COPB2
Chr 3ARADcoat protein complex I subunit beta 2
Also known as: MCPH19, OPDD, beta'-COP
COPB2 encodes a subunit of the coatomer complex that mediates vesicular trafficking between the endoplasmic reticulum and Golgi apparatus and is essential for retrograde transport of proteins back to the ER. Mutations cause autosomal recessive primary microcephaly and childhood-onset osteoporosis with developmental delay, indicating critical roles in brain development and bone metabolism. The gene is highly constrained against loss-of-function variation (pLI 1.0, LOEUF 0.089), reflecting its essential cellular function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
COPB2 · 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