STRs database » PPP2R2B locus
Gene PPP2R2B
Location 5′ UTR in 5q32
Reference region chr5:146878728-146878758 (hg38)
chr5:146258291-146258321 (hg19)
chr5:147414734-147414779 (hs1)
Repeat unit CAG
Repeat type Standard
Distribution of repeats in a superpopulation
→ View repeat distributions in gnomAD database
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