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Aliases for PPP2R2B Gene

Aliases for PPP2R2B Gene

  • Protein Phosphatase 2 Regulatory Subunit B, Beta 2 3 5
  • Protein Phosphatase 2 (Formerly 2A), Regulatory Subunit B (PR 52), Beta Isoform 2 3
  • Protein Phosphatase 2 (Formerly 2A), Regulatory Subunit B, Beta Isoform 2 3
  • Protein Phosphatase 2, Regulatory Subunit B, Beta 2 3
  • PP2A Subunit B Isoform PR55-Beta 3 4
  • PP2A Subunit B Isoform B55-Beta 3 4
  • PP2A Subunit B Isoform R2-Beta 3 4
  • PP2A Subunit B Isoform Beta 2 4
  • Serine/Threonine Protein Phosphatase 2A, 55 KDa Regulatory Subunit B, Beta Isoform 3
  • Serine/Threonine Protein Phosphatase 2A, Neuronal Isoform 3
  • PP2A, Subunit B, B-Beta Isoform 3
  • Spinocerebellar Ataxia 12 2
  • PP2APR55BETA 3
  • PR2APR55BETA 3
  • PP2AB55BETA 3
  • PR2AB55BETA 3
  • PP2ABBETA 3
  • PP2APR55B 3
  • PR2ABBETA 3
  • PR55-BETA 3
  • PR55BETA 3
  • B55BETA 3
  • PR52B 3
  • SCA12 3

External Ids for PPP2R2B Gene

Previous HGNC Symbols for PPP2R2B Gene

  • SCA12

Previous GeneCards Identifiers for PPP2R2B Gene

  • GC05M145936
  • GC05M145997
  • GC05M145949
  • GC05M141115
  • GC05M145969

Summaries for PPP2R2B Gene

Entrez Gene Summary for PPP2R2B Gene

  • 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]

GeneCards Summary for PPP2R2B Gene

PPP2R2B (Protein Phosphatase 2 Regulatory Subunit B, Beta) is a Protein Coding gene. Diseases associated with PPP2R2B include Spinocerebellar Ataxia 12 and Spinocerebellar Ataxia Type12. Among its related pathways are CTLA4 Signaling and p70S6K Signaling. GO annotations related to this gene include protein phosphatase type 2A regulator activity. An important paralog of this gene is PPP2R2C.

UniProtKB/Swiss-Prot for PPP2R2B Gene

  • The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. Within the PP2A holoenzyme complex, isoform 2 is required to promote proapoptotic activity (By similarity). Isoform 2 regulates neuronal survival through the mitochondrial fission and fusion balance (By similarity).

Tocris Summary for PPP2R2B Gene

  • Protein Ser/Thr phosphatases are a group of enzymes that catalyze the removal of phosphate groups from serine and/or threonine residues by hydrolysis of phosphoric acid monoesters. They oppose the action of kinases and phosphorylases and are involved in signal transduction.

Gene Wiki entry for PPP2R2B Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP2R2B Gene

Genomics for PPP2R2B Gene

Regulatory Elements for PPP2R2B Gene

Enhancers for PPP2R2B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PPP2R2B on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the PPP2R2B gene promoter:

Genomic Location for PPP2R2B Gene

Chromosome:
5
Start:
146,581,146 bp from pter
End:
147,084,784 bp from pter
Size:
503,639 bases
Orientation:
Minus strand

Genomic View for PPP2R2B Gene

Genes around PPP2R2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP2R2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP2R2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP2R2B Gene

Proteins for PPP2R2B Gene

  • Protein details for PPP2R2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00005-2ABB_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform
    Protein Accession:
    Q00005
    Secondary Accessions:
    • A6NEJ2
    • A8K102
    • B3KPD0
    • B7Z2F2
    • B7Z304
    • D3DQF7
    • D3DQF8
    • G3V149

