PPP2R1A Gene (Protein Coding)

Protein Phosphatase 2 Scaffold Subunit Aalpha

GC19P052189
GIFtS:
48
This gene encodes a constant regulatory subunit of protein phosphatase 2. 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 regu... See more...

Aliases for PPP2R1A Gene

Aliases for PPP2R1A Gene

  • Protein Phosphatase 2 Scaffold Subunit Aalpha 2 3 5
  • Serine/Threonine-Protein Phosphatase 2A 65 KDa Regulatory Subunit A Alpha Isoform 3 4
  • PP2A-Aalpha 2 3
  • PP2AA 2 3
  • PR65A 2 3
  • Protein Phosphatase 2 (Formerly 2A), Regulatory Subunit A (PR 65), Alpha Isoform 2
  • Protein Phosphatase 2A, Regulatory Subunit A, Alpha Isoform 2
  • Protein Phosphatase 2A Structural Subunit A, Alpha Isoform 2
  • Protein Phosphatase 2, Regulatory Subunit A, Alpha 3
  • Protein Phosphatase 2, 65kDa Regulatory Subunit A 2
  • Medium Tumor Antigen-Associated 61 KDA Protein 3
  • Medium Tumor Antigen-Associated 61 KDa Protein 4
  • Testicular Secretory Protein Li 1 3
  • PP2A Subunit A Isoform PR65-Alpha 4
  • PP2A Subunit A Isoform R1-Alpha 4
  • PP2AAALPHA 3
  • PPP2R1A 5
  • MRD36 3

External Ids for PPP2R1A Gene

Previous GeneCards Identifiers for PPP2R1A Gene

  • GC19P053323
  • GC19P053054
  • GC19P057370
  • GC19P057385
  • GC19P052693
  • GC19P049024

Summaries for PPP2R1A Gene

Entrez Gene Summary for PPP2R1A Gene

  • This gene encodes a constant regulatory subunit of protein phosphatase 2. 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 constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

GeneCards Summary for PPP2R1A Gene

PPP2R1A (Protein Phosphatase 2 Scaffold Subunit Aalpha) is a Protein Coding gene. Diseases associated with PPP2R1A include Mental Retardation, Autosomal Dominant 36 and Brachydactyly. Among its related pathways are Beta-Adrenergic Signaling and Downstream signaling events of B Cell Receptor (BCR). Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and antigen binding. An important paralog of this gene is PPP2R1B.

UniProtKB/Swiss-Prot Summary for PPP2R1A Gene

  • The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. Upon interaction with GNA12 promotes dephosphorylation of microtubule associated protein TAU/MAPT (PubMed:15525651). Required for proper chromosome segregation and for centromeric localization of SGO1 in mitosis (PubMed:16580887).

Tocris Summary for PPP2R1A 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 PPP2R1A Gene

Additional gene information for PPP2R1A Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP2R1A Gene

Genomics for PPP2R1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PPP2R1A Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19J052187 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 259.1 +0.2 164 4.6 TBP ZBTB10 SP1 MNT IKZF1 SMAD5 MBD2 ZNF217 POLR2A BHLHE40 ZNF836 PPP2R1A HSALNG0127299 ZNF160 ZNF766 ZNF616 ZNF175 ZNF611 ENSG00000268970 ZNF841
GH19J052170 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 6.4 -18.9 -18885 3.1 SP1 NR2C1 ELF1 THAP11 GABPA VEZF1 SAP130 ZNF341 ZNF148 KMT2B ZNF836 ENSG00000267827 ENSG00000267927 FPR3 PPP2R1A ZNF616
GH19J052194 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 8.9 +8.0 7995 7.9 ADNP ZNF133 ZMYM3 KDM1A POLR2A EGR2 ZNF7 CEBPB FOS ZFHX2 FPR3 PPP2R1A ENSG00000268015 ZNF836 ZNF766 ZNF350 ZNF808 ZNF432 ZNF83 HSALNG0127299
GH19J052230 Enhancer 0.8 FANTOM5 Ensembl ENCODE 5.8 +40.9 40928 1.1 POLR2A RBM22 NFATC1 ENSG00000268015 LOC105372449 ZNF610 FPR3 PPP2R1A ZNF766
GH19J052212 Enhancer 0.5 ENCODE 7 +24.2 24170 3.5 CEBPB CEBPG ATF2 TRIM28 PKNOX1 ATF7 PPP2R1A ENSG00000268015 MIR6801 HSALNG0127299 ZNF766
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPP2R1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP2R1A

