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
- Caenorhabditis elegans
- sur-6
- Danio rerio
- ppp2r2ba
- Danio rerio
- ppp2r2bb
- Drosophila melanogaster
- tws
- Mus musculus
- Ppp2r2b
- Rattus norvegicus
- Ppp2r2b
- Saccharomyces cerevisiae
- CDC55
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