    Protein attributes for PPP2R2B Gene

    Size:
    443 amino acids
    Molecular mass:
    51710 Da
    Quaternary structure:
    • PP2A consists of a common heterodimeric core enzyme, composed of a 36 kDa catalytic subunit (subunit C) and a 65 kDa constant regulatory subunit (PR65 or subunit A), that associates with a variety of regulatory subunits. Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B/PR72/PR130/PR59 and R5/B/B56 families), the 48 kDa variable regulatory subunit, viral proteins, and cell signaling molecules.
    SequenceCaution:
    • Sequence=AAH31790.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG51642.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG51642.1; Type=Erroneous termination; Positions=116; Note=Translated as Lys.; Evidence={ECO:0000305};

    Alternative splice isoforms for PPP2R2B Gene

neXtProt entry for PPP2R2B Gene

Proteomics data for PPP2R2B Gene at MOPED

Post-translational modifications for PPP2R2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for PPP2R2B Gene

Domains & Families for PPP2R2B Gene

Suggested Antigen Peptide Sequences for PPP2R2B Gene

Graphical View of Domain Structure for InterPro Entry

Q00005

UniProtKB/Swiss-Prot:

2ABB_HUMAN :
  • The N-terminal 26 residues of isoform 2 constitute a cryptic mitochondrial matrix import signal with critical basic and hydrophobic residues, that is necessary and sufficient for targeting the PP2A holoenzyme to the outer mitochondrial membrane (OMM) and does not affect holoenzyme formation or catalytic activity.
  • Belongs to the phosphatase 2A regulatory subunit B family.
  • Contains 7 WD repeats.
Domain:
  • The N-terminal 26 residues of isoform 2 constitute a cryptic mitochondrial matrix import signal with critical basic and hydrophobic residues, that is necessary and sufficient for targeting the PP2A holoenzyme to the outer mitochondrial membrane (OMM) and does not affect holoenzyme formation or catalytic activity.
  • The last WD repeat of isoform 2 constitutes a mitochondrial stop-transfer domain that confers resistance to the unfolding step process required for import and therefore prevents PPP2R2B matrix translocation and signal sequence cleavage.
Family:
  • Belongs to the phosphatase 2A regulatory subunit B family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with PPP2R2B: view

Function for PPP2R2B Gene

Molecular function for PPP2R2B Gene

GENATLAS Biochemistry:
protein phosphatase 2A,regulating subunit 3,beta isoform specifically expressed in brain (PR53) with a polymorphic CAG repeat in the 5utr promoter region
UniProtKB/Swiss-Prot Function:
The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. Within the PP2A holoenzyme complex, isoform 2 is required to promote proapoptotic activity (By similarity). Isoform 2 regulates neuronal survival through the mitochondrial fission and fusion balance (By similarity).
genes like me logo Genes that share phenotypes with PPP2R2B: view

Human Phenotype Ontology for PPP2R2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for PPP2R2B Gene

Localization for PPP2R2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP2R2B Gene

Isoform 1: Cytoplasm. Cytoplasm, cytoskeleton. Membrane.
Isoform 2: Cytoplasm. Mitochondrion. Mitochondrion outer membrane. Note=Under basal conditions, localizes to both cytosolic and mitochondrial compartments. Relocalizes from the cytosolic to the mitochondrial compartment during apoptosis. Its targeting to the outer mitochondrial membrane (OMM) involves an association with import receptors of the TOM complex and is required to promote proapoptotic activity (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PPP2R2B Gene COMPARTMENTS Subcellular localization image for PPP2R2B gene
Compartment Confidence
mitochondrion 5
cytoskeleton 3
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for PPP2R2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with PPP2R2B: view

Pathways & Interactions for PPP2R2B Gene

genes like me logo Genes that share pathways with PPP2R2B: view

Gene Ontology (GO) - Biological Process for PPP2R2B Gene

None

No data available for SIGNOR curated interactions for PPP2R2B Gene

Drugs & Compounds for PPP2R2B Gene

(3) Drugs for PPP2R2B Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calyculin A Experimental Pharma Protein phosphatase 1 and 2A inhibitor 0
Okadaic acid Experimental Pharma Protein phosphatase 1 and 2A inhibitor 0
Cyclosporin A Pharma Antagonist Immunosuppressive agent, Calcineurin inhibitor 0

