Entrez Summary: 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 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
peptidyl-serine dephosphorylation
protein phosphatase type 2A complex
protein phosphatase regulator activity
protein serine/threonine phosphatase activity
regulation of phosphoprotein phosphatase activity
regulation of protein dephosphorylation
mitochondrial outer membrane
regulation of phosphatase activity
regulation of dephosphorylation
protein dephosphorylation
dephosphorylation
cytoskeleton
mitotic cell cycle
apoptotic process
programmed cell death
cell death
mitochondrion
regulation of hydrolase activity
cell cycle
regulation of phosphate metabolic process
regulation of phosphorus metabolic process
regulation of protein modification process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)