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This gene encodes the phosphatase 2A catalytic subunit. 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. This gene encodes an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008]
PPP2CA (Protein Phosphatase 2 Catalytic Subunit Alpha) is a Protein Coding gene. Diseases associated with PPP2CA include Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities and Alzheimer Disease 15. Among its related pathways are Beta-Adrenergic Signaling and Association Between Physico-Chemical Features and Toxicity Associated Pathways. Gene Ontology (GO) annotations related to this gene include hydrolase activity and protein C-terminus binding. An important paralog of this gene is PPP2CB.
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:0004721 | phosphoprotein phosphatase activity | IEA,TAS | 28386764 |
GO:0004722 | protein serine/threonine phosphatase activity | IEA,TAS | 10640627 |
GO:0005515 | protein binding | IPI | 1328865 |
GO:0008022 | protein C-terminus binding | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000159 | protein phosphatase type 2A complex | IEA,TAS | 11007961 |
GO:0000775 | chromosome, centromeric region | IEA | -- |
GO:0000922 | spindle pole | IEA | -- |
GO:0005634 | nucleus | NAS | 11007961 |
GO:0005694 | chromosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Activated TLR4 signalling | ||
3 | Misspliced GSK3beta mutants stabilize beta-catenin | ||
4 | Negative regulation of FGFR1 signaling | ||
5 | GAB1 signalosome |
.89
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000184 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | TAS | -- |
GO:0000188 | inactivation of MAPK activity | NAS | 11007961 |
GO:0001932 | regulation of protein phosphorylation | NAS | 28386764 |
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 |
---|---|---|---|---|---|---|
Vitamin E | Approved, Vet_approved | Nutra | Target | 549,557 | ||
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Water | Approved | Pharma | 0 | |||
Manganese | Approved | Nutra | 64 | |||
Cyclosporin A | Approved, Investigational, Vet_approved | Pharma | Immunosuppressive agent, Calcineurin inhibitor | 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 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||||
SP8: | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Oppossum (Monodelphis domestica) |
Mammalia | PPP2CA 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | PPP2CA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PPP2CA 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PPP2CA 30 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Ppp2ca 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ppp2ca 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PPP2CA 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PPP2CA 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PPP2CA 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ppp2ca 30 |
|
||
MGC75638 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | ppp2ca-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ppp2ca 31 |
|
OneToOne | |
zgc:56064 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10181 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | mts 30 31 32 |
|
OneToMany | |
CG11597 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010172 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | F38H4.9 32 |
|
|
|
let-92 30 31 |
|
OneToMany | |||
pph-4.1 32 |
|
|
|||
pph-4.2 32 |
|
|
|||
C34C12.3 32 |
|
|
|||
C25A6.1 32 |
|
|
|||
C06A1.3 32 |
|
|
|||
W03D8.2 32 |
|
|
|||
C24H11.1 32 |
|
|
|||
C24H11.2 32 |
|
|
|||
Y40H4A.2 32 |
|
|
|||
F58G1.3 32 |
|
|
|||
R13A5.11 32 |
|
|
|||
F42G8.8 32 |
|
|
|||
C27B7.6 32 |
|
|
|||
F49E11.7 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PPH21 31 |
|
ManyToMany | |
PPH22 31 |
|
ManyToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | PP2A-1 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.10697 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os06g0574500 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.9014 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11024 31 |
|
OneToMany | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ppa1 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.5327 30 |
|
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs148071386 | Conflicting Interpretations: Neurodevelopmental disorder and language delay with or without structural brain abnormalities; not specified | 134,200,433(-) |
G/A NM_002715.4(PPP2CA):c.640C>T (p.Arg214Ter) |
NONSENSE,NON_CODING_TRANSCRIPT | |
rs1561733474 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities (NEDLBA) [MIM:618354]. Likely Pathogenic: Neurodevelopmental disorder and language delay with or without structural brain abnormalities | 134,199,149(-) |
p.Tyr265CysT/C |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs1561734750 | Pathogenic: Neurodevelopmental disorder and language delay with or without structural brain abnormalities | 134,201,895(-) |
TA/T NM_002715.4(PPP2CA):c.438del (p.Phe146fs) |
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT | |
rs1561734790 | Pathogenic: Neurodevelopmental disorder and language delay with or without structural brain abnormalities | 134,201,961(-) |
G/A NM_002715.4(PPP2CA):c.373C>T (p.Gln125Ter) |
NONSENSE,NON_CODING_TRANSCRIPT | |
rs1561737008 | Pathogenic/Likely Pathogenic: Neurodevelopmental disorder and language delay with or without structural brain abnormalities. Neurodevelopmental disorder and language delay with or without structural brain abnormalities (NEDLBA) [MIM:618354] | 134,205,971(-) |
T/Cp.Asp88Gly NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
Disorder | Aliases | PubMed IDs |
---|---|---|
neurodevelopmental disorder and language delay with or without structural brain abnormalities |
|
|
alzheimer disease 15 |
|
|
syndromic intellectual disability |
|
|
neuronal ceroid lipofuscinosis |
|
|
opitz-gbbb syndrome |
|
|