(2) Additional Compounds for PPP2R2B Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ceramide
3102-57-6
DL-AP3
20263-06-3

(5) Tocris Compounds for PPP2R2B Gene

Compound Action Cas Number
Calyculin A Protein phosphatase 1 and 2A inhibitor 101932-71-2
Ceramide Ser/Thr protein phosphatase activator 3102-57-6
Cyclosporin A Calcineurin inhibitor 59865-13-3
DL-AP3 Group I mGlu antagonist 20263-06-3
Okadaic acid Protein phosphatase 1 and 2A inhibitor 78111-17-8
genes like me logo Genes that share compounds with PPP2R2B: view

Transcripts for PPP2R2B Gene

Unigene Clusters for PPP2R2B Gene

Protein phosphatase 2, regulatory subunit B, beta:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PPP2R2B Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - -
SP2: -
SP3: - - - -
SP4:
SP5: - - - - -

Relevant External Links for PPP2R2B Gene

GeneLoc Exon Structure for
PPP2R2B
ECgene alternative splicing isoforms for
PPP2R2B

Expression for PPP2R2B Gene

mRNA expression in normal human tissues for PPP2R2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPP2R2B Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x5.1), Brain - Nucleus accumbens (basal ganglia) (x5.1), Brain - Caudate (basal ganglia) (x4.8), Brain - Frontal Cortex (BA9) (x4.5), Brain - Anterior cingulate cortex (BA24) (x4.4), Brain - Cortex (x4.4), and Brain - Amygdala (x4.3).

Protein differential expression in normal tissues from HIPED for PPP2R2B Gene

This gene is overexpressed in Saliva (38.9), Urine (12.1), and Heart (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PPP2R2B Gene



SOURCE GeneReport for Unigene cluster for PPP2R2B Gene Hs.655213

mRNA Expression by UniProt/SwissProt for PPP2R2B Gene

Q00005-2ABB_HUMAN
Tissue specificity: Brain.
genes like me logo Genes that share expression patterns with PPP2R2B: view

Protein tissue co-expression partners for PPP2R2B Gene

Primer Products

Orthologs for PPP2R2B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PPP2R2B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PPP2R2B 35
  • 95.62 (n)
  • 98.89 (a)
PPP2R2B 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPP2R2B 35
  • 95.77 (n)
  • 99.11 (a)
PPP2R2B 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ppp2r2b 35
  • 94.15 (n)
  • 100 (a)
Ppp2r2b 16
Ppp2r2b 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PPP2R2B 35
  • 99.7 (n)
  • 100 (a)
PPP2R2B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppp2r2b 35
  • 94.47 (n)
  • 99.53 (a)
oppossum
(Monodelphis domestica)
Mammalia PPP2R2B 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPP2R2B 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPP2R2B 35
  • 83.59 (n)
  • 96.66 (a)
PPP2R2B 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPP2R2B 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp2r2b 35
  • 83.02 (n)
  • 95.73 (a)
African clawed frog
(Xenopus laevis)
Amphibia ppp2r2b-A-prov 35
zebrafish
(Danio rerio)
Actinopterygii LOC100335012 35
  • 77.15 (n)
  • 89.6 (a)
PPP2R2B (2 of 3) 36
  • 93 (a)
OneToMany
ppp2r2ba 36
  • 87 (a)
OneToMany
ppp2r2bb 36
  • 90 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta tws 37
  • 79 (a)
tws 36
  • 67 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sur-6 36
  • 58 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC55 36
  • 46 (a)
OneToMany
CDC55 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5205 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6047 36
  • 67 (a)
OneToMany
Species with no ortholog for PPP2R2B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPP2R2B Gene

ENSEMBL:
Gene Tree for PPP2R2B (if available)
TreeFam:
Gene Tree for PPP2R2B (if available)

Paralogs for PPP2R2B Gene

Paralogs for PPP2R2B Gene

(3) SIMAP similar genes for PPP2R2B Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with PPP2R2B: view

