C18ORF32
Chr 18ARchromosome 18 open reading frame 32
Also known as: GPIBD25
The protein activates NF-kappaB signaling and is located in the endoplasmic reticulum and lipid droplets. Autosomal recessive mutations cause glycosylphosphatidylinositol biosynthesis defect 25, though the clinical features remain to be fully characterized. The gene shows low constraint to loss-of-function variation in the general population.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
44 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 37 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 6 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 44 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C18ORF32 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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