SDC2
Chr 8syndecan 2
Also known as: CD362, HSPG, HSPG1, SYND2
The encoded protein is a transmembrane heparan sulfate proteoglycan that functions as a cell surface receptor regulating dendritic arbor morphogenesis, cell proliferation, migration, and cell-matrix interactions. Mutations in SDC2 cause neurodevelopmental disorder with seizures and speech delay, inherited in an autosomal recessive pattern. The gene is moderately constrained against loss-of-function mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
SDC2 · 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
An Exploratory Study on Gene Methylation Detection of Colorectal Cancer
RECRUITINGEpigenetic Factors of Colorectal Adenoma in Korean
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools