 196 Neighboring gene RNA, 7SL, cytoplasmic 791, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:146111026-146112225 Neighboring gene uncharacterized LOC107986461 Neighboring gene keratin 8 pseudogene 48 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:146168291-146168992 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:146176260-146177054 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:146196483-146197009 Neighboring gene MPRA-validated peak5525 silencer Neighboring gene protein phosphatase 2 regulatory subunit Bbeta repeat instability region Neighboring gene uncharacterized LOC105378214 Neighboring gene PPP2R2B intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23362 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:146473503-146474702 Neighboring gene STK32A antisense RNA 1 Neighboring gene serine/threonine kinase 32A Neighboring gene dihydropyrimidinase like 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Spinocerebellar ataxia type 12. O'Hearn E, et al. Handb Clin Neurol, 2012. PMID 21827912
    2. Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B. Srivastava AK, et al. Brain, 2017 Jan. PMID 27864267
    3. Oxidative stress promotes autophagic cell death in human neuroblastoma cells with ectopic transfer of mitochondrial PPP2R2B (Bbeta2). Cheng WT, et al. BMC Cell Biol, 2009 Dec 18. PMID 20017961, Free PMC Article
    4. Regulation of β-Catenin Phosphorylation by PR55β in Adenoid Cystic Carcinoma. Ishibashi K, et al. Cancer Genomics Proteomics, 2018 Jan-Feb. PMID 29275362, Free PMC Article
    5. Evidence of a common founder for SCA12 in the Indian population. Bahl S, et al. Ann Hum Genet, 2005 Sep. PMID 16138911

    See all (129) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12.
      Title: Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12.
    2. Comprehensive analysis of mitochondria-related genes indicates that PPP2R2B is a novel biomarker and promotes the progression of bladder cancer via Wnt signaling pathway.
      Title: Comprehensive analysis of mitochondria-related genes indicates that PPP2R2B is a novel biomarker and promotes the progression of bladder cancer via Wnt signaling pathway.
    3. Systematic screening identifies a 2-gene signature as a high-potential prognostic marker of undifferentiated pleomorphic sarcoma/myxofibrosarcoma.
      Title: Systematic screening identifies a 2-gene signature as a high-potential prognostic marker of undifferentiated pleomorphic sarcoma/myxofibrosarcoma.
    4. EZH2-mediated PP2A inactivation confers resistance to HER2-targeted breast cancer therapy.
      Title: EZH2-mediated PP2A inactivation confers resistance to HER2-targeted breast cancer therapy.
    5. Transcriptional regulation of PPP2R2B (B55ss), a molecule necessary for the termination of the immune response, in patients with autoimmune diseases. PPP2R2B hypermethylation causes acquired apoptosis deficiency in systemic autoimmune diseases.
      Title: PPP2R2B hypermethylation causes acquired apoptosis deficiency in systemic autoimmune diseases.
    6. CDK1-counteracting phosphatases PP1 and PP2A-B55, together with Aurora and Polo kinases, contribute to the temporal regulation and order of events in the different stages of mitotic exit from anaphase to cytokinesis. (Review)
      Title: Getting out of mitosis: spatial and temporal control of mitotic exit and cytokinesis by PP1 and PP2A.
    7. Dephosphorylation and total levels of beta-catenin were dependent on PR55beta in an adenoid cystic carcinoma tumor cell line.
      Title: Regulation of β-Catenin Phosphorylation by PR55β in Adenoid Cystic Carcinoma.
    8. New pathogenic threshold of PPP2R2B CAG-43 to be pathogenic for SCA12 diagnosis.
      Title: Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B.
    9. CAG triplet repeat expansion has been found in untranslated region of SCA12 gene in Indian spinocerebellar ataxia 12 patients.
      Title: Exploration of CAG triplet repeat in nontranslated region of SCA12 gene.
    10. Thus, Fcp1 coordinates Cdk1 and Gwl inactivation to derepress PP2A-B55, generating a dephosphorylation switch that drives mitosis progression.
      Title: Fcp1 phosphatase controls Greatwall kinase to promote PP2A-B55 activation and mitotic progression.
    Submit: New GeneRIF Correction See all GeneRIFs (54)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spinocerebellar ataxia type 12
    MedGen: C1858501 OMIM: 604326 GeneReviews: Hereditary Ataxia Overview
    		Compare labs

