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

Gene ID: 5521, updated on 10-Oct-2020

Summary

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
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

Genomic context

See PPP2R2B in Genome Data Viewer
Location:
5q32
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (146580742..147081520, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (145969067..146461083, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene transcription elongation regulator 1 Neighboring gene uncharacterized CTB-99A3.1 Neighboring gene G protein-coupled receptor 151 Neighboring gene RNA, 5S ribosomal pseudogene 196 Neighboring gene RNA, 7SL, cytoplasmic 791, pseudogene Neighboring gene uncharacterized LOC107986461 Neighboring gene keratin 8 pseudogene 48 Neighboring gene protein phosphatase 2 regulatory subunit Bbeta repeat instability region Neighboring gene uncharacterized LOC105378214 Neighboring gene PPP2R2B intronic transcript 1 Neighboring gene STK32A antisense RNA 1 Neighboring gene serine/threonine kinase 32A Neighboring gene dihydropyrimidinase like 3

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.
GeneReviews: Not available
Genome-wide association study of alcohol dependence.
GeneReviews: Not available
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
GeneReviews: Not available
Spinocerebellar ataxia type 12 Compare labs

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ95686, MGC24888

Gene Ontology Provided by GOA

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

General protein information

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_858060.2
NP_858061.3
NP_858062.1
NP_858063.1
NP_858064.1

NCBI Reference Sequences (RefSeq)

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_011570.2 RefSeqGene

    Range
    5001..496967
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271899.1NP_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:14444
    CDC55; Serine/threonine protein phosphatase 2A, regulatory subunit [Signal transduction mechanisms]
    sd00039
    Location:3381
    7WD40; WD40 repeat [structural motif]
  2. NM_001271900.2NP_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:80496
    CDC55; Serine/threonine protein phosphatase 2A, regulatory subunit [Signal transduction mechanisms]
    sd00039
    Location:85133
    7WD40; WD40 repeat [structural motif]
  3. NM_001271948.2NP_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:13427
    CDC55; Serine/threonine protein phosphatase 2A, regulatory subunit [Signal transduction mechanisms]
    sd00039
    Location:1664
    7WD40; WD40 repeat [structural motif]
  4. NM_181674.3NP_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:88504
    CDC55; Serine/threonine protein phosphatase 2A, regulatory subunit [Signal transduction mechanisms]
    sd00039
    Location:93141
    7WD40; WD40 repeat [structural motif]
  5. NM_181675.4NP_858061.3  serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform e

    Status: REVIEWED

    Source sequence(s)
    AC008728, AC009186, AC011386
    Related
    ENSP00000377933.3, ENST00000394411.8
    Conserved Domains (2) summary
    COG5170
    Location:22438
    CDC55; Serine/threonine protein phosphatase 2A, regulatory subunit [Signal transduction mechanisms]
    sd00039
    Location:2775
    7WD40; WD40 repeat [structural motif]
  6. NM_181676.3NP_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:25441
    CDC55; Serine/threonine protein phosphatase 2A, regulatory subunit [Signal transduction mechanisms]
    sd00039
    Location:3078
    7WD40; WD40 repeat [structural motif]
  7. NM_181677.2NP_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:2418
    CDC55; Serine/threonine protein phosphatase 2A, regulatory subunit [Signal transduction mechanisms]
    sd00039
    Location:755
    7WD40; WD40 repeat [structural motif]
  8. NM_181678.2NP_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:13427
    CDC55; Serine/threonine protein phosphatase 2A, regulatory subunit [Signal transduction mechanisms]
    sd00039
    Location:1664
    7WD40; WD40 repeat [structural motif]

RNA

  1. NR_073526.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC008728, AC009186, AC011386
  2. NR_073527.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC008728, AI621232, AK056192, BC031790, BX647887

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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