STRs database » PPP2R2B locus
Gene PPP2R2B
Location 5′ UTR in 5q32
Reference region chr5:146878728-146878758 (hg38)
chr5:146258291-146258321 (hg19)
Repeat unit CAG
Repeat type Standard
Distribution of repeats in a superpopulation
Overview of repeats

Pathological CAG repeat expansions in the PPP2R2B gene leads to spinocerebellar ataxia type 12 (SCA12). The range of repeats in healthy individuals ranges from 7-31 and in affected individuals, 51 to 69 repeats (Bahl et al., 2005; Srivastava et al., 2001).

→ View STRipy's population-wide repeat data for PPP2R2B locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Spinocerebellar ataxia 12 (SCA12) Paediatric/Adult Autosomal dominant 7-31 - ≥51