    EBI GWAS Catalog

    Description
    Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.
    EBI GWAS Catalog
    Genome-wide association study of alcohol dependence.
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates the total levels of PP2A protein and downregulates the inactive form of phosphorylated PP2A, which leads to inhibit hTERT activity directly or indirectly in CD4+ T cells PubMed
    tat Protein phosphatase-2A (PP2A) and protein phosphatase-1 (PP1) regulate HIV-1 Tat-activated transcription through dephosphorylation of CDK9 PubMed
    tat An increase in the amount of PP2A core enzyme with a concomitant decrease in the amount of PP2A holoenzyme inhibits HIV-1 Tat-stimulated transcription from the HIV-1 LTR promoter, indicating a role for PP2A in the modulation of HIV-1 gene expression PubMed
    Vpr vpr Amino-acid peptide sequence (residues 77-92) of HIV-1 Vpr binds to PP2A1. The sequence from HIV-1 89.6 strain is a cell penetrating and death domain PubMed
    vpr HIV-1 Vpr cell death causing peptide (amino acid residues 71-96) can activate the expression of PP2A when applied extracellularly to CD4+ T cells as well as cause the activation of PP2A from brain, liver, and adipose tissues PubMed
    vpr HIV-1 Vpr was found to upregulate PP2A in fission yeast PubMed
    vpr HIV-1 Vpr forms a complex with HIV-1 nucleocapsid that directly activates PP2A PubMed
    nucleocapsid gag HIV-1 Vpr forms a complex with HIV-1 nucleocapsid that directly activates PP2A PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ95686, MGC24888

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of protein phosphatase type 2A complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform
    Names
    protein phosphatase 2, regulatory subunit B, beta
    NP_001258828.1
    NP_001258829.1
    NP_001258877.1
    NP_001415206.1
    NP_001415208.1
    NP_858060.2
    NP_858061.3
    NP_858062.1
    NP_858063.1
    NP_858064.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011570.3 RefSeqGene

      Range
      207763..505778
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001271899.1 → NP_001258828.1  serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform g

      See identical proteins and their annotated locations for NP_001258828.1

      Status: REVIEWED

      Source sequence(s)
      AI621232, AK295347, BC031790, BX464346
      Consensus CDS
      CCDS64282.1
      UniProtKB/Swiss-Prot
      Q00005
      Related
      ENSP00000421396.1, ENST00000504198.5
      Conserved Domains (2) summary
      COG5170
      Location:14 → 444
      CDC55; Serine/threonine protein phosphatase 2A, regulatory subunit [Signal transduction mechanisms]
      sd00039
      Location:33 → 81
      7WD40; WD40 repeat [structural motif]

    2. NM_001271900.2 → NP_001258829.1  serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform f

      See identical proteins and their annotated locations for NP_001258829.1

      Status: REVIEWED

      Source sequence(s)
      AC008728, AC009186, AC010251, AC011386
      Consensus CDS
      CCDS64281.1
      UniProtKB/Swiss-Prot
      Q00005
      Related
      ENSP00000377935.4, ENST00000394413.7
      Conserved Domains (2) summary
      COG5170
      Location:80 → 496
      CDC55; Serine/threonine protein phosphatase 2A, regulatory subunit [Signal transduction mechanisms]
      sd00039
      Location:85 → 133
      7WD40; WD40 repeat [structural motif]

    3. NM_001271948.2 → NP_001258877.1  serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform d

      See identical proteins and their annotated locations for NP_001258877.1

      Status: REVIEWED

      Source sequence(s)
      AC008728, AI621232, AK314810, BC031790, BP195204
      Consensus CDS
      CCDS43380.1
      UniProtKB/Swiss-Prot
      Q00005
      Related
      ENSP00000398779.2, ENST00000453001.5
      Conserved Domains (2) summary
      COG5170
      Location:13 → 427
      CDC55; Serine/threonine protein phosphatase 2A, regulatory subunit [Signal transduction mechanisms]
      sd00039
      Location:16 → 64
      7WD40; WD40 repeat [structural motif]

