ERLIN2
Chr 8ADARER lipid raft associated 2
Also known as: C8orf2, Erlin-2, NET32, SPFH2, SPG18, SPG18A, SPG18B
This protein localizes to endoplasmic reticulum lipid rafts and mediates ER-associated degradation of inositol 1,4,5-trisphosphate receptors, playing a critical role in IP3 signaling and cellular cholesterol homeostasis. Mutations cause spastic paraplegia type 18, which can be inherited in either autosomal dominant (SPG18A) or autosomal recessive (SPG18B) patterns. The gene is not highly constrained against loss-of-function variants, suggesting that different types of mutations may underlie the distinct inheritance patterns.
Limited evidence — not for standalone diagnostic reporting
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ERLIN2 · 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