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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]
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.
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.
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 |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Activated TLR4 signalling | ||
3 | Misspliced GSK3beta mutants stabilize beta-catenin | ||
4 | Regulation of PLK1 Activity at G2/M Transition |
.49
|
|
5 | Negative regulation of FGFR1 signaling |
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 |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
FK 506 |
|
104987-11-3 |
|
|
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 |
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: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | PPP2R1A 31 |
|
OneToOne | |
LOC484335 30 |
|
||||
Chimpanzee (Pan troglodytes) |
Mammalia | PPP2R1A 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PPP2R1A 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PPP2R1A 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ppp2r1a 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ppp2r1a 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PPP2R1A 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PPP2R1A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ppp2r1a 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009105 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Pp2A-29B 30 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | F48E8.5 32 |
|
|
|
paa-1 30 31 |
|
OneToMany | |||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACR279C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TPD3 30 31 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F07689g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | RCN1 30 |
|
||
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 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU00488 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | paa1 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1500 30 |
|
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation, autosomal dominant 36 |
|
|
brachydactyly |
|
|
autism spectrum disorder |
|
|
microcephaly |
|
|
uterine carcinosarcoma |
|
|