BICD2
Chr 9ADBICD cargo adaptor 2
Also known as: SMALED2, SMALED2A, SMALED2B, bA526D8.1
The protein mediates dynein-mediated transport along microtubules toward the minus end and functions at the Golgi apparatus. Loss-of-function mutations cause autosomal dominant spinal muscular atrophy, lower extremity-predominant types 2A and 2B. The high pLI score (0.98) indicates this gene is highly intolerant to loss-of-function variants, consistent with the dominant inheritance pattern where haploinsufficiency drives pathogenicity.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to loss-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BICD2 · 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