    4. NM_001428277.1 → NP_001415206.1  serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform e

      Status: REVIEWED

      Source sequence(s)
      AC008728, AC009186, AC011386
      UniProtKB/Swiss-Prot
      A6NEJ2, A8K102, B3KPD0, B7Z2F2, B7Z304, D3DQF7, D3DQF8, G3V149, Q00005
      Related
      ENSP00000377931.4, ENST00000394409.7

    5. NM_001428279.1 → NP_001415208.1  serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform e

      Status: REVIEWED

      Source sequence(s)
      AC008728, AC009186, AC011386
      UniProtKB/Swiss-Prot
      A6NEJ2, A8K102, B3KPD0, B7Z2F2, B7Z304, D3DQF7, D3DQF8, G3V149, Q00005

    6. NM_181674.3 → NP_858060.2  serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform a

      See identical proteins and their annotated locations for NP_858060.2

      Status: REVIEWED

      Source sequence(s)
      AC008728, AI621232, BC031790, DA522334
      Consensus CDS
      CCDS4284.2
      UniProtKB/Swiss-Prot
      Q00005
      Related
      ENSP00000377936.1, ENST00000394414.5
      Conserved Domains (2) summary
      COG5170
      Location:88 → 504
      CDC55; Serine/threonine protein phosphatase 2A, regulatory subunit [Signal transduction mechanisms]
      sd00039
      Location:93 → 141
      7WD40; WD40 repeat [structural motif]

    7. NM_181675.4 → NP_858061.3  serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform e

      Status: REVIEWED

      Source sequence(s)
      AC008728, AC009186, AC011386
      Consensus CDS
      CCDS93800.1
      UniProtKB/Swiss-Prot
      A6NEJ2, A8K102, B3KPD0, B7Z2F2, B7Z304, D3DQF7, D3DQF8, G3V149, Q00005
      Related
      ENSP00000377933.3, ENST00000394411.9
      Conserved Domains (2) summary
      COG5170
      Location:22 → 438
      CDC55; Serine/threonine protein phosphatase 2A, regulatory subunit [Signal transduction mechanisms]
      sd00039
      Location:27 → 75
      7WD40; WD40 repeat [structural motif]

    8. NM_181676.3 → NP_858062.1  serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform b

      See identical proteins and their annotated locations for NP_858062.1

      Status: REVIEWED

      Source sequence(s)
      AC008728, AI621232, BC031790, DA522334
      Consensus CDS
      CCDS4283.1
      UniProtKB/Swiss-Prot
      Q00005
      Related
      ENSP00000336591.6, ENST00000336640.10
      Conserved Domains (2) summary
      COG5170
      Location:25 → 441
      CDC55; Serine/threonine protein phosphatase 2A, regulatory subunit [Signal transduction mechanisms]
      sd00039
      Location:30 → 78
      7WD40; WD40 repeat [structural motif]

    9. NM_181677.2 → NP_858063.1  serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform c

      See identical proteins and their annotated locations for NP_858063.1

      Status: REVIEWED

      Source sequence(s)
      AI621232, BC031790, DA155307, DA365141
      UniProtKB/Swiss-Prot
      Q00005
      Conserved Domains (2) summary
      COG5170
      Location:2 → 418
      CDC55; Serine/threonine protein phosphatase 2A, regulatory subunit [Signal transduction mechanisms]
      sd00039
      Location:7 → 55
      7WD40; WD40 repeat [structural motif]

    10. NM_181678.2 → NP_858064.1  serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform d

      See identical proteins and their annotated locations for NP_858064.1

      Status: REVIEWED

      Source sequence(s)
      AI621232, BC031790, BI669304, DA365141
      Consensus CDS
      CCDS43380.1
      UniProtKB/Swiss-Prot
      Q00005
      Related
      ENSP00000431320.1, ENST00000508545.6
      Conserved Domains (2) summary
      COG5170
      Location:13 → 427
      CDC55; Serine/threonine protein phosphatase 2A, regulatory subunit [Signal transduction mechanisms]
      sd00039
      Location:16 → 64
      7WD40; WD40 repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      146580742..147081520 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      147116637..147617597 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q00005.1 GenPept UniProtKB/Swiss-Prot:Q00005

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