Top Transcription factor binding sites by QIAGEN in the PPP2R1A gene promoter:
  • AREB6
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C
  • GATA-1
  • NF-Y
  • NF-YA

Genomic Locations for PPP2R1A Gene

Latest Assembly
chr19:52,190,048-52,229,518
(GRCh38/hg38)
Size:
39,471 bases
Orientation:
Plus strand

Previous Assembly
chr19:52,693,305-52,732,771
(GRCh37/hg19 by Entrez Gene)
Size:
39,467 bases
Orientation:
Plus strand

chr19:52,693,292-52,730,687
(GRCh37/hg19 by Ensembl)
Size:
37,396 bases
Orientation:
Plus strand

Genomic View for PPP2R1A Gene

Genes around PPP2R1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP2R1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP2R1A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PPP2R1A Gene

Proteins for PPP2R1A Gene

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  • Protein details for PPP2R1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30153-2AAA_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform
    Protein Accession:
    P30153
    Secondary Accessions:
    • Q13773
    • Q6ICQ3
    • Q96DH3

    Protein attributes for PPP2R1A Gene

    Size:
    589 amino acids
    Molecular mass:
    65309 Da
    Quaternary structure:
    • PP2A consists of a common heterodimeric core enzyme, composed of PPP2CA a 36 kDa catalytic subunit (subunit C) and PPP2R1A 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. Found in a complex with at least ARL2, PPP2CB, PPP2R1A, PPP2R2A, PPP2R5E and TBCD (By similarity). Interacts with FOXO1; the interaction dephosphorylates FOXO1 on AKT-mediated phosphorylation sites (By similarity). Interacts with IPO9 (PubMed:12670497). Interacts with TP53 and SGO1 (PubMed:17245430, PubMed:16580887). Interacts with PLA2G16; this interaction might decrease PP2A activity (PubMed:17374643). Interacts with CTTNBP2NL (PubMed:18782753). Interacts with GNA12; the interaction promotes protein phosphatase 2A activation causing dephosphorylation of MAPT (PubMed:15525651). Interacts with CIP2A; this interaction stabilizes CIP2A (PubMed:28174209). Interacts with PABIR1/FAM122A (PubMed:27588481). Interacts with ADCY8; antagonizes interaction between ADCY8 and calmodulin (By similarity). Interacts with CRTC3 (when phosphorylated at 'Ser-391') (PubMed:30611118). Interacts with SPRY2 (PubMed:17974561).

    Three dimensional structures from OCA and Proteopedia for PPP2R1A Gene

neXtProt entry for PPP2R1A Gene

Protein Expression for PPP2R1A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PPP2R1A Gene

  • Ubiquitination at Lys133, Lys163, Lys194, Lys266, Lys272, Lys280, Lys307, Lys472, Lys475, Lys485, Lys519, Lys546, and Lys561
  • Modification sites at PhosphoSitePlus

Other Protein References for PPP2R1A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for PPP2R1A
  • Biorbyt antibodies for PPP2R1A
  • Boster Bio Antibodies for PPP2R1A

No data available for DME Specific Peptides for PPP2R1A Gene

Domains & Families for PPP2R1A Gene

Gene Families for PPP2R1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PPP2R1A Gene

InterPro:
Blocks:
  • HEAT repeat
ProtoNet:

Suggested Antigen Peptide Sequences for PPP2R1A Gene

GenScript: Design optimal peptide antigens:
  • PP2A subunit A isoform R1-alpha (2AAA_HUMAN)
  • cDNA, FLJ96799, Homo sapiens protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform (PPP2R1A), mRNA (A8K7B7_HUMAN)
  • cDNA FLJ53296, highly similar to Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform (B4DDF7_HUMAN)
  • cDNA FLJ59603, highly similar to Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform (B4E1Q0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P30153

UniProtKB/Swiss-Prot:

2AAA_HUMAN :
  • Each HEAT repeat appears to consist of two alpha helices joined by a hydrophilic region, the intrarepeat loop. The repeat units may be arranged laterally to form a rod-like structure.
  • Belongs to the phosphatase 2A regulatory subunit A family.
Domain:
  • Each HEAT repeat appears to consist of two alpha helices joined by a hydrophilic region, the intrarepeat loop. The repeat units may be arranged laterally to form a rod-like structure.
Family:
  • Belongs to the phosphatase 2A regulatory subunit A family.
genes like me logo Genes that share domains with PPP2R1A: view

Function for PPP2R1A Gene

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  6. Cell Lines for research

Molecular function for PPP2R1A Gene

UniProtKB/Swiss-Prot Function:
The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. Upon interaction with GNA12 promotes dephosphorylation of microtubule associated protein TAU/MAPT (PubMed:15525651). Required for proper chromosome segregation and for centromeric localization of SGO1 in mitosis (PubMed:16580887).

Gene Ontology (GO) - Molecular Function for PPP2R1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004722 contributes_to protein serine/threonine phosphatase activity IBA 21873635
GO:0005515 protein binding IEA,IPI 8617797
GO:0019888 protein phosphatase regulator activity IEA,TAS 11007961
GO:0046982 protein heterodimerization activity IPI 9847399
GO:1990405 protein antigen binding IPI 9847399
genes like me logo Genes that share ontologies with PPP2R1A: view
genes like me logo Genes that share phenotypes with PPP2R1A: view

Human Phenotype Ontology for PPP2R1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PPP2R1A Gene

MGI Knock Outs for PPP2R1A:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP2R1A

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for PPP2R1A Gene

Localization for PPP2R1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP2R1A Gene

Cytoplasm. Nucleus. Chromosome, centromere. Lateral cell membrane. Cell projection, dendrite. Note=Centromeric localization requires the presence of BUB1. {ECO:0000269 PubMed:16580887}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPP2R1A gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 4
extracellular 4
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPP2R1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000159 protein phosphatase type 2A complex IBA,TAS 11007961
GO:0000775 chromosome, centromeric region IEA,IDA 16580887
GO:0005634 nucleus NAS 11007961
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with PPP2R1A: view

Pathways & Interactions for PPP2R1A Gene

PathCards logo

SuperPathways for PPP2R1A Gene

SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 Activated TLR4 signalling
Toll Like Receptor 9 (TLR9) Cascade
.94
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
.94
Activated TLR4 signalling
.91
Toll Like Receptor 4 (TLR4) Cascade
.91
MyD88 cascade initiated on plasma membrane
.88
Toll Like Receptor 10 (TLR10) Cascade
.88
Toll Like Receptor 5 (TLR5) Cascade
.88
MyD88 dependent cascade initiated on endosome
.86
Toll Like Receptor 7/8 (TLR7/8) Cascade
.86
MyD88-independent TLR3/TLR4 cascade
.86
Toll Like Receptor 3 (TLR3) Cascade
.86
TRIF-mediated TLR3/TLR4 signaling
.86
MyD88-Mal cascade initiated on plasma membrane
.85
Toll Like Receptor 2 (TLR2) Cascade
.85
Toll Like Receptor TLR1-TLR2 Cascade
.85
Toll Like Receptor TLR6-TLR2 Cascade
.85
Toll-Like Receptors Cascades
.82
MAP kinase activation in TLR cascade
.76
3 Misspliced GSK3beta mutants stabilize beta-catenin
Misspliced GSK3beta mutants stabilize beta-catenin
.93
truncated APC mutants destabilize the destruction complex
.93
Disassembly of the destruction complex and recruitment of AXIN to the membrane
.47
Signaling by WNT in cancer
.43
CTLA4 inhibitory signaling
.33
Canonical Wnt signaling pathway
.31
AMER1 mutants destabilize the destruction complex
.01
APC truncation mutants have impaired AXIN binding
.01
AXIN missense mutants destabilize the destruction complex
.01
AXIN mutants destabilize the destruction complex, activating WNT signaling
.01
Beta-catenin phosphorylation cascade
.01
phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex
.01
S33 mutants of beta-catenin arent phosphorylated
.01
S37 mutants of beta-catenin arent phosphorylated
.01
S45 mutants of beta-catenin arent phosphorylated
.01
T41 mutants of beta-catenin arent phosphorylated
.01
Truncations of AMER1 destabilize the destruction complex
.01
4 Regulation of PLK1 Activity at G2/M Transition
Centrosome maturation
.88
Loss of Nlp from mitotic centrosomes
.88
Loss of proteins required for interphase microtubule organization from the centrosome
.88
Recruitment of mitotic centrosome proteins and complexes
.88
AURKA Activation by TPX2
.85
Regulation of PLK1 Activity at G2/M Transition
.80
Anchoring of the basal body to the plasma membrane
.72
G2/M Transition
.49
Mitotic G2-G2/M phases
.49
5 Negative regulation of FGFR1 signaling
Signaling by FGFR3
.84
Signaling by FGFR4
.84
Negative regulation of FGFR3 signaling
.82
Negative regulation of FGFR4 signaling
.82
Negative regulation of FGFR1 signaling
.81
Negative regulation of FGFR2 signaling
.81
Signaling by FGFR1
.70
Spry regulation of FGF signaling
.01
genes like me logo Genes that share pathways with PPP2R1A: view

Pathways by source for PPP2R1A Gene

2 GeneGo (Thomson Reuters) pathways for PPP2R1A Gene
  • Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
  • Regulation of CFTR activity (norm and CF)
25 Qiagen pathways for PPP2R1A Gene
  • Akt Signaling
  • BAD Phosphorylation
  • Beta-Adrenergic Signaling
  • Breast Cancer Regulation by Stathmin1
  • CDK5 Pathway
2 Cell Signaling Technology pathways for PPP2R1A Gene

SIGNOR curated interactions for PPP2R1A Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for PPP2R1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0000188 inactivation of MAPK activity NAS 11007961
GO:0006275 regulation of DNA replication NAS 11007961
GO:0006355 regulation of transcription, DNA-templated NAS 11007961
genes like me logo Genes that share ontologies with PPP2R1A: view

Drugs & Compounds for PPP2R1A Gene

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(5) Drugs for PPP2R1A Gene - From: DrugBank and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclosporin A Approved, Investigational, Vet_approved Pharma Immunosuppressive agent, Calcineurin inhibitor 0
(2S,3S,4E,6E,8S,9S)-3-amino-9-methoxy-2,6,8-trimethyl-10-phenyldeca-4,6-dienoic acid Experimental Pharma Target 0
2,6,8-Trimethyl-3-Amino-9-Benzyl-9-Methoxynonanoic Acid Experimental Pharma Target 0
Calcineurin Autoinhibitory Peptide Pharma CaMKII inhibitor, Selective calcineurin inhibitor 0
INCA-6 Pharma Selective calcineurin-NFAT signaling inhibitor, Inhibitor of calcineurin-substrate association 0

(1) Additional Compounds for PPP2R1A Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
FK 506
104987-11-3

(4) Tocris Compounds for PPP2R1A Gene

Compound Action Cas Number
Calcineurin Autoinhibitory Peptide Selective calcineurin inhibitor 148067-21-4
Cyclosporin A Calcineurin inhibitor 59865-13-3
FK 506 Potent calcineurin inhibitor; immunosuppressant 104987-11-3
INCA-6 Inhibitor of calcineurin-substrate association 3519-82-2
genes like me logo Genes that share compounds with PPP2R1A: view

Transcripts for PPP2R1A Gene

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mRNA/cDNA for PPP2R1A Gene

2 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP2R1A

Alternative Splicing Database (ASD) splice patterns (SP) for PPP2R1A Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12 ^
SP1: - -
SP2: - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - - - - - - - -
SP5:
SP6: - - - - - -
SP7: - - - - - - - - -
SP8: - -
SP9: - - - - - -
SP10: - - - - - - -
SP11:
SP12: -
SP13: -

ExUns: 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for PPP2R1A Gene

GeneLoc Exon Structure for
PPP2R1A

Expression for PPP2R1A Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPP2R1A Gene

mRNA expression in normal human tissues for PPP2R1A Gene
mRNA expression by GTEx for PPP2R1A GenemRNA expression by BioGPS for PPP2R1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPP2R1A Gene

This gene is overexpressed in Bone (20.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPP2R1A Gene



Protein tissue co-expression partners for PPP2R1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP2R1A

SOURCE GeneReport for Unigene cluster for PPP2R1A Gene:

Hs.467192

Evidence on tissue expression from TISSUES for PPP2R1A Gene

  • Nervous system(5)
  • Intestine(4.9)
  • Kidney(4.8)
  • Skin(4.7)
  • Liver(4.6)
  • Lung(4.2)
  • Spleen(4)
  • Eye(3.5)
  • Blood(3.5)
  • Heart(3.4)
  • Pancreas(3.2)
  • Muscle(3.1)
  • Stomach(2.8)
  • Lymph node(2.5)
  • Adrenal gland(2.4)
  • Thyroid gland(2.2)
  • Bone marrow(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP2R1A Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • meninges
  • mouth
  • nose
  • skull
Thorax:
  • chest wall
  • rib
  • rib cage
  • sternum
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with PPP2R1A: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PPP2R1A Gene

Orthologs for PPP2R1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPP2R1A Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
 Mammalia PPP2R1A 31
  • 100 (a)
 OneToOne
LOC484335 30
  • 92.08 (n)
Chimpanzee
(Pan troglodytes)
 Mammalia PPP2R1A 30 31
  • 99.83 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PPP2R1A 31
  • 98 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PPP2R1A 30 31
  • 92.76 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ppp2r1a 30
  • 90.78 (n)
Mouse
(Mus musculus)
 Mammalia Ppp2r1a 30 17 31
  • 90.55 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PPP2R1A 31
  • 58 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PPP2R1A 31
  • 93 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ppp2r1a 30
  • 80.08 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009105 30
  • 71.18 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Pp2A-29B 30 31 32
  • 69.1 (n)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea F48E8.5 32
  • 62 (a)
paa-1 30 31
  • 58.88 (n)
 OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ACR279C 30
  • 51.22 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes TPD3 30 31
  • 49.22 (n)
 OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F07689g 30
  • 48.38 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons RCN1 30
  • 56.27 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.6713 30
Soybean
(Glycine max)
 eudicotyledons Gma.6495 30
Barley
(Hordeum vulgare)
 Liliopsida Hv.1113 30
Rice
(Oryza sativa)
 Liliopsida Os.1308 30
Wheat
(Triticum aestivum)
 Liliopsida Ta.1998 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.8422 31
  • 69 (a)
 OneToMany
Bread mold
(Neurospora crassa)
 Ascomycetes NCU00488 30
  • 59.53 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes paa1 30
  • 52.39 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.1500 30
Species where no ortholog for PPP2R1A was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Zebrafish (Danio rerio)

