AMER2
Chr 13APC membrane recruitment protein 2
Also known as: FAM123A
The protein negatively regulates the canonical Wnt signaling pathway by binding phosphatidylinositol 4,5-bisphosphate and interacting with components of the beta-catenin destruction complex, playing a role in neuroectodermal patterning. Mutations cause autosomal recessive osteopathia striata with cranial sclerosis, a skeletal dysplasia characterized by longitudinal striations in long bones and sclerosis of cranial bones. The gene shows moderate constraint against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AMER2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools