CAND2
Chr 3cullin associated and neddylation dissociated 2 (putative)
Also known as: TIP120B, Tp120b
The protein functions as an assembly factor for SCF E3 ubiquitin ligase complexes, promoting the exchange of substrate-recognition F-box subunits to regulate the cellular repertoire of these protein degradation complexes. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, developmental delay, and seizures. This gene is highly intolerant to loss-of-function mutations in the general population.
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
CAND2 · 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