SURF4
Chr 9surfeit 4
Also known as: ERV29
The SURF4 protein functions as an endoplasmic reticulum cargo receptor that mediates the export of lipoproteins and other secreted proteins by recruiting them into COPII vesicles for secretion from the cell. Mutations cause a neurodevelopmental disorder with intellectual disability through a predicted gain-of-function mechanism, though the inheritance pattern has not been definitively established. The pathogenicity likely results from disrupted lipoprotein secretion and altered ER-Golgi trafficking affecting normal cellular homeostasis.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is gain-of-function.
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
SURF4 · 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