Variants for PPP2R2B Gene

Sequence variations from dbSNP and Humsavar for PPP2R2B Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs11547494 - 146,701,106(-) CACGG(G/T)AGAAT nc-transcript-variant, reference, missense
rs714251 -- 146,896,948(-) ATCAT(C/T)ACCTT intron-variant
rs720303 -- 147,054,355(+) CCATT(C/T)TTTCA intron-variant
rs720305 -- 147,054,583(+) AGGTA(C/T)GGATA intron-variant
rs750294 -- 146,691,880(-) AATTA(C/T)ACGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PPP2R2B Gene

Variant ID Type Subtype PubMed ID
nsv5052 CNV Insertion 18451855
dgv356n21 CNV Loss 19592680
nsv528827 CNV Loss 19592680
esv269142 CNV Insertion 20981092
nsv519847 CNV Gain+Loss 19592680
esv26695 CNV Loss 19812545
esv2660911 CNV Deletion 23128226
esv2664858 CNV Deletion 23128226
esv2670593 CNV Deletion 23128226
esv270986 CNV Insertion 20981092
esv1159529 CNV Insertion 17803354
esv2730881 CNV Deletion 23290073
esv2053966 CNV Deletion 18987734
nsv328338 CNV Loss 16902084
esv2730882 CNV Deletion 23290073
nsv5053 CNV Loss 18451855
esv2675913 CNV Deletion 23128226
esv2659662 CNV Deletion 23128226
nsv823286 CNV Loss 20364138
esv2730883 CNV Deletion 23290073
nsv499741 CNV Loss 21111241
esv2672689 CNV Deletion 23128226
nsv514327 CNV Loss 21397061
esv2422173 CNV Deletion 20811451
nsv327242 CNV Insertion 16902084
esv988317 CNV Insertion 20482838
dgv1861e1 CNV Complex 17122850

Variation tolerance for PPP2R2B Gene

Residual Variation Intolerance Score: 16.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPP2R2B Gene

Human Gene Mutation Database (HGMD)
PPP2R2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP2R2B Gene

Disorders for PPP2R2B Gene

MalaCards: The human disease database

(11) MalaCards diseases for PPP2R2B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 12
  • spinocerebellar ataxia type 12
spinocerebellar ataxia type12
  • spinocerebellar ataxia 12
autosomal dominant cerebellar ataxia
  • cardiac arrest
dentatorubro-pallidoluysian atrophy
  • dentatorubral-pallidoluysian atrophy
hereditary ataxia
  • cardiac arrest
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

2ABB_HUMAN
  • Spinocerebellar ataxia 12 (SCA12) [MIM:604326]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA12 is an autosomal dominant cerebellar ataxia (ADCA). {ECO:0000269 PubMed:10581021}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PPP2R2B

Genetic Association Database (GAD)
PPP2R2B
Human Genome Epidemiology (HuGE) Navigator
PPP2R2B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPP2R2B
genes like me logo Genes that share disorders with PPP2R2B: view

No data available for Genatlas for PPP2R2B Gene

Publications for PPP2R2B Gene

  1. Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. (PMID: 10581021) Holmes S.E. … Margolis R.L. (Nat. Genet. 1999) 2 3 4 67
  2. PPP2R2B CAG repeat length in the Han Chinese in Taiwan: Association analyses in neurological and psychiatric disorders and potential functional implications. (PMID: 18484086) Chen C.M. … Lee-Chen G.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 23
  3. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PMID: 19235102) Rajkiewicz M. … Zaremba J. (Neurol. Neurochir. Pol. 2008) 3 23
  4. Evidence of a common founder for SCA12 in the Indian population. (PMID: 16138911) Bahl S. … Mukerji M. (Ann. Hum. Genet. 2005) 3 23
  5. Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group. (PMID: 14960773) SuA8ek A. … Zaremba J. (J. Appl. Genet. 2004) 3 23

Products for PPP2R2B Gene

Sources for PPP2R2B Gene

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