CLIP2
Chr 7CAP-Gly domain containing linker protein 2
Also known as: CLIP, CLIP-115, CYLN2, WBSCR3, WBSCR4, WSCR3, WSCR4
The protein links microtubules to dendritic lamellar bodies, specialized membranous organelles in neurons that are involved in brain-specific organelle transport. CLIP2 is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by contiguous gene deletions at 7q11.23. This gene is extremely intolerant to loss-of-function variants (pLI ~1.0), suggesting that haploinsufficiency may contribute to the neurodevelopmental features observed in Williams syndrome.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
CLIP2 · 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