STRs database » MIR7-2 locus

Gene MIR7-2
Location Intergenic in 15q26.1
Reference region chr15:88569436-88569452 (hg38)
chr15:89112667-89112683 (hg19)
chr15:86324041-86324057 (hs1)
Repeat unit TTTG
Repeat type Standard
Distribution of repeats in a superpopulation
Population data for this locus is not available yet.
Overview of repeats

Grasberger et al. (2024) identified mutations in an intergenic (TTTG)4 repeat in 82 affected individuals from 12 families with dominantly inherited thyrotropin resistance. The variants included a one-unit contraction or a sequence change and activated a thyroid-specific enhancer associated with increased MIR7-2/MIR1179 expression. Narumi et al. (2024) independently identified disease-associated variation at the same microsatellite in families with nonautoimmune thyroid abnormalities.

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Congenital hypothyroidism, nongoitrous, 3 (CHNG3) Congenital / variable Autosomal dominant 4 - = 3