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Gene information for PPP2R2B (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID5521
Official gene symbolPPP2R2B
Full nameprotein phosphatase 2, regulatory subunit B, beta
Aliases,B55BETA,FLJ95686,MGC24888,PP2AB55BETA,PP2ABBETA,PP2APR55B,PP2APR55BETA,PR2AB55BETA,PR2ABBETA,PR2APR55BETA,PR52B,PR55-BETA,PR55BETA,SCA12,
Gene summaryThe 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]
LocationChromosome: 5   Locus: 5q31-q32
Gene position146461033 - 145969067  Map Viewer
Gene orientationminus
Gene size491967 bp
Gene sequence
OMIM ID604325