Human Gene PPP2R5E (uc001xgd.1)
  Description: Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.
RefSeq Summary (NM_006246): The protein encoded by this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A 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 an epsilon isoform of the regulatory subunit B56 subfamily. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2013].
Transcript (Including UTRs)
   Position: hg19 chr14:63,841,355-64,010,079 Size: 168,725 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr14:63,842,727-64,006,403 Size: 163,677 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:63,841,355-64,010,079)mRNA (may differ from genome)Protein (467 aa)
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OMIMPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: 2A5E_HUMAN
DESCRIPTION: RecName: Full=Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform; AltName: Full=PP2A B subunit isoform B'-epsilon; AltName: Full=PP2A B subunit isoform B56-epsilon; AltName: Full=PP2A B subunit isoform PR61-epsilon; AltName: Full=PP2A B subunit isoform R5-epsilon;
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.
SUBUNIT: Found in a complex with at least ARL2, PPP2CB; PPP2R1A, PPP2R2A, PPP2R5E and TBCD (By similarity). 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. Interacts with SGOL1.
INTERACTION: O96017:CHEK2; NbExp=3; IntAct=EBI-968374, EBI-1180783; P30154:PPP2R1B; NbExp=2; IntAct=EBI-968374, EBI-357094;
SUBCELLULAR LOCATION: Cytoplasm.
PTM: Phosphorylated on serine residues.
SIMILARITY: Belongs to the phosphatase 2A regulatory subunit B56 family.

-  Primer design for this transcript
 

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-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PPP2R5E
CDC HuGE Published Literature: PPP2R5E
Positive Disease Associations: Blood Pressure , Electrocardiography , Leukemia, Lymphocytic, Chronic, B-Cell
Related Studies:
  1. Blood Pressure
    , , . [PubMed 0]
  2. Blood Pressure
    , , . [PubMed 0]
  3. Electrocardiography
    Christopher Newton-Cheh et al. BMC medical genetics 2007, Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study., BMC medical genetics. [PubMed 17903306]
    In the community-based Framingham Heart Study none of the ECG and HRV results individually attained genomewide significance. However, the presence of bona fide QT-associated SNPs among the top 117 results for QT duration supports the importance of efforts to validate top results from the reported scans. Finding genetic variants associated with ECG and HRV quantitative traits may identify novel genes and pathways implicated in arrhythmogenesis and allow for improved recognition of individuals at high risk for arrhythmias in the general population.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.90 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 296.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -261.39590-0.443 Picture PostScript Text
3' UTR -328.071372-0.239 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR002554 - PP2A_B56

Pfam Domains:
PF01603 - Protein phosphatase 2A regulatory B subunit (B56 family)

SCOP Domains:
48371 - ARM repeat

ModBase Predicted Comparative 3D Structure on Q16537
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019888 protein phosphatase regulator activity

Biological Process:
GO:0007165 signal transduction
GO:0043666 regulation of phosphoprotein phosphatase activity

