STRs database » DIP2B locus
Gene DIP2B
Location 5′ UTR in 12q13.1
Reference region chr12:50505003-50505024 (hg38)
chr12:50898786-50898807 (hg19)
chr12:50468097-50468118 (hs1)
Repeat unit CGG
Repeat type Standard
Distribution of repeats in a superpopulation
→ View repeat distributions in gnomAD database
Overview of repeats

CGG repeat expansions in the 5 UTR of DIP2B gene have been associated with FRA12A mental retardation (MRFRA12A). Research by Winnepenninckx et al. (2007) determined the repeat length in the control group to be between 6 and 23 repeats. In the individuals, who cytogenetically express fragile site (FRA12A) were found to have repeat expansions. In unaffected individuals, one allele was found to be 417-617 bp (~139-206 repeats), but in affected ones it was over 817 bp, corresponding to at least ~272 repeats (Winnepenninckx et al., 2007).

→ View STRipy's population-wide repeat data for DIP2B locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Mental retardation, FRA12A type (MRFRA12A) Paediatric Autosomal dominant 6-23 - ≥273