FREM2
Chr 13ARFRAS1 related extracellular matrix 2
Also known as: CRYPTOP, FRASRS2
This gene encodes an extracellular matrix protein that maintains skin epithelial integrity, supports epidermal adhesion, and is required for eyelid and anterior eye segment development. Mutations cause Fraser syndrome 2 and isolated cryptophthalmos (absent or malformed eyelids), inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants, indicating its critical developmental role.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FREM2 · 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