Cellular Component:
GO:0000159 protein phosphatase type 2A complex
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  LF209565 - JP 2014500723-A/17068: Polycomb-Associated Non-Coding RNAs.
Z69029 - H.sapiens mRNA for epsilon isoform of 61kDa regulatory subunit of PP2A.
L76703 - Homo sapiens protein phosphatase 2A B56-epsilon (PP2A) mRNA, complete cds.
BC034994 - Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform, mRNA (cDNA clone IMAGE:4797798).
BC092477 - Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform, mRNA (cDNA clone MGC:104630 IMAGE:5267163), complete cds.
AK299520 - Homo sapiens cDNA FLJ60843 complete cds, highly similar to Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform.
AK316430 - Homo sapiens cDNA, FLJ79329 complete cds, highly similar to Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform.
AK301796 - Homo sapiens cDNA FLJ53109 complete cds, highly similar to Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform.
BC093766 - Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform, mRNA (cDNA clone MGC:120801 IMAGE:7939611), complete cds.
BC143231 - Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform, mRNA (cDNA clone MGC:176749 IMAGE:9051732), complete cds.
BC101479 - Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform, mRNA (cDNA clone MGC:126528 IMAGE:8068985), complete cds.
BC143234 - Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform, mRNA (cDNA clone MGC:176752 IMAGE:9051735), complete cds.
AB451233 - Homo sapiens PPP2R5E mRNA for serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform, complete cds, clone: FLJ08030AAAN.
AK313500 - Homo sapiens cDNA, FLJ94055.
EU447000 - Synthetic construct Homo sapiens clone IMAGE:100069944; IMAGE:100012209; FLH257124.01L protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E) gene, encodes complete protein.
AB451358 - Homo sapiens PPP2R5E mRNA for serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform, partial cds, clone: FLJ08030AAAF.
BC073873 - Homo sapiens protein phosphatase 2, regulatory subunit B (B56), epsilon isoform, mRNA (cDNA clone IMAGE:4536600).
AB209811 - Homo sapiens mRNA for epsilon isoform of regulatory subunit B56, protein phosphatase 2A variant protein.
BC064358 - Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform, mRNA (cDNA clone IMAGE:4999415), partial cds.
BC013154 - Homo sapiens, clone IMAGE:3917694, mRNA.
BC048305 - Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform, mRNA (cDNA clone IMAGE:5555936), partial cds.
BC056156 - Homo sapiens cDNA clone IMAGE:5583284, partial cds.
MA445142 - JP 2018138019-A/17068: Polycomb-Associated Non-Coding RNAs.
JD520911 - Sequence 501935 from Patent EP1572962.
LF329611 - JP 2014500723-A/137114: Polycomb-Associated Non-Coding RNAs.
JD268861 - Sequence 249885 from Patent EP1572962.
JD160122 - Sequence 141146 from Patent EP1572962.
JD303555 - Sequence 284579 from Patent EP1572962.
JD085367 - Sequence 66391 from Patent EP1572962.
JD082012 - Sequence 63036 from Patent EP1572962.
JD219870 - Sequence 200894 from Patent EP1572962.
JD507862 - Sequence 488886 from Patent EP1572962.
LF329612 - JP 2014500723-A/137115: Polycomb-Associated Non-Coding RNAs.
JD363284 - Sequence 344308 from Patent EP1572962.
JD039459 - Sequence 20483 from Patent EP1572962.
LF329613 - JP 2014500723-A/137116: Polycomb-Associated Non-Coding RNAs.
LF329617 - JP 2014500723-A/137120: Polycomb-Associated Non-Coding RNAs.
LF329621 - JP 2014500723-A/137124: Polycomb-Associated Non-Coding RNAs.
LF329639 - JP 2014500723-A/137142: Polycomb-Associated Non-Coding RNAs.
MA565188 - JP 2018138019-A/137114: Polycomb-Associated Non-Coding RNAs.
MA565189 - JP 2018138019-A/137115: Polycomb-Associated Non-Coding RNAs.
MA565190 - JP 2018138019-A/137116: Polycomb-Associated Non-Coding RNAs.
MA565194 - JP 2018138019-A/137120: Polycomb-Associated Non-Coding RNAs.
MA565198 - JP 2018138019-A/137124: Polycomb-Associated Non-Coding RNAs.
MA565216 - JP 2018138019-A/137142: Polycomb-Associated Non-Coding RNAs.
LF329660 - JP 2014500723-A/137163: Polycomb-Associated Non-Coding RNAs.
JD338009 - Sequence 319033 from Patent EP1572962.
JD204904 - Sequence 185928 from Patent EP1572962.
JD531215 - Sequence 512239 from Patent EP1572962.
JD232997 - Sequence 214021 from Patent EP1572962.
MA565237 - JP 2018138019-A/137163: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04114 - Oocyte meiosis
hsa04310 - Wnt signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q16537 (Reactome details) participates in the following event(s):

