OLFM4
Chr 13olfactomedin 4
Also known as: GC1, GW112, OLM4, OlfD, UNQ362, bA209J19.1, hGC-1, hOLfD
The protein is an extracellular matrix glycoprotein that facilitates cell adhesion and regulates cell proliferation and apoptosis. Mutations in this gene have been associated with neurodevelopmental disorders, though the specific phenotypic spectrum is still being characterized. The gene shows low constraint against loss-of-function variants (pLI near 0, LOEUF >1), suggesting tolerance to protein-truncating mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
OLFM4 · 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
Study of Tissue Repair in Inflammatory Bowel Disease Exploiting Organoid Technology
RECRUITINGWomen at Risk of Breast Cancer and OLFM4
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools