protein phosphatase 2, regulatory subunit B, beta

Symbol

PPP2R2B (may also be known as: None)

Organism

Human

Description

The product of this gene belongs to the phosphatase 2 regulatory subunit B family. 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 B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 66-78 copies in cases of SCA12. [provided by RefSeq, Jul 2008]

Orthologs

SymbolSpecies
ppp2r2bb Danio rerio
Ppp2r2b Mus musculus
Ppp2r2b Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0006915 apoptotic process biological_process
GO:0007165 signal transduction biological_process
GO:0008219 cell death biological_process
GO:0000159 protein phosphatase type 2A complex cellular_component
GO:0005737 cytoplasm cellular_component
GO:0005739 mitochondrion cellular_component
GO:0005741 mitochondrial outer membrane cellular_component
GO:0005856 cytoskeleton cellular_component
GO:0016020 membrane cellular_component
GO:0005515 protein binding molecular_function
GO:0008601 protein phosphatase type 2A regulator activity molecular_function