TMEM219
Chr 16transmembrane protein 219
Also known as: IGFBP-3R, IGFBP3R
The protein functions as a cell death receptor that specifically binds IGFBP3 and may mediate caspase-8-dependent apoptosis. This gene is extremely intolerant to loss-of-function variants (pLI = 0.0001), suggesting that mutations would likely cause severe developmental disorders, though specific associated diseases have not yet been established. The inheritance pattern for potential TMEM219-related disorders has not been determined.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TMEM219 · 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