Evolution for PPP2R1A Gene

ENSEMBL:
Gene Tree for PPP2R1A (if available)
TreeFam:
Gene Tree for PPP2R1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP2R1A: view image

Paralogs for PPP2R1A Gene

Paralogs for PPP2R1A Gene

(16) SIMAP similar genes for PPP2R1A Gene using alignment to 8 proteins:

  • 2AAA_HUMAN
  • A8K7B7_HUMAN
  • B3KQV6_HUMAN
  • C9J9C1_HUMAN
  • E9PH38_HUMAN
  • F5H3X9_HUMAN
  • M0QXG4_HUMAN
  • M0R0K6_HUMAN
genes like me logo Genes that share paralogs with PPP2R1A: view

Variants for PPP2R1A Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP2R1A Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
916077 Conflicting Interpretations: Mental retardation, autosomal dominant 36; not provided 52,212,958(+) T/C
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
916450 Uncertain Significance: not provided 52,215,797(+) C/A
NM_014225.6(PPP2R1A):c.826C>A (p.Pro276Thr) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
957599 Uncertain Significance: not provided 52,211,341(+) G/A
NM_014225.6(PPP2R1A):c.352G>A (p.Glu118Lys) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR
976337 Uncertain Significance: Mental retardation, autosomal dominant 36 52,211,264(+) C/T
NM_014225.6(PPP2R1A):c.275C>T (p.Pro92Leu) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR
985103 Likely Pathogenic: Inborn genetic diseases 52,212,730(+) G/C
NM_014225.6(PPP2R1A):c.548G>C (p.Arg183Pro) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PPP2R1A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PPP2R1A Gene

Variant ID Type Subtype PubMed ID
esv22131 CNV loss 19812545
esv2760529 CNV gain 21179565
esv3583508 CNV loss 25503493
nsv1059417 CNV gain 25217958
nsv1140251 OTHER inversion 24896259
nsv518533 CNV loss 19592680
nsv580007 CNV gain 21841781

Variation tolerance for PPP2R1A Gene

Residual Variation Intolerance Score: 9.39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.51; 11.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP2R1A Gene

Human Gene Mutation Database (HGMD)
PPP2R1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP2R1A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP2R1A Gene

Disorders for PPP2R1A Gene

MalaCards: The human disease database

(26) MalaCards diseases for PPP2R1A Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 36
  • mrd36
brachydactyly
autism spectrum disorder
  • asd
microcephaly
  • microcephalus
uterine carcinosarcoma
  • mixed mullerian sarcoma of uterus
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

2AAA_HUMAN
  • Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:25533962, ECO:0000269 PubMed:26168268}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PPP2R1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PPP2R1A: view

No data available for Genatlas for PPP2R1A Gene

Publications for PPP2R1A Gene

  1. Mitogenic Signals Stimulate the CREB Coactivator CRTC3 through PP2A Recruitment. (PMID: 30611118) Sonntag T … Montminy M (iScience 2019) 3 4
  2. Oncoprotein CIP2A is stabilized via interaction with tumor suppressor PP2A/B56. (PMID: 28174209) Wang J … Westermarck J (EMBO reports 2017) 3 4
  3. FAM122A, a new endogenous inhibitor of protein phosphatase 2A. (PMID: 27588481) Fan L … Huang Y (Oncotarget 2016) 3 4
  4. Large-scale discovery of novel genetic causes of developmental disorders. (PMID: 25533962) Deciphering Developmental Disorders Study (Nature 2015) 4 74
  5. B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. (PMID: 26168268) Houge G … Janssens V (The Journal of clinical investigation 2015) 4 74

ExternalLinks

View latest publications for PPP2R1A gene in Mastermind

Products for PPP2R1A Gene

  • Biorbyt antibodies for PPP2R1A

Sources for PPP2R1A Gene