LongevityMap Gene

Gene details

HGNC symbol
PPP2R2B 
Aliases
PR52B; SCA12; B55BETA; PR55BETA; PP2ABBETA; PP2APR55B; PR2ABBETA; PR55-BETA; PP2AB55BETA; PR2AB55BETA; PP2APR55BETA; PR2APR55BETA 
Common name
protein phosphatase 2 regulatory subunit Bbeta 
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 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016]
Cytogenetic Location
5q32
UCSC Genome Browser
View 5q32 on the UCSC genome browser
OMIM
604325
Ensembl
ENSG00000156475
UniProt/Swiss-Prot
2ABB_HUMAN
Entrez Gene
5521
UniGene
627618
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
ppp2r2bb
Mus musculus
Ppp2r2b
Rattus norvegicus
Ppp2r2b

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Genome-wide association study in 801 centenarians and 914 healthy controls
Conclusions
281 SNPs were found to discriminate between cases and controls
Indentifier
rs249904
Reference