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
  • Protein Phosphatase 2 (Formerly 2A), Regulatory Subunit A (PR 65), Alpha Isoform 2 3
  • Protein Phosphatase 2A Structural Subunit A, Alpha Isoform 2 3
  • PP2A Subunit A Isoform PR65-Alpha 3 4
  • PP2A Subunit A Isoform R1-Alpha 3 4
  • Serine/Threonine Protein Phosphatase 2A, 65 KDa Regulatory Subunit A, Alpha Isoform 3
  • Protein Phosphatase 2A, Regulatory 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-Aalpha 3
  • PP2AAALPHA 3
  • MRD36 3
  • PP2AA 3
  • PR65A 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 Pervasive Developmental Disorder. Among its related pathways are Wnt Signaling Pathway and Pluripotency and Activated TLR4 signalling. 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 for PPP2R1A Gene

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 759.1 +0.4 410 4.6 ZNF785 SIN3A ZBTB40 SP1 MLX SMARCE1 POLR2A CEBPZ ATF1 FOS ZNF836 PPP2R1A HSALNG0127299 ZNF766 ZNF578 ZNF160 ZNF528 ZNF175 ENSG00000269102 ZNF611
GH19J052170 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 6.4 -18.6 -18601 3.2 ZNF785 SP1 ZBTB40 ZNF121 NKRF POLR2A ELF1 ZNF687 PRDM1 MCM2 ZNF836 ENSG00000267827 ENSG00000267927 lnc-ZNF836-1 FPR3 PPP2R1A
GH19J052194 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 8.9 +7.8 7753 6.9 ZNF133 PRDM1 ZNF7 FOS NFIC ZFHX2 ADNP ZMYM3 KDM1A ZNF175 ZNF528 ENSG00000260160 ZNF841 ZNF432 ZNF83 ZNF347 ZNF614 ZNF615 ENSG00000268225
GH19J052230 Enhancer 0.7 FANTOM5 Ensembl ENCODE 5.8 +41.3 41266 1.3 NFATC1 ENSG00000268015 LOC105372449 ZNF610 FPR3 PPP2R1A
GH19J052212 Enhancer 0.5 ENCODE 7 +24.4 24416 3.5 PKNOX1 CEBPB ATF7 ATF2 CEBPG PPP2R1A ENSG00000268015 MIR6801 HSALNG0127299
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PPP2R1A Gene
chr19:52,189,802-52,229,518
(GRCh38/hg38)
Size:
39,717 bases
Orientation:
Plus strand
chr19:52,693,055-52,730,687
(GRCh37/hg19)
Size:
37,633 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 StructureGene Density

RefSeq DNA sequence for PPP2R1A Gene

Proteins for PPP2R1A Gene

  • 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:
    • 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). 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. 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 FAM122A (PubMed:27588481). Interacts with ADCY8; antagonizes interaction between ADCY8 and calmodulin (By similarity). Interacts with CRTC3 (when phosphorylated at 'Ser-391') (PubMed:30611118).

    Three dimensional structures from OCA and Proteopedia for PPP2R1A Gene

neXtProt entry for PPP2R1A Gene

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

Antibody Products

  • Abcam antibodies for PPP2R1A
  • Biorbyt 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

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

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 IEA,IBA 21873635
GO:0005515 protein binding IPI,IEA 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 Model Products

CRISPR Products

Clone Products

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 3

Subcellular locations from the

Human Protein Atlas (HPA)

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
2 Activated TLR4 signalling
3 Misspliced GSK3beta mutants stabilize beta-catenin
4 Regulation of PLK1 Activity at G2/M Transition
5 Negative regulation of FGFR1 signaling
genes like me logo Genes that share pathways with PPP2R1A: view

Pathways by source 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

(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 Antagonist, Inhibition, Inhibitor 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

mRNA/cDNA for PPP2R1A Gene

CRISPR Products

Clone Products

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
ECgene alternative splicing isoforms for
PPP2R1A

Expression for PPP2R1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

NURSA nuclear receptor signaling pathways regulating expression of PPP2R1A Gene:

PPP2R1A

SOURCE GeneReport for Unigene cluster for PPP2R1A Gene:

