KDELR3
Chr 22KDEL endoplasmic reticulum protein retention receptor 3
Also known as: ERD23, ERD2L3
The protein functions as a receptor that recognizes the KDEL sequence motif on endoplasmic reticulum resident proteins and mediates their retrieval from the Golgi apparatus back to the endoplasmic reticulum. Mutations in KDELR3 cause neurodevelopmental disorders with intellectual disability, seizures, and distinctive facial features, following an autosomal recessive inheritance pattern. The gene shows extremely low constraint against loss-of-function variants, suggesting tolerance to protein disruption in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
KDELR3 · 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