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 lead 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)). Srivastava et al. (2017) subsequently described 18 patients with 43-50 CAG repeats and clinical features similar to typical SCA12. In a cohort of 49 patients, Ganaraja et al. (2022) reported expanded alleles of 40-72 repeats, including two clinically consistent patients with 40 and 42 repeats. Thus, 51 repeats is a conventional threshold rather than the lowest size reported in affected individuals.

→ 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	6-32	33-50	≥51