SERP2
Chr 13stress associated endoplasmic reticulum protein family member 2
Also known as: C13orf21, bA269C23.1
SERP2 encodes a protein that protects unfolded proteins from degradation during endoplasmic reticulum stress and facilitates their glycosylation, playing a critical role in the ER unfolded protein response. Mutations cause autosomal recessive progressive encephalopathy with brain atrophy, characterized by early-onset developmental regression, seizures, and neurodegeneration. The gene shows moderate constraint against loss-of-function variants, consistent with its essential cellular function in protein quality control.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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
SERP2 · 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