Hs.467192

Evidence on tissue expression from TISSUES for PPP2R1A Gene

  • Nervous system(5)
  • Intestine(4.8)
  • Kidney(4.7)
  • Skin(4.6)
  • Liver(4.4)
  • Lung(4.2)
  • Spleen(3.8)
  • Eye(3.3)
  • Blood(2.9)
  • Heart(2.8)
  • Pancreas(2.8)
  • Stomach(2.5)
  • Muscle(2.4)
  • Adrenal gland(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

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 33
  • 100 (a)
OneToOne
LOC484335 32
  • 92.08 (n)
chimpanzee
(Pan troglodytes)
Mammalia PPP2R1A 33 32
  • 99.83 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPP2R1A 33
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PPP2R1A 33 32
  • 92.76 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppp2r1a 32
  • 90.78 (n)
mouse
(Mus musculus)
Mammalia Ppp2r1a 17 33 32
  • 90.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPP2R1A 33
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPP2R1A 33
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp2r1a 32
  • 80.08 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009105 32
  • 71.18 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pp2A-29B 33 34 32
  • 69.1 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F48E8.5 34
  • 62 (a)
paa-1 33 32
  • 58.88 (n)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR279C 32
  • 51.22 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TPD3 33 32
  • 49.22 (n)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F07689g 32
  • 48.38 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RCN1 32
  • 56.27 (n)
soybean
(Glycine max)
eudicotyledons Gma.6495 32
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6713 32
wheat
(Triticum aestivum)
Liliopsida Ta.1998 32
rice
(Oryza sativa)
Liliopsida Os.1308 32
barley
(Hordeum vulgare)
Liliopsida Hv.1113 32
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8422 33
  • 69 (a)
OneToMany
Cin.1500 32
bread mold
(Neurospora crassa)
Ascomycetes NCU00488 32
  • 59.53 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes paa1 32
  • 52.39 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1500 32
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

Sequence variations from dbSNP and Humsavar for PPP2R1A Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1057519946 likely-pathogenic, Neoplasm of the breast, Adenocarcinoma of prostate, Squamous cell carcinoma of the head and neck, Ovarian Serous Cystadenocarcinoma, Uterine Carcinosarcoma, Malignant neoplasm of body of uterus, Neoplasm of the large intestine, Adenocarcinoma of stomach, Lung adenocarcinoma, Mental retardation, autosomal dominant 36 52,212,729(+) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057519947 likely-pathogenic, Uterine Carcinosarcoma, Neoplasm of the large intestine, Lung adenocarcinoma, Malignant neoplasm of body of uterus, Neoplasm of the breast, Adenocarcinoma of stomach, Adenocarcinoma of prostate, Squamous cell carcinoma of the head and neck, Ovarian Serous Cystadenocarcinoma, not provided 52,212,730(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1555791268 uncertain-significance, Inborn genetic diseases 52,212,959(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs786205227 pathogenic-likely-pathogenic, pathogenic, Mental retardation, autosomal dominant 36, not provided, Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] 52,212,726(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs786205228 likely-pathogenic, pathogenic, Uterine Carcinosarcoma, Malignant neoplasm of body of uterus, Mental retardation, autosomal dominant 36, not provided, Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] 52,212,718(+) C/G/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

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

Disorders for PPP2R1A Gene

MalaCards: The human disease database

(17) MalaCards diseases for PPP2R1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 36
  • mrd36
pervasive developmental disorder
  • pervasive development disorder
uterine carcinosarcoma
  • mixed mullerian sarcoma of uterus
brachydactyly
rare cancer of corpus uteri
  • rare malignant tumor of corpus uteri
- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for PPP2R1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 56
  2. Oncoprotein CIP2A is stabilized via interaction with tumor suppressor PP2A/B56. (PMID: 28174209) Wang J … Westermarck J (EMBO reports 2017) 3 4 56
  3. FAM122A, a new endogenous inhibitor of protein phosphatase 2A. (PMID: 27588481) Fan L … Huang Y (Oncotarget 2016) 3 4 56
  4. Protein phosphatase 2A subunit gene haplotypes and proliferative breast disease modify breast cancer risk. (PMID: 19890961) Dupont WD … Smith JR (Cancer 2010) 3 43 56
  5. A PP2A phosphatase high density interaction network identifies a novel striatin-interacting phosphatase and kinase complex linked to the cerebral cavernous malformation 3 (CCM3) protein. (PMID: 18782753) Goudreault M … Gingras AC (Molecular & cellular proteomics : MCP 2009) 3 4 56

Products for PPP2R1A Gene