SCG2
Chr 2secretogranin II
Also known as: CHGC, EM66, SN, SgII
Secretogranin II functions in the packaging and sorting of peptide hormones and neuropeptides into secretory vesicles in neuroendocrine cells, and is cleaved to produce the active peptide secretoneurin. Mutations in SCG2 cause autosomal recessive familial tumoral calcinosis, a disorder characterized by abnormal calcium and phosphate metabolism leading to ectopic calcification and tumor-like calcium deposits around joints. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern of associated disease.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
SCG2 · 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