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Aliases for PPP2R1A Gene

Aliases for PPP2R1A Gene

  • Protein Phosphatase 2 Scaffold Subunit Aalpha 2 3 5
  • 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
  • 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 Ovarian Clear Cell Carcinoma. Among its related pathways are RET signaling and Negative regulation of FGFR3 signaling. 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 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 , fRNAdb sequence ontologies 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
GH19I052188 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 559.2 +0.5 516 4.4 HDGF PKNOX1 SMAD1 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 POLR2B PPP2R1A ZNF766 ZNF175 ENSG00000269483 ZNF614 ZNF415 ZNF528 ZNF578 ENSG00000268225 ZNF160
GH19I052187 Enhancer 0.4 ENCODE dbSUPER 556.6 -1.8 -1799 0.2 PPP2R1A ZNF836
GH19I052170 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 6.4 -18.4 -18350 2.5 HDGF SMAD1 ZSCAN4 ARID4B SIN3A ZNF48 ZBTB40 ZNF335 ZNF121 ZNF366 ZNF836 ENSG00000267827 ENSG00000267927 FPR3 PPP2R1A
GH19I052194 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 8.9 +6.7 6656 4.7 NFIC ADNP ZNF133 ZMYM3 FPR3 PPP2R1A ENSG00000268015 ZNF836 ZNF766 ZNF350 ZNF808 ZNF432 ZNF83 MIR6801
GH19I052199 Enhancer 0.9 Ensembl ENCODE dbSUPER 8.5 +10.5 10452 1.5 ZFHX2 FOS PRDM1 ZNF7 EGR2 FPR3 PPP2R1A MIR6801
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PPP2R1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPP2R1A gene promoter:

Genomic Locations for PPP2R1A Gene

Genomic Locations for PPP2R1A Gene
chr19:52,189,802-52,229,533
(GRCh38/hg38)
Size:
39,732 bases
Orientation:
Plus strand
chr19:52,693,055-52,730,687
(GRCh37/hg19)

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).

    Three dimensional structures from OCA and Proteopedia for PPP2R1A Gene

neXtProt entry for PPP2R1A Gene

Post-translational modifications for PPP2R1A Gene

  • Ubiquitination at isoforms=133, isoforms=163, Lys194, isoforms=266, Lys272, isoforms=280, Lys307, Lys472, Lys475, isoforms=485, Lys519, isoforms=546, and isoforms=561
  • Modification sites at PhosphoSitePlus

Other Protein References for PPP2R1A Gene

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

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 protein serine/threonine phosphatase activity IEA --
GO:0005515 protein binding 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 Model 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. 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
extracellular 5
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 TAS,IEA 11007961
GO:0000775 chromosome, centromeric region IEA,IDA 16580887
GO:0005634 nucleus NAS 11007961
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with PPP2R1A: view

Pathways & Interactions for PPP2R1A Gene

SuperPathways for PPP2R1A Gene

SuperPathway Contained pathways
1 RET signaling
2 Activated TLR4 signalling
3 S33 mutants of beta-catenin arent phosphorylated
4 Regulation of PLK1 Activity at G2/M Transition
5 Negative regulation of FGFR3 signaling
genes like me logo Genes that share pathways with PPP2R1A: view

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

(6) 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 Immunosuppressant drug, 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

(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

Unigene Clusters for PPP2R1A Gene

Protein phosphatase 2, regulatory subunit A, alpha:
Representative Sequences:

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, PaxDb, 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 34
  • 100 (a)
OneToOne
LOC484335 33
  • 92.08 (n)
chimpanzee
(Pan troglodytes)
Mammalia PPP2R1A 33 34
  • 99.83 (n)
oppossum
(Monodelphis domestica)
Mammalia PPP2R1A 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PPP2R1A 33 34
  • 92.76 (n)
rat
(Rattus norvegicus)
Mammalia Ppp2r1a 33
  • 90.78 (n)
mouse
(Mus musculus)
Mammalia Ppp2r1a 33 16 34
  • 90.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPP2R1A 34
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPP2R1A 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp2r1a 33
  • 80.08 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009105 33
  • 71.18 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pp2A-29B 35 33 34
  • 69.1 (n)
worm
(Caenorhabditis elegans)
Secernentea F48E8.5 35
  • 62 (a)
paa-1 33 34
  • 58.88 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR279C 33
  • 51.22 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TPD3 33 34
  • 49.22 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F07689g 33
  • 48.38 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RCN1 33
  • 56.27 (n)
soybean
(Glycine max)
eudicotyledons Gma.6495 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6713 33
barley
(Hordeum vulgare)
Liliopsida Hv.1113 33
rice
(Oryza sativa)
Liliopsida Os.1308 33
wheat
(Triticum aestivum)
Liliopsida Ta.1998 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8422 34
  • 69 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU00488 33
  • 59.53 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes paa1 33
  • 52.39 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1500 33
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)

Paralogs for PPP2R1A Gene

Paralogs for PPP2R1A Gene

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, Colorectal Neoplasms, Adenocarcinoma of stomach, Adenocarcinoma of lung 52,212,729(+) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057519947 likely-pathogenic, Uterine Carcinosarcoma, Colorectal Neoplasms, Adenocarcinoma of lung, 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
rs786205227 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
rs863225094 pathogenic, Mental retardation, autosomal dominant 36, not provided, Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] 52,213,076(+) G/A 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

(8) MalaCards diseases for PPP2R1A Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 36
  • mrd36
ovarian clear cell carcinoma
  • clear-cell ovarian carcinoma
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
  • eec3
endometrioid ovary carcinoma
  • endometrioid carcinoma of ovary
uterine body mixed cancer
  • malignant mixed 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. Protein phosphatase 2A subunit gene haplotypes and proliferative breast disease modify breast cancer risk. (PMID: 19890961) Dupont WD … Smith JR (Cancer 2010) 3 44 58
  2. 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 58
  3. A specific PP2A regulatory subunit, B56gamma, mediates DNA damage-induced dephosphorylation of p53 at Thr55. (PMID: 17245430) Li HH … Liu X (The EMBO journal 2007) 3 4 58
  4. Mechanisms of the HRSL3 tumor suppressor function in ovarian carcinoma cells. (PMID: 17374643) Nazarenko I … Sers C (Journal of cell science 2007) 3 4 58
  5. PP2A is required for centromeric localization of Sgo1 and proper chromosome segregation. (PMID: 16580887) Tang Z … Yu H (Developmental cell 2006) 3 4 58

Products for PPP2R1A Gene

Sources for PPP2R1A Gene