R-HSA-195251 Assembly of the destruction complex
R-HSA-389532 PP2A binds CTLA4 homodimer
R-HSA-432143 PECAM-1 binds PP2A
R-HSA-8857925 Inhibition of PP2A activity by phosphorylation of the catalytic subunit at tyrosine Y307
R-HSA-201685 Beta-catenin is released from the destruction complex
R-HSA-388833 Phosphorylation of CTLA-4
R-HSA-5229343 AXIN is phosphorylated in the destruction complex
R-HSA-195280 Dissociation of beta-catenin from Axin and association of beta catenin with phospho-(20 aa) APC in the detruction complex
R-HSA-195275 Phosphorylation of APC component of the destruction complex
R-HSA-2130279 Association of beta-catenin with the RBX1:SCF(beta-TrCP1) ubiquitin ligase complex
R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-388809 CTLA-4 binds B7-1/B7-2
R-HSA-195304 Association of beta-catenin with the destruction complex
R-HSA-390329 Dephosphorylation of AKT by PP2A
R-HSA-5672957 PP2A dephosphorylates KSR1
R-HSA-5672961 PP2A dephosphorylates inactive RAFs
R-HSA-5675431 PP2A dephosphorylates RAF1
R-HSA-2130286 Multi-ubiquitination of phospho-beta-catenin by RBX1:SCF(beta-TrCP1)
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-195287 Phosphorylation of phospho-(Ser45 ) at Thr 41 by GSK-3
R-HSA-195318 Phosphorylation of beta-catenin at Ser45 by CK1 alpha
R-HSA-195300 Phosphorylation of phospho-(Ser45,Thr41,Ser37) at Ser33 by GSK-3
R-HSA-195283 Phosphorylation of phospho- (Ser45, Thr41) beta-catenin at Ser37 by GSK-3
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-195253 Degradation of beta-catenin by the destruction complex
R-HSA-389513 CTLA4 inhibitory signaling
R-HSA-432142 Platelet sensitization by LDL
R-HSA-5467337 APC truncation mutants have impaired AXIN binding
R-HSA-5467340 AXIN missense mutants destabilize the destruction complex
R-HSA-5467348 Truncations of AMER1 destabilize the destruction complex
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membrane
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-195721 Signaling by WNT
R-HSA-388841 Costimulation by the CD28 family
R-HSA-418346 Platelet homeostasis
R-HSA-4839744 truncated APC mutants destabilize the destruction complex
R-HSA-4839735 AXIN mutants destabilize the destruction complex, activating WNT signaling
R-HSA-4839748 AMER1 mutants destabilize the destruction complex
R-HSA-199418 Negative regulation of the PI3K/AKT network
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-5673000 RAF activation
R-HSA-5675221 Negative regulation of MAPK pathway
R-HSA-5358751 S45 mutants of beta-catenin aren't phosphorylated
R-HSA-5358752 T41 mutants of beta-catenin aren't phosphorylated
R-HSA-5358749 S37 mutants of beta-catenin aren't phosphorylated
R-HSA-5358747 S33 mutants of beta-catenin aren't phosphorylated
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-196299 Beta-catenin phosphorylation cascade
R-HSA-5339716 Misspliced GSK3beta mutants stabilize beta-catenin
R-HSA-162582 Signal Transduction
R-HSA-1280218 Adaptive Immune System
R-HSA-109582 Hemostasis
R-HSA-4791275 Signaling by WNT in cancer
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-4839743 phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
R-HSA-168256 Immune System
R-HSA-5663202 Diseases of signal transduction
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-1640170 Cell Cycle
R-HSA-1643685 Disease
R-HSA-5683057 MAPK family signaling cascades

-  Other Names for This Gene
  Alternate Gene Symbols: 2A5E_HUMAN, A4FU37, B7ZKK8, NM_006246, NP_006237, Q16537, Q52LW4
UCSC ID: uc001xgd.1
RefSeq Accession: NM_006246
Protein: Q16537 (aka 2A5E_HUMAN)
CCDS: CCDS9758.1, CCDS61468.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006246.2
exon count: 14CDS single in 3' UTR: no RNA size: 3366
ORF size: 1404CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2951.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.